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Chapter 15 - Myeloid Neoplasms with Germline Predisposition

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
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Summary

Myelodysplastic syndromes (MDSs) and acute myeloid leukemias (AMLs), although most frequently occurring sporadically and in adult populations, have additionally been noted to occur in association with predisposing germline genetic abnormalities, with such cases commonly occurring in children and young adults. With the utilization of advanced diagnostic methodologies in clinical practice and the recognition of the significance of this set of conditions for clinical management, the spectrum of syndromic conditions has continued to expand in the medical literature.

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Publisher: Cambridge University Press
Print publication year: 2024

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References

Swerdlow, S, Campo, E, Harris, N, et al., eds. WHO classification of tumors of haematopoietic and lymphoid tissues. Rev. 4th ed. IARC Press; 2017.Google Scholar
Furutani, E, Shimamura, A. Genetic predisposition to MDS: diagnosis and management. Hematology Am Soc Hematol Educ Program. 2019;2019(1):110–9. doi: 10.1182/hematology.2019000021Google Scholar
Kennedy, AL, Shimamura, A. Genetic predisposition to MDS: clinical features and clonal evolution. Blood. 2019;133(10):1071–85. doi: 10.1182/blood-2018-10-844662Google Scholar
Smith, ML, Cavenagh, JD, Lister, TA, et al. Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med. 2004;351(23):2403–7. doi: 10.1056/NEJMoa041331Google Scholar
Polprasert, C, Schulze, I, Sekeres, MA, et al. Inherited and somatic defects in DDX41 in myeloid neoplasms. Cancer Cell. 2015;27(5):658–70. doi: 10.1016/j.ccell.2015.03.017Google Scholar
Lewinsohn, M, Brown, AL, Weinel, LM, et al. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. Blood. 2016;127(8):1017–23. doi: 10.1182/blood-2015-10-676098Google Scholar
Schlegelberger, B, Heller, PG. RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM). Semin Hematol. 2017;54(2):7580. doi: 10.1053/j.seminhematol.2017.04.006Google Scholar
Song, WJ, Sullivan, MG, Legare, RD, et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet. 1999;23(2):166–75. doi: 10.1038/13793Google Scholar
Walker, LC, Stevens, J, Campbell, H, et al. A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia. Br J Haematol. 2002;117(4):878–81. doi: 10.1046/j.1365-2141.2002.03512.xGoogle Scholar
Chisholm, KM, Denton, C, Keel, S, et al. Bone marrow morphology associated with germline. Pediatr Dev Pathol. 2019;22(4):315–28. doi: 10.1177/1093526618822108Google Scholar
Marquez, R, Hantel, A, Lorenz, R, et al. A new family with a germline ANKRD26 mutation and predisposition to myeloid malignancies. Leuk Lymphoma. 2014;55(12):2945–6. doi: 10.3109/10428194.2014.903476Google Scholar
Di Paola, J, Porter, CC. ETV6-related thrombocytopenia and leukemia predisposition. Blood. 2019;134(8):663–7. doi: 10.1182/blood.2019852418Google Scholar
Cioc, AM, Wagner, JE, MacMillan, ML, et al. Diagnosis of myelodysplastic syndrome among a cohort of 119 patients with Fanconi anemia: morphologic and cytogenetic characteristics. Am J Clin Pathol. 2010;133(1):92100. doi: 10.1309/AJCP7W9VMJENZOVGGoogle Scholar
Cunniff, C, Bassetti, JA, Ellis, NA. Bloom’s syndrome: clinical spectrum, molecular pathogenesis, and cancer predisposition. Mol Syndromol.2017;8(1):423. doi: 10.1159/000452082Google Scholar
Myers, KC, Furutani, E, Weller, E, et al. Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study. Lancet Haematol. 2020;7(3):e238–46. doi: 10.1016/S2352-3026(19)30206-6Google Scholar
Simkins, A, Bannon, SA, Khoury, JD, et al. Diamond-Blackfan anemia predisposing to myelodysplastic syndrome in early adulthood. JCO Precis Oncol. 2017;1:15. doi: 10.1016/S2352-3026(19)30206-6Google Scholar
Nagata, Y, Narumi, S, Guan, Y, et al. Germline loss-of-function. Blood. 2018;132(21):2309–13. doi: 10.1182/blood-2017-05-787390Google Scholar
Ripperger, T, Schlegelberger, B. Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome. Eur J Med Genet. 2016;59(3):133–42. doi: 10.1016/j.ejmg.2015.12.014Google Scholar
Kirwan, M, Walne, AJ, Plagnol, V, et al. Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. Am J Hum Genet. 2012;90(5):888–92. doi: 10.1016/j.ajhg.2012.03.020Google Scholar
Swaminathan, M, Bannon, SA, Routbort, M, et al. Hematologic malignancies and Li-Fraumeni syndrome. Cold Spring Harb Mol Case Stud. 2019;5(1):a003210. doi: 10.1101/mcs.a003210Google Scholar
Talwalkar, SS, Yin, CC, Naeem, RC, et al. Myelodysplastic syndromes arising in patients with germline TP53 mutation and Li-Fraumeni syndrome. Arch Pathol Lab Med. 2010;134(7):1010–5. doi: 10.5858/2009-0015-OA.1Google Scholar
Shabanova, I, Cohen, E, Cada, M, et al. ERCC6L2-associated inherited bone marrow failure syndrome. Mol Genet Genomic Med. 2018;6(3):463–8. doi: 10.1002/mgg3.388Google Scholar
Douglas, SPM, Siipola, P, Kovanen, PE, et al. ERCC6L2 defines a novel entity within inherited acute myeloid leukemia. Blood. 2019;133(25):2724–8. doi: 10.1182/blood-2019-01-896233Google Scholar
Ripperger, T, Hofmann, W, Koch, JC, et al.MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies. Haematologica. 2018;103(2):e55–8. doi: 10.3324/haematol.2017.178723Google Scholar
Rio-Machin, A, Vulliamy, T, Hug, N, et al. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. Nat Commun. 2020;11(1):1044. doi: 10.1038/s41467-020-14829-5Google Scholar

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