Skip to main content Accessibility help
×
Hostname: page-component-78c5997874-4rdpn Total loading time: 0 Render date: 2024-11-04T18:19:56.699Z Has data issue: false hasContentIssue false

Chapter 31 - Small round cell tumors

Published online by Cambridge University Press:  19 October 2016

Markku Miettinen
Affiliation:
National Cancer Institute, Maryland
Get access
Type
Chapter
Information
Modern Soft Tissue Pathology
Tumors and Non-Neoplastic Conditions
, pp. 855 - 894
Publisher: Cambridge University Press
Print publication year: 2016

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Triche, TJ, Askin, FB. Neuroblastoma and the differential diagnosis of small-, round-, blue-cell tumors. Hum Pathol 1983;14:569595.Google Scholar
Donaldson, SS. Lessons from our children. Int J Radiat Oncol Biol Phys 1993;26:739749.Google Scholar
Ross, JA, Severson, RK, Pollock, BH, Robison, LL. Childhood cancer in the United States: a geographical analysis of cases from the Pediatric Cooperative Clinical Trials groups. Cancer 1996;77:201207.Google Scholar
Kelleher, FC, Viterbo, A. Histologic and genetic advances in refining the diagnosis of “undifferentiated pleomorphic sarcoma.” Cancers 2013;5:218233.Google Scholar
Koufos, A, Hansen, MF, Copeland, NG, et al. Loss of heterozygosity in three embryonal tumours suggests a common pathogenetic mechanism. Nature 1985;316:330334.Google Scholar
Heyn, R, Haeberlen, V, Newton, WA, et al. Second malignant neoplasms in children treated for rhabdomyosarcoma. Intergroup Rhabdomyosarcoma Study Committee. J Clin Oncol 1993;11:262270.Google Scholar
May, WA, Lessnick, SL, Braun, BS, et al. The Ewing's sarcoma EWS/FLI-1 fusion gene encodes a more potent transcriptional activator and is a more powerful transforming gene than FLI-1. Mol Cell Biol 1993;13:73937398.Google ScholarPubMed
Whang-Peng, J, Triche, TJ, Knutsen, T, et al. Cytogenetic characterization of selected small round cell tumors of childhood. Cancer Genet Cytogenet 1986;21:185208.Google Scholar
Oda, H, Imai, Y, Nakatsuru, Y, Hata, J, Ishikawa, T. Somatic mutations of the APC gene in sporadic hepatoblastomas. Cancer Res 1996;56:33203323.Google Scholar
Raffel, C, Jenkins, RB, Frederick, L, et al. Sporadic medulloblastomas contain PTCH mutations. Cancer Res 1997;57:842845.Google ScholarPubMed
Felix, CA, Kappel, CC, Mitsudomi, T, et al. Frequency and diversity of p53 mutations in childhood rhabdomyosarcoma. Cancer Res 1992;52:22432247.Google Scholar
Jones, PA, Laird, PW. Cancer epigenetics comes of age. Nat Genet 1999;21:163167.Google Scholar
Baylin, SB. Tying it all together: epigenetics, genetics, cell cycle, and cancer. Science 1997;277:19481949.CrossRefGoogle ScholarPubMed
Chen, B, Dias, P, Jenkins, JJ 3rd, Savell, VH, Parham, DM. Methylation alterations of the MyoD1 upstream region are predictive of subclassification of human rhabdomyosarcomas. Am J Pathol 1998;152:10711079.Google Scholar
Eid, JE, Garcia, CB. Reprogramming of mesenchymal stem cells by oncogenes. Semin Cancer Biol 2014;32:1831.Google Scholar
Dehner, LP. Primitive neuroectodermal tumor and Ewing's sarcoma. Am J Surg Pathol 1993;17:113.CrossRefGoogle ScholarPubMed
Yunis, EJ. Ewing's sarcoma and related small round cell neoplasms in children. Am J Surg Pathol 1986;10(Suppl 1):5462.Google Scholar
Angervall, L, Enzinger, FM. Extraskeletal neoplasm resembling Ewing's sarcoma. Cancer 1975;36:240251.Google Scholar
Tefft, M, Vawter, GF, Mitus, A. Paravertebral "round cell" tumors in children. Radiology 1969;92:15011509.Google Scholar
Schmidt, D, Mackay, B, Ayala, AG. Ewing's sarcoma with neuroblastoma-like features. Ultrastruct Pathol 1982;3:143151.Google Scholar
Mierau, GW. Extraskeletal Ewing's sarcoma (peripheral neuroepithelioma). Ultrastruct Pathol 1985;9:9198.CrossRefGoogle ScholarPubMed
Seemayer, TA, Thelmo, WL, Bolande, RP, Wiglesworth, FW. Peripheral neuroectodermal tumors. Perspect Pediatr Pathol 1975;2:151172.Google Scholar
Askin, FB, Rosai, J, Sibley, RK, Dehner, LP, McAlister, WH. Malignant small cell tumor of the thoracopulmonary region in childhood: a distinctive clinicopathologic entity of uncertain histogenesis. Cancer 1979;43:24382451.3.0.CO;2-9>CrossRefGoogle ScholarPubMed
Jaffe, R, Santamaria, M, Yunis, EJ, et al. The neuroectodermal tumor of bone. Am J Surg Pathol 1984;8:885898.CrossRefGoogle ScholarPubMed
Turc-Carel, C, Philip, I, Berger, MP, Philip, T, Lenoir, GM. Chromosome study of Ewing's sarcoma (ES) cell lines: consistency of a reciprocal translocation t(11;22)(q24;q12). Cancer Genet Cytogenet 1984;12:119.Google Scholar
Whang-Peng, J, Triche, TJ, Knutsen, T, et al. Chromosome translocation in peripheral neuroepithelioma. N Engl J Med 1984;311:584585.Google Scholar
Ladanyi, M, Lewis, R, Garin-Chesa, P, et al. EWS rearrangement in Ewing's sarcoma and peripheral neuroectodermal tumor: molecular detection and correlation with cytogenetic analysis and MIC2 expression. Diagn Mol Pathol 1993;2:141146.Google Scholar
Pellin, A, Boix, J, Blesa, JR, et al. EWS/FLI-1 rearrangement in small round cell sarcomas of bone and soft tissue detected by reverse transcriptase polymerase chain reaction amplification. Eur J Cancer 1994;30A:827831.CrossRefGoogle ScholarPubMed
Cavazzana, AO, Miser, JS, Jefferson, J, Triche, TJ. Experimental evidence for a neural origin of Ewing's sarcoma of bone. Am J Pathol 1987;127:507518.Google ScholarPubMed
Stout, AP, Murray, MA. Neuroepithelioma of radial nerve with study of its behavior in vitro. Rev Can Biol 1949;1:651–659.Google Scholar
Delattre, O, Zucman, J, Melot, T, et al. The Ewing family of tumors: a subgroup of small-round-cell tumors defined by specific chimeric transcripts. N Engl J Med 1994;331:294299.Google Scholar
Worch, J, Cyrus, J, Goldsby, R, et al. Racial differences in the incidence of mesenchymal tumors associated with EWSR1 translocation. Cancer Epidemiol Biomarkers Prev 2011;20:449453.Google Scholar
Grier, HE. The Ewing family of tumors: Ewing's sarcoma and primitive neuroectodermal tumors. Pediatr Clin North Am 1997;44:9911004.Google Scholar
Kissane, JM, Askin, FB, Foulkes, M, Stratton, LB, Shirley, SF. Ewing's sarcoma of bone: clinicopathologic aspects of 303 cases from the Intergroup Ewing's Sarcoma Study. Hum Pathol 1983;14:773779.CrossRefGoogle ScholarPubMed
Soule, EH, Newton, W Jr., Moon, TE, Tefft, M. Extraskeletal Ewing's sarcoma: a preliminary review of 26 cases encountered in the Intergroup Rhabdomyosarcoma Study. Cancer 1978;42:259264.Google Scholar
