Genetic predisposition to hematologic malignancies: Management and surveillance

Blood

Volumn 130, Issue 4, 2017, Pages 424-432

  Godley, Lucy A ^a,b   Shimamura, Akiko ^c  

^a SECTION OF HEMATOLOGY ONCOLOGY   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLOGENEIC STEM CELL TRANSPLANTATION; BONE MARROW BIOPSY; CANCER GROWTH; CONSENSUS; CONSULTATION; CYTOGENETICS; GENETIC COUNSELING; GENETIC PREDISPOSITION; HEMATOLOGIC MALIGNANCY; HUMAN; LEUKEMIA; MOLECULAR GENETICS; PATIENT REFERRAL; PRACTICE GUIDELINE; PRIORITY JOURNAL; REVIEW; GENETICS; HEMATOLOGIC NEOPLASMS;

GENETIC PREDISPOSITION TO DISEASE; HEMATOLOGIC NEOPLASMS; HUMANS; LEUKEMIA;

EID: 85026325303     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2017-02-735290     Document Type: Review

References (59)

1. Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391-2405.
2. Zhang MY, Keel SB, Walsh T, et al. Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Haematologica. 2015;100(1):42-48.
3. Ghemlas I, Li H, Zlateska B, et al. Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. J Med Genet. 2015;52(9):575-584.
4. Muramatsu H, Okuno Y, Yoshida K, et al. Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes [published online ahead of print 19 January 2017]. Genet Med. doi:10.1038/gim.2016.197.
5. Furutani E, Shimamura A. Germline genetic predisposition to hematologic malignancy. J Clin Oncol. 2017;35(9):1018-1028.
6. Shimamura A. Aplastic anemia and clonal evolution: germ line and somatic genetics. Hematology Am Soc Hematol Educ Program. 2016;2016:74-82.
7. Fanconi Anemia Research Fund I. Fanconi anemia: guidelines for diagnosis and management. 4th ed. 2014. http://fanconi.org/images/ uploads/other/FA_Guidelines_4th_Edition_ Revised_Names_in_Appendix.pdf.
8. Vlachos A, Ball S, Dahl N, et al; Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008;142(6):859-876.
9. Dror Y, Donadieu J, Koglmeier J, et al. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci. 2011;1242:40-55.
10. Savage SA, Cook EF. Dyskeratosis congenita and telomere biology disorders: diagnosis and management guidelines. 2015. https://www.dcoutreach.org/sites/default/files/DC%20% 26%20TBD%20Diagnosis%20And% 20Management%20Guidelines.pdf.
11. Churpek JE, Godley LA. How I diagnose and manage individuals at risk for inherited myeloid malignancies. Blood. 2016;128(14):1800-1813.
12. Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev. 2010;24(3):101-122.
13. Myers KC, Davies SM, Shimamura A. Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. Hematol Oncol Clin North Am. 2013;27(1):117-128, ix.
14. Feurstein S, Drazer MW, Godley LA. Genetic predisposition to leukemia and other hematologic malignancies. Semin Oncol. 2016;43(5):598-608.
15. Mamrak NE, Shimamura A and Howlett NG. Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. Blood Rev. 2016;31(3):93-99.
16. Narumi S, Amano N, Ishii T, et al. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet. 2016;48(7): 792-797.
17. Chen DH, Below JE, Shimamura A, et al. Ataxia-pancytopenia syndrome is caused by missense mutations in SAMD9L. Am J Hum Genet. 2016; 98(6):1146-1158.
18. Zhang MY, Churpek JE, Keel SB, et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 2015;47(2): 180-185.
19. Poggi M, Canault M, Favier M, et al. Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD341 progenitors. Haematologica. 2017;102(2):282-294.
20. 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): 888-892.
21. Noetzli L, Lo RW, Lee-Sherick AB, et al. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet. 2015;47(5):535-538.
22. Topka S, Vijai J, Walsh MF, et al. Germline ETV6 mutations confer susceptibility to acute lymphoblastic leukemia and thrombocytopenia. PLoS Genet. 2015;11(6):e1005262.
23. Moriyama T, Metzger ML, Wu G, et al. Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. Lancet Oncol. 2015;16(16): 1659-1666.
24. Melazzini F, Palombo F, Balduini A, et al. Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica. 2016; 101(11):1333-1342.
25. Shah S, Schrader KA, Waanders E, et al. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. 2013;45(10):1226-1231.
26. Hyde RK, Liu PP. Germline PAX5 mutations and B cell leukemia. Nat Genet. 2013; 45(10):1104-1105.
27. Correa H. Li-Fraumeni Syndrome. J Pediatr Genet. 2016;5(2):84-88.
28. Valdez JM, Nichols KE, Kesserwan C. Li-Fraumeni syndrome: a paradigm for the understanding of hereditary cancer predisposition. Br J Haematol. 2017; 176(4):539-552.
