Skip to main content Accessibility help
×
Hostname: page-component-586b7cd67f-rcrh6 Total loading time: 0 Render date: 2024-11-27T21:19:21.115Z Has data issue: false hasContentIssue false

Chapter 14 - Acute Myeloid Leukemia with Related Precursor Neoplasms

from Section IV - Neoplastic Disorders of Bone Marrow

Published online by Cambridge University Press:  25 January 2024

Xiayuan Liang
Affiliation:
Children’s Hospital of Colorado
Bradford Siegele
Affiliation:
Children’s Hospital of Colorado
Jennifer Picarsic
Affiliation:
Cincinnati Childrens Hospital Medicine Center
Get access

Summary

Acute myeloid leukemia (AML) is a heterogenous group of diseases representing a clonal expansion of immature, non-lymphoid, bone marrow–derived cells that involve the bone marrow and blood and may also be present in other tissues [1,2]. In the pediatric population, AML is less common than lymphoblastic leukemia, accounting for approximately 18% of childhood leukemia diagnoses [3]. Although the cause of AML in many cases is unknown [1], as molecular genetics has been evolving over the last couple of decades, new molecular technology has enhanced our knowledge of the underlying genetic defects and gene mutations associated with the development of AML. It has been demonstrated that AML occurs more commonly in children with pre-existing genetic disorders, such as Down syndrome (DS) or Fanconi anemia, and familial cases of AML are now recognized [1]. A subset arises from pre-existing myelodysplastic syndrome (MDS) or after therapy for another neoplasm.

Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2024

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

Arber, DA. Acute myeloid leukemia. In: Elaine, SJ, Arber, DA, Campo, E, et al., eds. Hematopathology, 2nd ed. Philadelphia, PA: Elsevier; 2017:817–45.Google Scholar
Arber, DA, Brunning, RD, Orazi, A, et al. Acute myeloid leukaemia, not otherwise specified. In: Swerdlow, SH, Campo, E, Harris, NL, et al., eds. WHO classification of tumours of haematopoietic and lymphoid tissues, rev. 4th ed. Lyon, France: IARC Press; 2017:156–66.Google Scholar
Puumala, SE, Ross, JA, Aplenc, R, et al. Epidemiology of childhood acute myeloid leukemia. Pediatr Blood Cancer. 2013;60:728–33.CrossRefGoogle ScholarPubMed
Lorsbach, RB. Acute myeloid leukemia and related precursor neoplasms. In: Proytcheva, MA, ed. Diagnostic pediatric hematopathology. Cambridge, UK: Cambridge University Press; 2011:272309.Google Scholar
Swerdlow, SH, Campo, E, Harris, NL, et al. Acute myeloid leukaemia and related precursor neoplasms. In: Swerdlow, SH, Campo, E, Harris, NL, et al., eds. WHO classification of tumours of haematopoietic and lymphoid tissues, 4th ed. Lyon, France: IARC Press; 2008:109–47.Google Scholar
Swerdlow, SH, Campo, E, Harris, NL, et al. Acute myeloid leukaemia and related precursor neoplasms. In: Swerdlow, SH, Campo, E, Harris, NL, et al., eds. WHO classification of tumours of haematopoietic and lymphoid tissues, rev. 4th ed. Lyon, France; IARC Press; 2017:129–71.Google Scholar
Matynia, AP, Szankasi, P, Shen, W, et al. Molecular genetic biomarkers in myeloid malignancies. Arch Path Lab Med. 2015;139:594601.Google Scholar
Arber, DA, Brunning, RD, Le Beau, MM, et al. Acute myeloid leukaemia with recurrent genetic abnormalities. In: Swerdlow, SH, Campo, E, Harris, NL, et al., eds. WHO classification of tumours of haematopoietic and lymphoid tissues, rev. 4th ed. Lyon, France: IARC Press; 2017:130–49.Google Scholar
Speck, NA, Gilliland, DG. Core-binding factors in haematopoiesis and leukaemia. Nat Rev Cancer. 2002;2:502–13.Google Scholar
Raimondi, SC, Chang, MN, Ravindranath, Y, et al. Chromosomal abnormalities in 478 children with acute myeloid leukemia: clinical characteristics and treatment outcome in a cooperative pediatric oncology group study-POC8821. Blood. 1999;94:3707–16.Google Scholar
Rubnitz, JE, Raimondi, SC, Halbert, AR, et al. Characteristics and outcome of t(8;21)-positive childhood acute myeloid leukemia: a single institution’s experience. Leukemia. 2002;16;2072–7.Google Scholar
Tallman, MS, Hakimian, D, Shaw, JM, et al. Granulocytic sarcoma is associated with the 8;21 translocation in acute myeloid leukemia. J Clin Oncol. 1993;11:690–7.Google Scholar
Johnson, RC, Savage, NM, Chiang, T, et al. Hidden mastocytosis in acute myeloid leukemia with t(8;21)(q22;q22). Am J Clin Pathol. 2013;140:525–35.Google Scholar
Forestier, E and Schmiegelow, K. The incidence peaks of the childhood acute leukemias reflect specific cytogenetic aberrations. J Pediatr Hematol Oncol. 2006;28:486–95.Google Scholar
Liu, P, Tarle, SA, Hajra, et al. Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. Science. 1993;261: 1041–4.CrossRefGoogle Scholar
Gregory, J, Feusner, J. Acute promyelocytic leukemia in childhood. Curr Oncol Rep. 2009;11:439–45.CrossRefGoogle ScholarPubMed
Zhou, Yi, Jorgensen, JL, Wang, SA, et al. Usefulness of CD11a and CD18 in flow cytometric immunophenotypic analysis for diagnosis of acute promyelocytic leukemia. Am J Clin Pathol. 2012;138:744–50.Google Scholar
Stein, E, Tallman, MS. Acute promyelocytic leukemia in children and adolescents. Acta Haematol. 2014;132:307–12.Google Scholar
Rubnitz, JE, Raimondi, SC, Tong, X, et al. Favorable impact of the t(9;11) in childhood acute myeloid leukemia. J Clin Oncol. 2002;20:2302–9.Google Scholar
Elzamly, S, Chavali, S, Tonk, V, et al. Acute myeloid leukemia with KMT2A-SEPT5 translocation: A case report and review of the literature. SAGE Open Med Case Rep. 2018;6:15.Google Scholar
Shih, LY, Liang, DC, Fu, JF, et al. Characterization of fusion partner genes in 114 patients with de novo acute myeloid leukemia and MLL rearrangement. Leukemia. 2006;20:218–23.Google Scholar
Sandahl, JD, Coenen, EA, Forestier, E, et al. t(6;9)(p22;q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients. Haematologica. 2014;99:865–72.Google Scholar
Rogers, HJ, His, ED. Myeloid neoplasms with inv(3)(q21q26.2) or t(3;3)(q21;q26.2). Surg Pathol. 2013;6:677–92.Google Scholar
Maseti, R, Guidi, V, Ronchini, L, et al. The changing scenario of non-Down syndrome acute megakaryoblastic leukemia in children. Crit Rev Oncol Hematol. 2019;138:132–8.Google Scholar
