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Chapter 20 - Germline Predisposition to Lymphoid Neoplasm

from Section IV - Precursor Hematopoietic Neoplasms and Related Neoplasms

Published online by Cambridge University Press:  25 November 2023

By
Katherine R. Calvo ,
Nisha Patel ,
Alina Dulau-Florea  and
Kristian T. Schafernak
Edited by
Silvia Tse Bunting ,
Xiayuan Liang ,
Michele E. Paessler  and
Satheesh Chonat
Silvia Tse Bunting
Affiliation:
Cleveland Clinic Florida Weston
Xiayuan Liang
Affiliation:
University of Colorado
Michele E. Paessler
Affiliation:
University of Pennsylvania School of Medicine
Satheesh Chonat
Affiliation:
Emory University, Atlanta
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Summary

While the number of germline mutations known to confer predisposition to myeloid malignancy has gained broad recognition, there is also increasing awareness of genes predisposing to lymphoid neoplasia. This chapter addresses select genes associated with germline predisposition to lymphoid neoplasms. Genes covered in this chapter are associated with familial B-lymphoblastic leukemia (B-ALL) [1], general cancer predisposition syndromes, and primary immunodeficiency syndromes (PID) (Table 20.1). Individuals with PID are predisposed to lymphoproliferations as a result of complex interactions between germline genetic defects, viral oncogenes, impaired immunosurveillance, and chronic antigen stimulation [2]. Of note, many of the B-cell lymphoproliferations that occur in the setting of a PID show frequent Epstein-Barr virus (EBV) positivity and tendency to involve extranodal sites.

Type
Chapter
Information
Atlas of Pediatric Hematopathology , pp. 230 - 246
Publisher: Cambridge University Press
Print publication year: 2023