29. Kamihara J, Rana HQ, Garber JE. Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome. Hum Mutat. 2014;35(6): 654-662.
30. Churchman ML, Quan M, Zhang R, et al. Germline genetic variation in IKZF1 and predisposition to childhood acute lymphoblastic leukemia. Blood. 2016;128:LBA-2.
31. Balmaña J, Digiovanni L, Gaddam P, et al. Conflicting interpretation of genetic variants and cancer risk by commercial laboratories as assessed by the prospective registry of multiplex testing. J Clin Oncol. 2016;34(34):4071-4078.
32. Landrum MJ, Lee JM, Benson M, et al. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res. 2016; 44(D1):D862-D868.
33. Churpek JE, Lorenz R, Nedumgottil S, et al. Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes. Leuk Lymphoma. 2013;54(1):28-35.
34. Babushok DV, Bessler M, Olson TS. Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults. Leuk Lymphoma. 2016;57(3):520-536.
35. DiNardo CD, Bannon SA, Routbort M, et al. Evaluation of patients and families with concern for predispositions to hematologic malignancies within the hereditary hematologic malignancy clinic (HHMC). Clin Lymphoma Myeloma Leuk. 2016;16(7):417-428.
36. Giampietro PF, Verlander PC, Davis JG, Auerbach AD. Diagnosis of Fanconi anemia in patients without congenital malformations: an international Fanconi Anemia Registry Study. Am J Med Genet. 1997;68(1):58-61.
37. Keel SB, Scott A, Sanchez-Bonilla M, et al. Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. Haematologica. 2016;101(11): 1343-1350.
38. Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet. 2004;36(5): 447-449.
39. Armanios M, Chen JL, Chang YP, et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA. 2005;102(44):15960-15964.
40. Marrone A, Walne A, Dokal I. Dyskeratosis congenita: telomerase, telomeres and anticipation. Curr Opin Genet Dev. 2005; 15(3):249-257.
41. Rumi E, Passamonti F, Della Porta MG, et al. Familial chronic myeloproliferative disorders: clinical phenotype and evidence of disease anticipation. J Clin Oncol. 2007;25(35): 5630-5635.
42. Tegg EM, Thomson RJ, Stankovich JM, et al. Anticipation in familial hematologic malignancies. Blood. 2011;117(4):1308-1310.
43. Villani A, Shore A, Wasserman JD, et al. Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. Lancet Oncol. 2016;17(9): 1295-1305.
44. Ganapathi KA, Townsley DM, Hsu AP, et al. GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia. Blood. 2015;125(1):56-70.
45. Tönnies H, Huber S, Kuhl JS, Gerlach A, Ebell W, Neitzel H. Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor. Blood. 2003;101(10): 3872-3874.
46. Pressato B, Valli R, Marletta C, et al. Cytogenetic monitoring in Shwachman-Diamond syndrome: a note on clonal progression and a practical warning. J Pediatr Hematol Oncol. 2015; 37(4):307-310.
47. Finch AJ, Hilcenko C, Basse N, et al. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev. 2011;25(9):917-929.
48. Pressato B, Valli R, Marletta C, et al. Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis. Br J Haematol. 2012;157(4):503-505.
49. Welte K, Zeidler C. Severe congenital neutropenia. Hematol Oncol Clin North Am. 2009;23(2):307-320.
50. Link DC, Kunter G, Kasai Y, et al. Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. Blood. 2007;110(5):1648-1655.
51. Beekman R, Valkhof MG, Sanders MA, et al. Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia. Blood. 2012;119(22):5071-5077.
52. Touw IP. Game of clones: the genomic evolution of severe congenital neutropenia. Hematology Am Soc Hematol Educ Program. 2015;2015:1-7.
53. Germeshausen M, Ballmaier M, Welte K. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey. Blood. 2007;109(1):93-99.
54. Churpek JE, Pyrtel K, Kanchi KL, et al. Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. Blood. 2015;126(22):2484-2490.
55. Tawana K, Wang J, Renneville A, et al. Disease evolution and outcomes in familial AML with germline CEBPA mutations. Blood. 2015; 126(10):1214-1223.
56. Myers KC, Bolyard AA, Otto B, et al. Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. J Pediatr. 2014;164(4):866-870.
57. Savage SA, Bertuch AA. The genetics and clinical manifestations of telomere biology disorders. Genet Med. 2010;12(12):753-764.
58. Wlodarski MW, Hirabayashi S, Pastor V, et al; EWOG-MDS. Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood. 2016;127(11):1387-1397, quiz 1518.
59. Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD. The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry. Pediatrics. 1993;91(6): 1116-1120.