Bernstein, J, Dastugue, N, Haas, OA, et al. Nineteen cases of the t(1;22)(p13;q13) acute megakaryoblastic leukaemia of infants/children and a review of 39 cases: report from a t(1;22) study group. Leukemia. 2000;14:216–8.Google Scholar
Coenen, EA, Zwaan, CM, Reinhardt, D, et al. Pediatric acute myeloid leukemia with t(8;16)(p11;p13), a distinct clinical and biological entity: a collaborative study by the International-Berlin-Frankfurt-Münster AML-study group. Blood. 2013;122:2704–13.Google Scholar
Haferlach, T, Kohlmann, A, Klein, HU, et al. AML with translocation t(8;16)(p11;p13) demonstrates unique cytomorphological, cytogenetic, molecular and prognostic features. Leukemia. 2009;23:934–43.Google Scholar
Dempsey, N, Khushmann, M, Hosein, P, et al. Acute myeloid leukemia with translocation (8;16)(p11;p13): a distinct syndrome – case report and literature review. Oncol Cancer Case Rep. 2017;3:2.Google Scholar
Braoudaki, M, Papathanassiou, C, Katsibardi, K, et al. The frequency of NPM1 mutations in childhood acute myeloid leukemia. J Hematol Oncol. 2010;3:41.Google Scholar
Falini, B, Martelli, MP, Bolli, N, et al. Immunohistochemistry predicts nucleophosmin (NPM) mutations in acute myeloid leukemia. Blood. 2006;108:19992005.Google Scholar
Kansal, R. Classification of acute myeloid leukemia by the revised fourth edition World Health Organization criteria: a retrospective single-institution study with appraisal of the new entities of acute myeloid leukemia with gene mutations in NPM1 and biallelic CEBPA. Hum Pathol. 2019;90:8096.CrossRefGoogle ScholarPubMed
Bacher, U, Schnittger, S, Macijewski, K, et al. Multilineage dysplasia does not influence prognosis in CEBPA-mutated AML, supporting the WHO proposal to classify these patients as a unique entity. Blood. 2012;119:4719–22.Google Scholar
Gaidzik, VI, Teleanu, V, Papaemmanuil, E. RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features. Leukemia. 2016;30:2160–8.Google Scholar
Arber, DA, Brunning, RD, Orazi, A, et al. Acute myeloid leukaemia with myelodysplasia-related changes. In: Swerdlow, SH, Campo, E, Harris, NL, et al., eds. WHO classification of tumours of haematopoietic and lymphoid tissues, rev. 4th ed. Lyon, France: IARC Press; 2017:150–2.Google Scholar
Koenig, KL, Sahasrabudhe, KD, Sigmund, AM, et al. AML with myelodysplasia-related changes: development, challenges, and treatment advances. Genes. 2020;11:845–57.Google Scholar
Arber, DA, Erba, HP. Diagnosis and treatment of patients with acute myeloid leukemia with myelodysplasia-related changes (AML-MRC). Am J Clin Pathol. 2020;154:731–41.Google Scholar
Vardiman, JW, Arber, DA, Brunning, RD, et al. Therapy-related myeloid neoplasms. In: Swerdlow, SH, Campo, E, Harris, NL, et al., eds. WHO classification of tumours of haematopoietic and lymphoid tissues, rev. 4th ed. Lyon, France: IARC Press; 2017:153–5.Google Scholar
Wang, SA. Myelodysplastic syndromes and therapy-related myeloid neoplasms. In: Proytcheva, MA, ed. Diagnostic pediatric hematopathology. Cambridge, UK: Cambridge University Press; 2011:253–71.Google Scholar
Harada, H, Harada, Y, Tanaka, H, et al. Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia. Blood. 2003;101:673–80.Google Scholar
Pileri, SA, Orazi, A, Faomo, B. Myeloid sarcoma. In: Swerdlow, SH, Campo, E, Harris, NL, et al., eds. WHO classification of tumours of haematopoietic and lymphoid tissues, rev. 4th ed. Lyon, France: IARC Press; 2017:167–8.Google Scholar
Samborska, M, Derwich, K, Skalska-Sadowska, J, et al. Myeloid sarcoma in children – diagnostic and therapeutic difficulties. Contemp Oncol (Pozn). 2016;20:444–8.Google Scholar
Bhatnagar, N, Nizery, L, Tunstall, O, et al. Transient abnormal myelopoiesis and AML in Down syndrome: an update. Curr Hematol Malig Rep. 2016;11:333–41.Google Scholar
Arber, DA, Baumann, I, Niemeyer, CM, et al. Myeloid proliferations associated with Down syndrome. In: Swerdlow, SH, Campo, E, Harris, NL et al., eds. WHO classification of tumours of haematopoietic and lymphoid tissues, rev. 4th ed. Lyon, France: IARC Press; 2017:169–71.Google Scholar
Gamis, AS, Alonzo, TA, Gerbing, RB, et al. Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children’s Oncology Group Study A2971. Blood. 2011;118:6752–9.Google Scholar
Choi, JK. Hematologic abnormalities in individuals with Down syndrome. In: Proytcheva, MA, ed. Diagnostic pediatric hematopathology. Cambridge, UK: Cambridge University Press; 2011:310–22.Google Scholar
Roy, A, Cowan, G, Mead, AJ, et al. Perturbation of fetal liver hematopoietic stem and progenitor cell development by trisomy 21. Proc Natl Acad Sci USA. 2012;109:17579–84.Google Scholar
Brink, DS. Transient leukemia (transient myeloproliferative disorder, transient abnormal myelopoiesis) of Down syndrome. Adv Anat Pathol. 2006;13:256–62.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
×