Harms, D. Soft tissue sarcomas in the Kiel Pediatric Tumor Registry. Curr Top Pathol 1995;89:3145.Google Scholar
Holman, CD, Reynolds, PM, Byrne, MJ, Trotter, JM, Armstrong, BK. Possible infectious etiology of six cases of Ewing's sarcoma in Western Australia. Cancer 1983;52:19741976.Google Scholar
Hutter, RV, Francis, KC, Foote, FW Jr. Ewing's sarcoma in siblings: report of the second known occurrence. Am J Surg 1964;107:598603.Google Scholar
Gariepy, G, Drouin, R, Lemieux, N, Richer, CL. Ultrastructural, immunohistochemical, and cytogenetic study of a malignant peripheral neuroectodermal tumor in a patient seropositive for human immunodeficiency virus. Am J Clin Pathol 1990;93:818822.Google Scholar
Ogawa, K. Embryonal neuroepithelial tumors induced by human adenovirus type 12 in rodents. 1. Tumor induction in the peripheral nervous system. Acta Neuropathol 1989;77:244253.Google Scholar
Mirra, J. Bone Tumors: Clinical, Radiologic, and Pathologic Correlations. Philadelphia: Lea & Febiger; 1989.Google Scholar
Marina, NM, Etcubanas, E, Parham, DM, Bowman, LC, Green, A. Peripheral primitive neuroectodermal tumor (peripheral neuroepithelioma) in children: a review of the St. Jude experience and controversies in diagnosis and management. Cancer 1989;64:19521960.Google Scholar
Shimada, H, Newton, WA Jr., Soule, EH, et al. Pathologic features of extraosseous Ewing's sarcoma: a report from the Intergroup Rhabdomyosarcoma Study. Hum Pathol 1988;19:442453.Google Scholar
Rodriguez-Galindo, C, Marina, NM, Fletcher, BD, et al. Is primitive neuroectodermal tumor of the kidney a distinct entity? Cancer 1997;79:22432250.Google Scholar
Sexton, CW, White, WL. Primary cutaneous Ewing's family sarcoma: report of a case with immunostaining for glycoprotein p30/32 mic2. Am J Dermatopathol 1996;18:601605.Google Scholar
Smith, LM, Adams, RH, Brothman, AR, Vanderhooft, SL, Coffin, CM. Peripheral primitive neuroectodermal tumor presenting with diffuse cutaneous involvement and 7;22 translocation. Med Pediatr Oncol 1998;30:357363.Google Scholar
Ehrig, T, Billings, SD, Fanburg-Smith, JC. Superficial primitive neuroectodermal tumor/Ewing sarcoma (PN/ES): same tumor as deep PN/ES or new entity? Ann Diagn Pathol 2007;11:153159.Google Scholar
Kaspers, GJ, Kamphorst, W, van de Graaff, M, van Alphen, HA, Veerman, AJ. Primary spinal epidural extraosseous Ewing's sarcoma. Cancer 1991;68:648654.Google Scholar
Mobley, BC, Roulston, D, Shah, GV, Bijwaard, KE, McKeever, PE. Peripheral primitive neuroectodermal tumor/Ewing's sarcoma of the craniospinal vault: case reports and review. Hum Pathol 2006;37:845853.Google Scholar
Meis, JM, Enzinger, FM, Martz, KL, Neal, JA. Malignant peripheral nerve sheath tumors (malignant schwannomas) in children. Am J Surg Pathol 1992;16:694707.Google Scholar
Hanna, SL, Fletcher, BD, Kaste, SC, Fairclough, DL, Parham, DM. Increased confidence of diagnosis of Ewing sarcoma using T2-weighted MR images. Magn Reson Imaging 1994;12:559568.Google Scholar
Lemmi, MA, Fletcher, BD, Marina, NM, et al. Use of MR imaging to assess results of chemotherapy for Ewing sarcoma. Am J Roentgenol 1990;155:343346.Google Scholar
Tsokos, M. Peripheral primitive neuroectodermal tumors: diagnosis, classification, and prognosis. Perspect Pediatr Pathol 1992;16:2798.Google Scholar
Nascimento, AG, Unii, KK, Pritchard, DJ, Cooper, KL, Dahlin, DC. A clinicopathologic study of 20 cases of large-cell (atypical) Ewing's sarcoma of bone. Am J Surg Pathol 1980;4:2936.Google Scholar
Folpe, AL, Goldblum, JR, Rubin, BP, et al. Morphologic and immunophenotypic diversity in Ewing family tumors: a study of 66 genetically confirmed cases. Am J Surg Pathol 2005;29:10251033.Google Scholar
Pinto, A, Dickman, P, Parham, D. Pathobiologic markers of the Ewing sarcoma family of tumors: state of the art and prediction of behaviour. Sarcoma 2011;2011:856190.Google Scholar
Arnold, MA, Ballester, LY, Pack, SD, et al. Primary subcutaneous spindle cell Ewing sarcoma with strong S100 expression and EWSR1-FLI1 fusion: a case report. Pediatr Dev Pathol 2014;17:302307.Google Scholar
Williams, S, Parham, DM, Jenkins, JJ, 3rd. Peripheral neuroepithelioma with ganglion cells: report of two cases and review of the literature. Pediatr Dev Pathol 1999;2:4249.Google Scholar
Llombart-Bosch, A, Peydro-Olaya, A. Scanning and transmission electron microscopy of Ewing's sarcoma of bone (typical and atypical variants): an analysis of nine cases. Virchows Arch A Pathol Anat Histopathol 1983;398:329346.CrossRefGoogle ScholarPubMed
Triche, TJ, Ross, WE. Glycogen-containing neuroblastoma with clinical and histopathologic features of Ewing's sarcoma. Cancer 1978;41:14251432.3.0.CO;2-9>CrossRefGoogle ScholarPubMed
Llombart-Bosch, A, Lacombe, MJ, Peydro-Olaya, A, Perez-Bacete, M, Contesso, G. Malignant peripheral neuroectodermal tumours of bone other than Askin's neoplasm: characterization of 14 new cases with immunohistochemistry and electron microscopy. Virchows Arch A Pathol Anat Histopathol 1988;412:421430.Google Scholar
Bridge, JA, Fidler, ME, Neff, JR, et al. Adamantinoma-like Ewing's sarcoma: genomic confirmation, phenotypic drift. Am J Surg Pathol 1999;23:159165.CrossRefGoogle ScholarPubMed
Ambros, IM, Ambros, PF, Strehl, S, et al. MIC2 is a specific marker for Ewing's sarcoma and peripheral primitive neuroectodermal tumors: evidence for a common histogenesis of Ewing's sarcoma and peripheral primitive neuroectodermal tumors from MIC2 expression and specific chromosome aberration. Cancer 1991;67:18861893.Google Scholar
Ramani, P, Rampling, D, Link, M. Immunocytochemical study of 12E7 in small round-cell tumours of childhood: an assessment of its sensitivity and specificity. Histopathology 1993;23:557561.Google Scholar
Stevenson, AJ Chatten, J, Bertoni, F, et al. CD99 (p30/32MIC2) neuroectodermal/Ewing's sarcoma antigen as an immunohistochemical marker: review of more than 600 tumors and the literature experience. Appl Immunohistochem Mol Morphol 1994;2:231.Google Scholar
Fellinger, EJ, Garin-Chesa, P, Glasser, DB, Huvos, AG, Rettig, WJ. Comparison of cell surface antigen HBA71 (p30/32MIC2), neuron-specific enolase, and vimentin in the immunohistochemical analysis of Ewing's sarcoma of bone. Am J Surg Pathol 1992;16:746755.Google Scholar