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References

Kratz, CP, Stanulla, M, Cavé, H. Genetic predisposition to acute lymphoblastic leukemia: Overview on behalf of the I-BFM ALL Host Genetic Variation Working Group. Eur J Med Genet. 2016; 59(3): 111–15.CrossRefGoogle Scholar
Tran, H, Nourse, J, Hall, S, Green, M, Griffiths, L, Gandhi, MK. Immunodeficiency-associated lymphomas. Blood Rev. 2008; 22(5): 261–81.CrossRefGoogle ScholarPubMed
Shah, S, Schrader, KA, Waanders, E, Timms, AE, Vijai, J, Miething, C, et al. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. 2013; 45(10): 1226–31.CrossRefGoogle ScholarPubMed
Churchman, ML, Qian, M, Te Kronnie, G, Zhang, R, Yang, W, Zhang, H, et al. Germline genetic IKZF1 variation and predisposition to childhood acute lymphoblastic leukemia. Cancer Cell. 2018; 33(5): 937–48.CrossRefGoogle ScholarPubMed
Hock, H, Shimamura, A. ETV6 in hematopoiesis and leukemia predisposition. Semin Hematol. 2017; 54(2): 98–104.CrossRefGoogle ScholarPubMed
Rampersaud, E, Ziegler, DS, Iacobucci, I, Payne-Turner, D, Churchman, ML, Schrader, KA, et al. Germline deletion of ETV6 in familial acute lymphoblastic leukemia. Blood Adv. 2019; 3(7): 1039–46.CrossRefGoogle ScholarPubMed
Noetzli, L, Lo, RW, Lee-Sherick, AB, Callaghan, M, Noris, P, Savoia, A, et al. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet. 2015; 47(5): 535–8.CrossRefGoogle ScholarPubMed
Valdez, JM, Nichols, KE, Kesserwan, C. Li-Fraumeni syndrome: A paradigm for the understanding of hereditary cancer predisposition. Br J Haematol. 2017; 176(4): 539–52.CrossRefGoogle ScholarPubMed
Comeaux, EQ, Mullighan, CG. TP53 mutations in hypodiploid acute lymphoblastic leukemia. Cold Spring Harb Perspect Med. 2017; 7(3): a026286.CrossRefGoogle ScholarPubMed
Brown, AL, de Smith, AJ, Gant, VU, Yang, W, Scheurer, ME, Walsh, KM, et al. Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome. Blood. 2019; 134(15): 1227–37.CrossRefGoogle ScholarPubMed
Lim, MS, Straus, SE, Dale, JK, Fleisher, TA, Stetler-Stevenson, M, Strober, W, et al. Pathological findings in human autoimmune lymphoproliferative syndrome. Am J Pathol. 1998; 153(5): 1541–50.CrossRefGoogle ScholarPubMed
Xie, Y, Pittaluga, S, Price, S, Raffeld, M, Hahn, J, Jaffe, ES, et al. Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation. Haematologica. 2017; 102(2): 364–72.CrossRefGoogle ScholarPubMed
Lucas, CL, Chandra, A, Nejentsev, S, Condliffe, AM, Okkenhaug, K. PI3Kδ and primary immunodeficiencies. Nat Rev Immunol. 2016; 16(11): 702–14.CrossRefGoogle ScholarPubMed
Dulau Florea, AE, Braylan, RC, Schafernak, KT, Williams, KW, Daub, J, Goyal, RK, et al. Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3 CD. J Allergy Clin Immunol. 2017; 139(3): 1032–5.e6.CrossRefGoogle Scholar
Kuehn, HS, Ouyang, W, Lo, B, Deenick, EK, Niemela, JE, Avery, DT, et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. 2014; 345(6204): 1623–7.CrossRefGoogle ScholarPubMed
Lo, B, Fritz, JM, Su, HC, Uzel, G, Jordan, MB, Lenardo, MJ. CHAI and LATAIE: New genetic diseases of CTLA-4 checkpoint insufficiency. Blood. 2016; 128(8): 1037–42.CrossRefGoogle ScholarPubMed
Niehues, T, Perez-Becker, R, Schuetz, C. More than just SCID: The phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2. Clin Immunol. 2010; 135(2): 183–92.CrossRefGoogle Scholar
Riaz, IB, Faridi, W, Patnaik, MM, Abraham, RS. A systematic review on predisposition to lymphoid (B and T cell) neoplasias in patients with primary immunodeficiencies and immune dysregulatory disorders (inborn errors of immunity). Front Immunol. 2019; 10: 777.CrossRefGoogle Scholar
Coffey, AJ, Brooksbank, RA, Brandau, O, Oohashi, T, Howell, GR, Bye, JM, et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet. 1998; 20(2): 129–35.CrossRefGoogle Scholar
Gaspar, HB, Sharifi, R, Gilmour, KC, Thrasher, AJ. X-linked lymphoproliferative disease: Clinical, diagnostic and molecular perspective. Br J Haematol. 2002; 119(3): 585–95.CrossRefGoogle ScholarPubMed
Pachlopnik Schmid, J, Canioni, D, Moshous, D, Touzot, F, Mahlaoui, N, Hauck, F, et al. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood. 2011; 117(5): 1522–9.Google ScholarPubMed
Amirifar, P, Ranjouri, MR, Yazdani, R, Abolhassani, H, Aghamohammadi A. Ataxia-telangiectasia: A review of clinical features and molecular pathology. Pediatr Allergy Immunol. 2019; 30(3): 277–88.CrossRefGoogle ScholarPubMed
Suarez, F, Mahlaoui, N, Canioni, D, Andriamanga, C, Dubois d’Enghien, C, Brousse, N, et al. Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: A report from the French national registry of primary immune deficiencies. J Clin Oncol. 2015; 33(2): 202–8.CrossRefGoogle Scholar
Buchbinder, D, Nugent, DJ, Fillipovich, AH. Wiskott-Aldrich syndrome: Diagnosis, current management, and emerging treatments. Appl Clin Genet. 2014; 7: 55–66.CrossRefGoogle ScholarPubMed
Cotelingam, JD, Witebsky, FG, Hsu, SM, Blaese, RM, Jaffe, ES. Malignant lymphoma in patients with the Wiskott-Aldrich syndrome. Cancer Invest. 1985; 3(6): 515–22.CrossRefGoogle ScholarPubMed

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