Weiss, LM, Arber, DA, Chang, KL. CD45: a review. Appl Immunohistochem Mol Morphol 1993;1:166.Google Scholar
Ozdemirli, M, Fanburg-Smith, JC, Hartmann, DP, et al. Precursor B-lymphoblastic lymphoma presenting as a solitary bone tumor and mimicking Ewing's sarcoma: a report of four cases and review of the literature. Am J Surg Pathol 1998;22:795804.Google Scholar
Pappo, AS, Douglass, EC, Meyer, WH, Marina, N, Parham, DM. Use of HBA 71 and anti-beta 2-microglobulin to distinguish peripheral neuroepithelioma from neuroblastoma. Hum Pathol 1993;24:880885.Google Scholar
Molenaar, WM, Muntinghe, FL. Expression of neural cell adhesion molecules and neurofilament protein isoforms in skeletal muscle tumors. Hum Pathol 1998;29:12901293.Google Scholar
Strother, DR, Parham, DM, Houghton, PJ. Expression of the 5.1 H11 antigen, a fetal muscle surface antigen, in normal and neoplastic tissue. Arch Pathol Lab Med 1990;114:593596.Google Scholar
Garin-Chesa, P, Fellinger, EJ, Huvos, AG, et al. Immunohistochemical analysis of neural cell adhesion molecules: differential expression in small round cell tumors of childhood and adolescence. Am J Pathol 1991;139:275286.Google Scholar
Mhawech-Fauceglia, P, Herrmann, F, Penetrante, R, et al. Diagnostic utility of FLI-1 monoclonal antibody and dual-colour, break-apart probe fluorescence in situ (FISH) analysis in Ewing's sarcoma/primitive neuroectodermal tumour (EWS/PNET): a comparative study with CD99 and FLI-1 polyclonal antibodies. Histopathology 2006;49:569575.Google Scholar
Yoshida, A, Sekine, S, Tsuta, K, et al. NKX2.2 is a useful immunohistochemical marker for Ewing sarcoma. Am J Surg Pathol 2012;36:993999.Google Scholar
Parham, DM, Dias, P, Kelly, DR, Rutledge, JC, Houghton, P. Desmin positivity in primitive neuroectodermal tumors of childhood. Am J Surg Pathol 1992;16:483492.Google Scholar
Kawamoto, EH, Weidner, N, Agostini, RM Jr., Jaffe, R. Malignant ectomesenchymoma of soft tissue: report of two cases and review of the literature. Cancer 1987;59:17911802.Google Scholar
Le Douarin, NM, Ziller, C. Plasticity in neural crest cell differentiation. Curr Opin Cell Biol 1993;5:10361043.Google Scholar
Boue, DR, Parham, DM, Webber, B, Crist, WM, Qualman, SJ. Clinicopathologic study of ectomesenchymomas from Intergroup Rhabdomyosarcoma Study Groups III and IV. Pediatr Dev Pathol 2000;3:290300.Google Scholar
Navarro, S, Cavazzana, AO, Llombart-Bosch, A, Triche, TJ. Comparison of Ewing's sarcoma of bone and peripheral neuroepithelioma: an immunocytochemical and ultrastructural analysis of two primitive neuroectodermal neoplasms. Arch Pathol Lab Med 1994;118:608615.Google Scholar
Douglass, EC, Rowe, ST, Valentine, M, et al. A second nonrandom translocation, der(16)t(1;16)(q21;q13), in Ewing sarcoma and peripheral neuroectodermal tumor. Cytogenet Cell Genet 1990;53:8790.CrossRefGoogle Scholar
Maurici, D, Perez-Atayde, A, Grier, HE, et al. Frequency and implications of chromosome 8 and 12 gains in Ewing sarcoma. Cancer Genet Cytogenet 1998;100:106110.Google Scholar
Mugneret, F, Lizard, S, Aurias, A, Turc-Carel, C. Chromosomes in Ewing's sarcoma. II. Nonrandom additional changes, trisomy 8 and der(16)t(1;16). Cancer Genet Cytogenet 1988;32:239245.Google Scholar
Hattinger, CM, Rumpler, S, Strehl, S, et al. Prognostic impact of deletions at 1p36 and numerical aberrations in Ewing tumors. Genes Chromosomes Cancer 1999;24:243254.Google Scholar
Armengol, G, Tarkkanen, M, Virolainen, M, et al. Recurrent gains of 1q, 8 and 12 in the Ewing family of tumours by comparative genomic hybridization. Br J Cancer 1997;75:14031409.Google Scholar
Delattre, O, Zucman, J, Plougastel, B, et al. Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours. Nature 1992;359:162165.Google Scholar
Ladanyi, M. The emerging molecular genetics of sarcoma translocations. Diagn Mol Pathol 1995;4:162173.CrossRefGoogle ScholarPubMed
Ouchida, M, Ohno, T, Fujimura, Y, Rao, VN, Reddy, ES. Loss of tumorigenicity of Ewing's sarcoma cells expressing antisense RNA to EWS-fusion transcripts. Oncogene 1995;11:10491054.Google Scholar
Ida, K, Kobayashi, S, Taki, T, et al. EWS-FLI-1 and EWS-ERG chimeric mRNAs in Ewing's sarcoma and primitive neuroectodermal tumor. Int J Cancer 1995;63:500504.Google Scholar
Jeon, IS, Davis, JN, Braun, BS, et al. A variant Ewing's sarcoma translocation (7;22) fuses the EWS gene to the ETS gene ETV1. Oncogene 1995;10:12291234.Google Scholar
Peter, M, Couturier, J, Pacquement, H, et al. A new member of the ETS family fused to EWS in Ewing tumors. Oncogene 1997;14:11591164.Google Scholar
Ishida, S, Yoshida, K, Kaneko, Y, et al. The genomic breakpoint and chimeric transcripts in the EWSR1-ETV4/E1AF gene fusion in Ewing sarcoma. Cytogenet Cell Genet 1998;82:278283.Google Scholar
Kumar, S, Pack, S, Kumar, D, et al. Detection of EWS-FLI-1 fusion in Ewing's sarcoma/peripheral primitive neuroectodermal tumor by fluorescence in situ hybridization using formalin-fixed paraffin-embedded tissue. Hum Pathol 1999;30:324330.Google Scholar
Bridge, RS, Rajaram, V, Dehner, LP, Pfeifer, JD, Perry, A. Molecular diagnosis of Ewing sarcoma/primitive neuroectodermal tumor in routinely processed tissue: a comparison of two FISH strategies and RT-PCR in malignant round cell tumors. Mod Pathol 2006;19:18.Google Scholar
Zucman, J, Melot, T, Desmaze, C, et al. Combinatorial generation of variable fusion proteins in the Ewing family of tumours. EMBO J 1993;12:44814487.Google Scholar
West, DC, Grier, HE, Swallow, MM, et al. Detection of circulating tumor cells in patients with Ewing's sarcoma and peripheral primitive neuroectodermal tumor. J Clin Oncol 1997;15:583588.Google Scholar
Vermeulen, J, Ballet, S, Oberlin, O, et al. Incidence and prognostic value of tumour cells detected by RT-PCR in peripheral blood stem cell collections from patients with Ewing tumour. Br J Cancer 2006;95:13261333.Google Scholar
de Alava, E. Kawai, A, Healey, JH, et al. EWS-FLI1 fusion transcript structure is an independent determinant of prognosis in Ewing's sarcoma. J Clin Oncol 1998;16:1248.CrossRefGoogle ScholarPubMed
Barr, FG, Meyer, WH. Role of fusion subtype in Ewing sarcoma. J Clin Oncol 2010;28:19731974.Google Scholar
Kovar, H, Jug, G, Aryee, DN, et al. Among genes involved in the RB dependent cell cycle regulatory cascade, the p16 tumor suppressor gene is frequently lost in the Ewing family of tumors. Oncogene 1997;15:22252232.Google Scholar
Ladanyi, M, Lewis, R, Jhanwar, SC, et al. MDM2 and CDK4 gene amplification in Ewing's sarcoma. J Pathol 1995;175:211217.Google Scholar
Lawlor, ER, Lim, JF, Tao, W, et al. The Ewing tumor family of peripheral primitive neuroectodermal tumors expresses human gastrin-releasing peptide. Cancer Res 1998;58:24692476.Google ScholarPubMed
May, WA, Grigoryan, RS, Keshelava, N, et al. Characterization and drug resistance patterns of Ewing's sarcoma family tumor cell lines. PloS One 2013;8:e80060.Google Scholar
Rodriguez-Galindo, C, Navid, F, Khoury, J, Krasin, M. Ewing Sarcoma Family of Tumors. Berlin: Springer; 2006: 181218.Google Scholar
Schmidt, D, Herrmann, C, Jurgens, H, Harms, D. Malignant peripheral neuroectodermal tumor and its necessary distinction from Ewing's sarcoma: a report from the Kiel Pediatric Tumor Registry. Cancer 1991;68:22512259.Google Scholar
Parham, DM, Hijazi, Y, Steinberg, SM, et al. Neuroectodermal differentiation in Ewing's sarcoma family of tumors does not predict tumor behavior. Hum Pathol 1999;30:911918.Google Scholar
Oberlin, O, Patte, C, Demeocq, F, et al. The response to initial chemotherapy as a prognostic factor in localized Ewing's sarcoma. Eur J Cancer Clin Oncol 1985;21:463467.Google Scholar
Picci, P, Bohling, T, Bacci, G, et al. Chemotherapy-induced tumor necrosis as a prognostic factor in localized Ewing's sarcoma of the extremities. J Clin Oncol 1997;15:15531559.Google Scholar
Bacci, G, Longhi, A, Ferrari, S, et al. Prognostic factors in non-metastatic Ewing's sarcoma tumor of bone: an analysis of 579 patients treated at a single institution with adjuvant or neoadjuvant chemotherapy between 1972 and 1998. Acta Oncol 2006; 45:469475.Google Scholar
Biswas, B, Shukla, NK, Deo, SV, et al. Evaluation of outcome and prognostic factors in extraosseous Ewing sarcoma. Pediatr Blood Cancer 2014;61:19251931.Google Scholar
Aparicio, J, Munarriz, B, Pastor, M, et al. Long-term follow-up and prognostic factors in Ewing's sarcoma: a multivariate analysis of 116 patients from a single institution. Oncology 1998;55:2026.Google Scholar
Wexler, LH, DeLaney, TF, Tsokos, M, et al. Ifosfamide and etoposide plus vincristine, doxorubicin, and cyclophosphamide for newly diagnosed Ewing's sarcoma family of tumors. Cancer 1996;78:901911.Google Scholar
Jurgens, H, Exner, U, Gadner, H, et al. Multidisciplinary treatment of primary Ewing's sarcoma of bone: a 6-year experience of a European Cooperative Trial. Cancer 1988;61:2332.Google Scholar
Ozaki, T, Hillmann, A, Hoffmann, C, et al. Significance of surgical margin on the prognosis of patients with Ewing's sarcoma: a report from the Cooperative Ewing's Sarcoma Study. Cancer 1996;78:892900.Google Scholar
Evans, RG. The four S's of Ewing's sarcoma. Int J Radiat Oncol Biol Phys 1991;21:16711673.Google Scholar
Thorner, P, Squire, J, Chilton-MacNeil, S, et al. Is the EWS/FLI-1 fusion transcript specific for Ewing sarcoma and peripheral primitive neuroectodermal tumor?: a report of four cases showing this transcript in a wider range of tumor types. Am J Pathol 1996;148:11251138.Google Scholar
Ahmed, AA, Nava, VE, Pham, T, et al. Ewing sarcoma family of tumors in unusual sites: confirmation by rt-PCR. Pediatr Dev Pathol 2006;9:488495.Google Scholar
Wei, S, Siegal, GP. Round cell tumors of bone: an update on recent molecular genetic advances. Adv Anat Pathol 2014;21:359372.Google Scholar
Marino-Enriquez, A, Fletcher, CD. Round cell sarcomas: biologically important refinements in subclassification. Int J Biochem Cell Biol 2014;53:493504.Google Scholar
Italiano, A, Sung, YS, Zhang, L, et al. High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas. Genes Chromosomes Cancer 2012;51:207218.Google Scholar
Sugita, S, Arai, Y, Tonooka, A, et al. A novel CIC-FOXO4 gene fusion in undifferentiated small round cell sarcoma: a genetically distinct variant of Ewing-like sarcoma. Am J Surg Pathol 2014;38:15711576.Google Scholar
Graham, C, Chilton-MacNeill, S, Zielenska, M, Somers, GR. The CIC-DUX4 fusion transcript is present in a subgroup of pediatric primitive round cell sarcomas. Hum Pathol 2012;43:180189.Google Scholar
Cohen-Gogo, S, Cellier, C, Coindre, JM, et al. Ewing-like sarcomas with BCOR-CCNB3 fusion transcript: a clinical, radiological and pathological retrospective study from the Societe Francaise des Cancers de L'Enfant. Pediatr Blood Cancer 2014;61:21912198.Google Scholar
Puls, F, Niblett, A, Marland, G, et al. BCOR-CCNB3 (Ewing-like) sarcoma: a clinicopathologic analysis of 10 cases, in comparison with conventional Ewing sarcoma. Am J Surg Pathol 2014;38:13071318.Google Scholar
Pierron, G, Tirode, F, Lucchesi, C, et al. A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion. Nat Genet 2012;44:461466.Google Scholar
Dehner, LP. The evolution of the diagnosis and understanding of primitive and embryonic neoplasms in children: living through an epoch. Mod Pathol 1998;11:669685.Google Scholar
Wright, J. Neurocytoma or neuroblastoma, a kind of tumor not generally recognized. J Exp Med 1910;12:556561.Google Scholar
Willis, RA. The Borderland of Embryology and Pathology, 2nd edn. London: Butterworths; 1962.Google Scholar
Dehner, LP. Whence the primitive neuroectodermal tumor? Arch Pathol Lab Med 1990;114:1617.Google Scholar
Beckwith, JB, Martin, RF. Observations on the histopathology of neuroblastomas. J Pediatr Surg 1968;3:106110.Google Scholar
Joshi, VV, Cantor, AB, Altshuler, G, et al. Age-linked prognostic categorization based on a new histologic grading system of neuroblastomas: a clinicopathologic study of 211 cases from the Pediatric Oncology Group. Cancer 1992;69:21972211.Google Scholar
Shimada, H, Chatten, J, Newton, WA Jr., et al. Histopathologic prognostic factors in neuroblastic tumors: definition of subtypes of ganglioneuroblastoma and an age-linked classification of neuroblastomas. J Natl Cancer Inst 1984;73:405416.Google Scholar
Shimada, H, Ambros, IM, Dehner, LP, et al. The International Neuroblastoma Pathology Classification (the Shimada system). Cancer 1999;86:364372.Google Scholar
Beckwith, JB, Perrin, EV. In situ neuroblastomas: a contribution to the natural history of neural crest tumors. Am J Pathol 1963;43:10891104.Google Scholar
Acharya, S, Jayabose, S, Kogan, SJ, et al. Prenatally diagnosed neuroblastoma. Cancer 1997;80:304310.Google Scholar
Look, AT, Hayes, FA, Nitschke, R, McWilliams, NB, Green, AA. Cellular DNA content as a predictor of response to chemotherapy in infants with unresectable neuroblastoma. N Engl J Med 1984;311:231235.Google Scholar
Brodeur, GM, Moley, JF. Biology of tumors of the peripheral nervous system. Cancer Metast Rev 1991;10:321333.Google Scholar
Maris, JM, Matthay, KK. Molecular biology of neuroblastoma. J Clin Oncol 1999;17:22642279.Google Scholar
Sano, H, Bonadio, J, Gerbing, RB, et al. International neuroblastoma pathology classification adds independent prognostic information beyond the prognostic contribution of age. Eur J Cancer 2006;42:11131119.Google Scholar
Navarro, S, Amann, G, Beiske, K, et al., European Study Group T. Protocol: Prognostic value of International Neuroblastoma Pathology Classification in localized resectable peripheral neuroblastic tumors: a histopathologic study of localized neuroblastoma European Study Group 94.01 Trial and Protocol. J Clin Oncol 2006;24:695699.Google Scholar
Peuchmaur, M, d'Amore, ES, Joshi, VV, et al. Revision of the International Neuroblastoma Pathology Classification: confirmation of favorable and unfavorable prognostic subsets in ganglioneuroblastoma, nodular. Cancer 2003;98:22742281.Google Scholar
Okamatsu, C, London, WB, Naranjo, A, et al. Clinicopathological characteristics of ganglioneuroma and ganglioneuroblastoma: a report from the CCG and COG. Pediatr Blood Cancer 2009;53:563569.Google Scholar
Sano, H, Gonzalez-Gomez, I, Wu, SQ, et al. A case of composite neuroblastoma composed of histologically and biologically distinct clones. Pediatr Dev Pathol 2007;10:229232.Google Scholar
Dehner, LP. Peripheral and central primitive neuroectodermal tumors: a nosologic concept seeking a consensus. Arch Pathol Lab Med 1986;110:9971005.Google Scholar
Matthay, KK. Neuroblastoma: a clinical challenge and biologic puzzle. CA Cancer J Clin 1995;45:179192.Google Scholar
Evans, AE, D’Angio, GJ, Propert, K, et al. Prognostic factors in neuroblastoma. Cancer 1987;59:18531859.Google Scholar
Kelly, DR, Joshi, VV. Neuroblastoma and related tumors. In Pediatric Neoplasia: Morphology and Biology. Parham, DM (ed.) Philadelphia: Lippincott-Raven; 1996: 105.Google Scholar
Bolande, RP. A natural immune system in pregnancy serum lethal to human neuroblastoma cells: a possible mechanism of spontaneous regression. Perspect Pediatr Pathol 1992;16:120133.Google Scholar
Graeve, JL, de Alarcon, PA, Sato, Y, Pringle, K, Helson, L. Miliary pulmonary neuroblastoma: a risk of autologous bone marrow transplantation? Cancer 1988;62:21252127.3.0.CO;2-1>CrossRefGoogle ScholarPubMed
Telles, NC, Rabson, AS, Pomeroy, TC. Ewing's sarcoma: an autopsy study. Cancer 1978;41:23212329.Google Scholar
Brodeur, GM, Pritchard, J, Berthold, F, et al. Revisions of the international criteria for neuroblastoma diagnosis, staging, and response to treatment. J Clin Oncol 1993;11:14661477.Google Scholar
Katzenstein, HM, Kent, PM, London, WB, Cohn, SL. Treatment and outcome of 83 children with intraspinal neuroblastoma: the Pediatric Oncology Group experience. J Clin Oncol 2001;19:10471055.Google Scholar
Escobar, MA, Grosfeld, JL, Powell, RL, et al. Long-term outcomes in patients with stage IV neuroblastoma. J Pediatr Surg 2006;41:377381.Google Scholar
Joshi, VV, Silverman, JF, Altshuler, G, et al. Systematization of primary histopathologic and fine-needle aspiration cytologic features and description of unusual histopathologic features of neuroblastic tumors: a report from the Pediatric Oncology Group. Hum Pathol 1993;24:493504.Google Scholar
Shimada, H, Ambros, IM, Dehner, LP, et al. Terminology and morphologic criteria of neuroblastic tumors: recommendations by the International Neuroblastoma Pathology Committee. Cancer 1999;86:349363.Google Scholar
Wang, LL, Suganuma, R, Ikegaki, N, et al. Neuroblastoma of undifferentiated subtype, prognostic significance of prominent nucleolar formation, and MYC/MYCN protein expression: a report from the Children's Oncology Group. Cancer 2013;119:37183726.Google Scholar
Umehara, S, Nakagawa, A, Matthay, KK, et al. Histopathology defines prognostic subsets of ganglioneuroblastoma, nodular. Cancer 2000;89:11501161.Google Scholar
Cozzutto, C, Carbone, A. Pleomorphic (anaplastic) neuroblastoma. Arch Pathol Lab Med 1988;112:621625.Google Scholar
Navarro, S, Noguera, R, Pellin, A, et al. Pleomorphic anaplastic neuroblastoma. Med Pediatr Oncol 2000;35:498502.Google Scholar
Gonzalez-Crussi, F, Hsueh, W. Bilateral adrenal ganglioneuroblastoma with neuromelanin: clinical and pathologic observations. Cancer 1988;61:11591166.Google Scholar
Tsokos, M, Scarpa, S, Ross, RA, Triche, TJ. Differentiation of human neuroblastoma recapitulates neural crest development: study of morphology, neurotransmitter enzymes, and extracellular matrix proteins. Am J Pathol 1987;128:484496.Google Scholar
Balazs, M. Mixed pheochromocytoma and ganglioneuroma of the adrenal medulla: a case report with electron microscopic examination. Hum Pathol 1988;19:13521355.Google Scholar
Cooper, R, Khakoo, Y, Matthay, KK, et al. Opsoclonus-myoclonus-ataxia syndrome in neuroblastoma: histopathologic features-a report from the Children's Cancer Group. Med Pediatr Oncol 2001;36:623629.Google Scholar
Blatt, J, Gula, MJ, Orlando, SJ, et al. Indolent course of advanced neuroblastoma in children older than 6 years at diagnosis. Cancer 1995;76:890894.Google Scholar
Mierau, GW, Berry, PJ, Malott, RL, Weeks, DA. Appraisal of the comparative utility of immunohistochemistry and electron microscopy in the diagnosis of childhood round cell tumors. Ultrastruct Pathol 1996;20:507517.Google Scholar
Dias, P, Kumar, P, Marsden, HB, et al. N-myc gene is amplified in alveolar rhabdomyosarcomas (RMS) but not in embryonal RMS. Int J Cancer 1990;45:593596.Google Scholar
Driman, D, Thorner, PS, Greenberg, ML, Chilton-MacNeill, S, Squire, J. MYCN gene amplification in rhabdomyosarcoma. Cancer 1994;73:22312237.Google Scholar
Leader, M, Collins, M, Patel, J, Henry, K. Antineuron specific enolase staining reactions in sarcomas and carcinomas: its lack of neuroendocrine specificity. J Clin Pathol 1986;39:11861192.Google Scholar
Bielle, F, Freneaux, P, Jeanne-Pasquier, C, et al. PHOX2B immunolabeling: a novel tool for the diagnosis of undifferentiated neuroblastomas among childhood small round blue-cell tumors. Am J Surg Pathol 2012;36:11411149.Google Scholar
Brodeur, GM, Green, AA, Hayes, FA, et al. Cytogenetic features of human neuroblastomas and cell lines. Cancer Res 1981;41:46784686.Google ScholarPubMed
Caren, H, Ejeskar, K, Fransson, S, et al. A cluster of genes located in 1p36 are down-regulated in neuroblastomas with poor prognosis, but not due to CpG island methylation. Mol Cancer 2005;4:10.Google Scholar
Henrich, KO, Bauer, T, Schulte, J, et al. CAMTA1, a 1p36 tumor suppressor candidate, inhibits growth and activates differentiation programs in neuroblastoma cells. Cancer Res 2011;71:31423151.Google Scholar
Fransson, S, Martinsson, T, Ejeskar, K. Neuroblastoma tumors with favorable and unfavorable outcomes: significant differences in mRNA expression of genes mapped at 1p36.2. Genes Chromosomes Cancer 2007;46:4552.Google Scholar
Iehara, T, Hosoi, H, Akazawa, K, et al. MYCN gene amplification is a powerful prognostic factor even in infantile neuroblastoma detected by mass screening. Br J Cancer 2006;94:15101515.Google Scholar
Shapiro, DN, Valentine, MB, Rowe, ST, et al. Detection of N-myc gene amplification by fluorescence in situ hybridization: diagnostic utility for neuroblastoma. Am J Pathol 1993;142:13391346.Google Scholar
Bhargava, R, Oppenheimer, O, Gerald, W, Jhanwar, SC, Chen, B. Identification of MYCN gene amplification in neuroblastoma using chromogenic in situ hybridization (CISH): an alternative and practical method. Diagn Mol Pathol 2005;14:7276.Google Scholar
Look, AT, Hayes, FA, Shuster, JJ, et al. Clinical relevance of tumor cell ploidy and N-myc gene amplification in childhood neuroblastoma: a Pediatric Oncology Group study. J Clin Oncol 1991;9:581591.Google Scholar
Tanaka, T, Sugimoto, T, Sawada, T. Prognostic discrimination among neuroblastomas according to Ha-ras/trk A gene expression: a comparison of the profiles of neuroblastomas detected clinically and those detected through mass screening. Cancer 1998;83:16261633.Google Scholar
Ohali, A, Avigad, S, Ash, S, et al. Telomere length is a prognostic factor in neuroblastoma. Cancer 2006;107:13911399.Google Scholar
Carpenter, EL, Mosse, YP. Targeting ALK in neuroblastoma: preclinical and clinical advancements. Nat Rev Clin Oncol 2012;9:391399.Google Scholar
Cheung, NK, Zhang, J, Lu, C, et al. Association of age at diagnosis and genetic mutations in patients with neuroblastoma. JAMA 2012;307:10621071.Google Scholar
Brodeur, GM, Azar, C, Brother, M, et al. Neuroblastoma: effect of genetic factors on prognosis and treatment. Cancer 1992;70:16851694.3.0.CO;2-H>CrossRefGoogle ScholarPubMed
Valentijn, LJ, Koster, J, Haneveld, F, et al. Functional MYCN signature predicts outcome of neuroblastoma irrespective of MYCN amplification. Proc Natl Acad Sci USA 2012;109:1919019195.Google Scholar
Elimam, NA, Atra, AA, Fayea, NY, et al. Stage 4S neuroblastoma, a disseminated tumor with excellent outcome. Saudi Med J 2006;27:17341736.Google Scholar
Burgues, O, Navarro, S, Noguera, R, et al. Prognostic value of the International Neuroblastoma Pathology Classification in Neuroblastoma (Schwannian stroma-poor) and comparison with other prognostic factors: a study of 182 cases from the Spanish Neuroblastoma Registry. Virchows Arch 2006;449:410420.Google Scholar
Ordonez, NG. Desmoplastic small round cell tumor. I: A histopathologic study of 39 cases with emphasis on unusual histological patterns. Am J Surg Pathol 1998;22:13031313.Google Scholar
Gerald, WL, Miller, HK, Battifora, H, et al. Intra-abdominal desmoplastic small round-cell tumor: report of 19 cases of a distinctive type of high-grade polyphenotypic malignancy affecting young individuals. Am J Surg Pathol 1991;15:499513.Google Scholar
Sawyer, JR, Tryka, AF, Lewis, JM. A novel reciprocal chromosome translocation t(11;22)(p13;q12) in an intraabdominal desmoplastic small round-cell tumor. Am J Surg Pathol 1992;16:411416.Google Scholar
Ladanyi, M, Gerald, W. Fusion of the EWS and WT1 genes in the desmoplastic small round cell tumor. Cancer Res 1994;54:28372840.Google Scholar
Kretschmar, CS, Colbach, C, Bhan, I, Crombleholme, TM. Desmoplastic small cell tumor: a report of three cases and a review of the literature. J Pediatr Hematol Oncol 1996;18:293298.Google Scholar
Ordonez, NG, el-Naggar, AK, Ro, JY, Silva, EG, Mackay, B. Intra-abdominal desmoplastic small cell tumor: a light microscopic, immunocytochemical, ultrastructural, and flow cytometric study. Hum Pathol 1993;24:850865.Google Scholar
Kawano, N, Inayama, Y, Nagashima, Y, et al. Desmoplastic small round-cell tumor of the paratesticular region: report of an adult case with demonstration of EWS and WT1 gene fusion using paraffin-embedded tissue. Mod Pathol 1999;12:729734.Google Scholar
Adsay, V, Cheng, J, Athanasian, E, Gerald, W, Rosai, J. Primary desmoplastic small cell tumor of soft tissues and bone of the hand. Am J Surg Pathol 1999;23:14081413.Google Scholar
Bian, Y, Jordan, AG, Rupp, M, et al. Effusion cytology of desmoplastic small round cell tumor of the pleura: a case report. Acta Cytol 1993;37:7782.Google Scholar
Tison, V, Cerasoli, S, Morigi, F, et al. Intracranial desmoplastic small-cell tumor. Report of a case. Am J Surg Pathol 1996;20:112117.Google Scholar
Karavitakis, EM, Moschovi, M, Stefanaki, K, et al. Desmoplastic small round cell tumor of the pleura. Pediatr Blood Cancer 2007;49:335338.Google Scholar
Wang, LL, Perlman, EJ, Vujanic, GM, et al. Desmoplastic small round cell tumor of the kidney in childhood. Am J Surg Pathol 2007;31:576584.Google Scholar
Finke, NM, Lae, ME, Lloyd, RV, Gehani, SK, Nascimento, AG. Sinonasal desmoplastic small round cell tumor: a case report. Am J Surg Pathol 2002;26:799803.Google Scholar
Schmidt, D, Koster, E, Harms, D. Intraabdominal desmoplastic small-cell tumor with divergent differentiation: clinicopathological findings and DNA ploidy. Med Pediatr Oncol 1994;22:97102.Google Scholar
Lettieri, CK, Garcia-Filion, P, Hingorani, P. Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database. J Cancer Epidemiol 2014;2014:680126.Google Scholar
Zhang, J, Dalton, J, Fuller, C. Epithelial marker-negative desmoplastic small round cell tumor with atypical morphology: definitive classification by fluorescence in situ hybridization. Arch Pathol Lab Med 2007;131:646649.Google Scholar
Ordonez, NG. Desmoplastic small round cell tumor. II: An ultrastructural and immunohistochemical study with emphasis on new immunohistochemical markers. Am J Surg Pathol 1998;22:13141327.Google Scholar
Murphy, AJ, Bishop, K, Pereira, C, et al. A new molecular variant of desmoplastic small round cell tumor: significance of WT1 immunostaining in this entity. Hum Pathol 2008;39:17631770.Google Scholar
Trupiano, JK, Machen, SK, Barr, FG, Goldblum, JR. Cytokeratin-negative desmoplastic small round cell tumor: a report of two cases emphasizing the utility of reverse transcriptase-polymerase chain reaction. Mod Pathol 1999;12:849853.Google Scholar
Roberts, DJ, Haber, D, Sklar, J, Crum, CP. Extrarenal Wilms' tumors: a study of their relationship with classical renal Wilms' tumor using expression of WT1 as a molecular marker. Lab Invest 1993;68:528536.Google Scholar
de Alava, E, Ladanyi, M, Rosai, J, Gerald, WL. Detection of chimeric transcripts in desmoplastic small round cell tumor and related developmental tumors by reverse transcriptase polymerase chain reaction: a specific diagnostic assay. Am J Pathol 1995;147:15841591.Google Scholar
Argatoff, LH, O'Connell, JX, Mathers, JA, Gilks, CB, Sorensen, PH. Detection of the EWS/WT1 gene fusion by reverse transcriptase-polymerase chain reaction in the diagnosis of intra-abdominal desmoplastic small round cell tumor. Am J Surg Pathol 1996;20:406412.Google Scholar
Katz, RL, Quezado, M, Senderowicz, AM, et al. An intra-abdominal small round cell neoplasm with features of primitive neuroectodermal and desmoplastic round cell tumor and a EWS/FLI-1 fusion transcript. Hum Pathol 1997;28:502509.Google Scholar
Gardner, LJ, Ayala, AG, Monforte, HL, Dunphy, CH. Ewing sarcoma/peripheral primitive neuroectodermal tumor: adult abdominal tumors with an Ewing sarcoma gene rearrangement demonstrated by fluorescence in situ hybridization in paraffin sections. Appl Immunohistochem Mol Morphol 2004;12:160165.Google Scholar
Ordi, J, de Alava, E, Torne, A, et al. Intraabdominal desmoplastic small round cell tumor with EWS/ERG fusion transcript. Am J Surg Pathol 1998;22:10261032.Google Scholar
Alaggio, R, Rosolen, A, Sartori, F, et al. Spindle cell tumor with EWS-WT1 transcript and a favorable clinical course: a variant of DSCT, a variant of leiomyosarcoma, or a new entity?: report of 2 pediatric cases. Am J Surg Pathol 2007;31:454459.Google Scholar
Amato, RJ, Ellerhorst, JA, Ayala, AG. Intraabdominal desmoplastic small cell tumor. Report and discussion of five cases. Cancer 1996;78:845851.Google Scholar
Saab, R, Khoury, JD, Krasin, M, Davidoff, AM, Navid, F. Desmoplastic small round cell tumor in childhood: the St. Jude Children's Research Hospital experience. Pediatr Blood Cancer 2007;49:274279.Google Scholar
Coppes, MJ, Wilson, PC, Weitzman, S. Extrarenal Wilms' tumor: staging, treatment, and prognosis. J Clin Oncol 1991;9:167174.CrossRefGoogle ScholarPubMed
Arnold, MA, Schoenfield, L, Limketkai, BN, Arnold, CA. Diagnostic pitfalls of differentiating desmoplastic small round cell tumor (DSRCT) from Wilms tumor (WT): overlapping morphologic and immunohistochemical features. Am J Surg Pathol 2014;38:12201226.Google Scholar
Biegel, JA, Busse, TM, Weissman, BE. SWI/SNF chromatin remodeling complexes and cancer. Am J Med Genet C Semin Med Genet 2014;166c:350366.Google Scholar
Hasselblatt, M, Gesk, S, Oyen, F, et al. Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. Am J Surg Pathol 2011;35:933935.Google Scholar
Parham, DM, Weeks, DA, Beckwith, JB. The clinicopathologic spectrum of putative extrarenal rhabdoid tumors: an analysis of 42 cases studied with immunohistochemistry or electron microscopy. Am J Surg Pathol 1994;18:10101029.Google Scholar
Leong, FJ, Leong, AS. Malignant rhabdoid tumor in adults–heterogenous tumors with a unique morphological phenotype. Pathol Res Pract 1996;192:796807.Google Scholar
White, FV, Dehner, LP, Belchis, DA, et al. Congenital disseminated malignant rhabdoid tumor: a distinct clinicopathologic entity demonstrating abnormalities of chromosome 22q11. Am J Surg Pathol 1999;23:249256.Google Scholar
Simons, J, Teshima, I, Zielenska, M, et al. Analysis of chromosome 22q as an aid to the diagnosis of rhabdoid tumor: a case report. Am J Surg Pathol 1999;23:982988.Google Scholar
Beckwith, JB, Palmer, NF. Histopathology and prognosis of Wilms tumors: results from the First National Wilms' Tumor Study. Cancer 1978;41:19371948.Google Scholar
Haas, JE, Palmer, NF, Weinberg, AG, Beckwith, JB. Ultrastructure of malignant rhabdoid tumor of the kidney: a distinctive renal tumor of children. Hum Pathol 1981;12:646657.Google Scholar
Balaton, AJ, Vaury, P, Videgrain, M. Paravertebral malignant rhabdoid tumor in an adult: a case report with immunocytochemical study. Pathol Res Pract 1987;182:713718.Google Scholar
Tsuneyoshi, M, Daimaru, Y, Hashimoto, H, Enjoji, M. Malignant soft tissue neoplasms with the histologic features of renal rhabdoid tumors: an ultrastructural and immunohistochemical study. Hum Pathol 1985;16:12351242.Google Scholar
Gonzalez-Crussi, F, Goldschmidt, RA, Hsueh, W, Trujillo, YP. Infantile sarcoma with intracytoplasmic filamentous inclusions: distinctive tumor of possible histiocytic origin. Cancer 1982;49:23652375.Google Scholar
Lemos, LB, Hamoudi, AB. Malignant thymic tumor in an infant (malignant histiocytoma). Arch Pathol Lab Med 1978;102:8489.Google Scholar
Hajdu, S. Pathology of Soft Tissue Tumors. Philadelphia: Lea & Febiger; 1979.Google Scholar
Kodet, R, Newton, WA Jr., Hamoudi, AB, Asmar, L. Rhabdomyosarcomas with intermediate-filament inclusions and features of rhabdoid tumors: light microscopic and immunohistochemical study. Am J Surg Pathol 1991;15:257267.Google Scholar
Tsuneyoshi, M, Daimaru, Y, Hashimoto, H, Enjoji, M. The existence of rhabdoid cells in specified soft tissue sarcomas: histopathological, ultrastructural and immunohistochemical evidence. Virchows Arch A Pathol Anat Histopathol 1987;411:509514.Google Scholar
Tsokos, M, Kouraklis, G, Chandra, RS, Bhagavan, BS, Triche, TJ. Malignant rhabdoid tumor of the kidney and soft tissues: avidence for a diverse morphological and immunocytochemical phenotype. Arch Pathol Lab Med 1989;113:115120.Google Scholar
Fanburg-Smith, JC, Hengge, M, Hengge, UR, Smith, JS Jr., Miettinen, M. Extrarenal rhabdoid tumors of soft tissue: a clinicopathologic and immunohistochemical study of 18 cases. Ann Diagn Pathol 1998;2:351362.Google Scholar
Rorke, LB, Packer, RJ, Biegel, JA. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg 1996;85:5665.Google Scholar
Hollmann, TJ, Hornick, JL. INI1-deficient tumors: diagnostic features and molecular genetics. Am J Surg Pathol 2011;35:e47e63.Google Scholar
Wick, MR, Ritter, JH, Dehner, LP. Malignant rhabdoid tumors: a clinicopathologic review and conceptual discussion. Semin Diagn Pathol 1995;12:233248.Google Scholar
Chung, CJ, Cammoun, D, Munden, M. Rhabdoid tumor of the kidney presenting as an abdominal mass in a newborn. Pediatr Radiol 1990;20:562563.Google Scholar
Kent, AL, Mahoney, DH Jr., Gresik, MV, Steuber, CP, Fernbach, DJ. Malignant rhabdoid tumor of the extremity. Cancer 1987;60:10561059.Google Scholar
Dabbs, DJ, Park, HK. Malignant rhabdoid skin tumor: an uncommon primary skin neoplasm. Ultrastructural and immunohistochemical analysis. J Cutan Pathol 1988;15:109115.Google Scholar
Dominey, A, Paller, AS, Gonzalez-Crussi, F. Congenital rhabdoid sarcoma with cutaneous metastases. J Am Acad Dermatol 1990;22:969974.Google Scholar
Perez-Atayde, AR, Newbury, R, Fletcher, JA, Barnhill, R, Gellis, S. Congenital "neurovascular hamartoma" of the skin: a possible marker of malignant rhabdoid tumor. Am J Surg Pathol 1994;18:10301038.Google Scholar
Jayabose, S, Iqbal, K, Newman, L, et al. Hypercalcemia in childhood renal tumors. Cancer 1988;61:788791.Google Scholar
Mayes, LC, Kasselberg, AG, Roloff, JS, Lukens, JN. Hypercalcemia associated with immunoreactive parathyroid hormone in a malignant rhabdoid tumor of the kidney (rhabdoid Wilms' tumor). Cancer 1984;54:882884.Google Scholar
Rousseau-Merck, MF, Nogues, C, Roth, A, et al. Hypercalcemic infantile renal tumors: morphological, clinical, and biological heterogeneity. Pediatr Pathol 1985;3:155164.Google Scholar
Bonnin, JM, Rubinstein, LJ, Palmer, NF, Beckwith, JB. The association of embryonal tumors originating in the kidney and in the brain: a report of seven cases. Cancer 1984;54:21372146.Google Scholar
Chang, CH, Ramirez, N, Sakr, WA. Primitive neuroectodermal tumor of the brain associated with malignant rhabdoid tumor of the liver: a histologic, immunohistochemical, and electron microscopic study. Pediatr Pathol 1989;9:307319.Google Scholar
Weeks, DA, Beckwith, JB, Mierau, GW, Luckey, DW. Rhabdoid tumor of kidney: a report of 111 cases from the National Wilms' Tumor Study Pathology Center. Am J Surg Pathol 1989;13:439458.Google Scholar
Suzuki, A, Ohta, S, Shimada, M. Gene expression of malignant rhabdoid tumor cell lines by reverse transcriptase-polymerase chain reaction. Diagn Mol Pathol 1997;6:326332.Google Scholar
Hoot, AC, Russo, P, Judkins, AR, Perlman, EJ, Biegel, JA. Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors. Am J Surg Pathol 2004;28:14851491.Google Scholar
Fuller, CE, Pfeifer, J, Humphrey, P, et al. Chromosome 22q dosage in composite extrarenal rhabdoid tumors: clonal evolution or a phenotypic mimic? Hum Pathol 2001;32:11021108.Google Scholar
Wyatt-Ashmead, J, Kleinschmidt-DeMasters, B, Mierau, GW, et al. Choroid plexus carcinomas and rhabdoid tumors: phenotypic and genotypic overlap. Pediatr Dev Pathol 2001;4:545549.Google Scholar
Judkins, AR, Burger, PC, Hamilton, RL, et al. INI1 protein expression distinguishes atypical teratoid/rhabdoid tumor from choroid plexus carcinoma. J Neuropathol Exp Neurol 2005;64:391397.Google Scholar
Oda, Y, Tsuneyoshi, M. Extrarenal rhabdoid tumors of soft tissue: clinicopathological and molecular genetic review and distinction from other soft-tissue sarcomas with rhabdoid features. Pathol Int 2006;56:287295.Google Scholar
Modena, P, Lualdi, E, Facchinetti, F, et al. SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas. Cancer Res 2005;65:40124019.Google Scholar
Donner, LR, Wainwright, LM, Zhang, F, Biegel, JA. Mutation of the INI1 gene in composite rhabdoid tumor of the endometrium. Hum Pathol 2007;38:935939.Google Scholar
Cho, YM, Choi, J, Lee, OJ, et al. SMARCB1/INI1 missense mutation in mucinous carcinoma with rhabdoid features. Pathol Int 2006;56:702706.Google Scholar
Douglass, EC, Valentine, M, Rowe, ST, et al. Malignant rhabdoid tumor: a highly malignant childhood tumor with minimal karyotypic changes. Genes Chromosomes Cancer 1990;2:210216.Google Scholar
Biegel, JA, Rorke, LB, Emanuel, BS. Monosomy 22 in rhabdoid or atypical teratoid tumors of the brain. N Engl J Med 1989;321:906.Google Scholar
Bhattacharjee, MB, Armstrong, DD, Vogel, H, Cooley, LD. Cytogenetic analysis of 120 primary pediatric brain tumors and literature review. Cancer Genet Cytogenet 1997;97:3953.Google Scholar
Schofield, DE, Beckwith, JB, Sklar, J. Loss of heterozygosity at chromosome regions 22q11-12 and 11p15.5 in renal rhabdoid tumors. Genes Chromosomes Cancer 1996;15:1017.Google Scholar
Biegel, JA, Allen, CS, Kawasaki, K, et al. Narrowing the critical region for a rhabdoid tumor locus in 22q11. Genes Chromosomes Cancer 1996;16:94105.Google Scholar
Versteege, I, Sevenet, N, Lange, J, et al. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 1998;394:203206.Google Scholar
Biegel, JA. Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus 2006;20:E11.Google Scholar
Janson, K, Nedzi, LA, David, O, et al. Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation. Pediatr Blood Cancer 2006;47:279284.Google Scholar
Garvin, AJ, Re, GG, Tarnowski, BI, Hazen-Martin, DJ, Sens, DA. The G401 cell line, utilized for studies of chromosomal changes in Wilms’ tumor, is derived from a rhabdoid tumor of the kidney. Am J Pathol 1993;142:375380.Google Scholar
Reid, LH, Davies, C, Cooper, PR, et al. A 1-Mb physical map and PAC contig of the imprinted domain in 11p15.5 that contains TAPA1 and the BWSCR1/WT2 region. Genomics 1997;43:366375.Google Scholar
Sabbioni, S, Barbanti-Brodano, G, Croce, CM, Negrini, M. GOK: a gene at 11p15 involved in rhabdomyosarcoma and rhabdoid tumor development. Cancer Res 1997;57:44934497.Google Scholar
Fruhwald, MC, Hasselblatt, M, Wirth, S, et al. Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. Pediatr Blood Cancer 2006;47:273278.Google Scholar
Bourdeaut, F, Freneaux, P, Thuille, B, et al. hSNF5/INI1-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities. J Pathol 2007;211:323330.Google Scholar
Bittesini, L, Dei Tos, AP, Fletcher, CD. Metastatic malignant melanoma showing a rhabdoid phenotype: further evidence of a non-specific histological pattern. Histopathology 1992;20:167170.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×