Germline genetic predisposition to hematologic malignancy

Journal of Clinical Oncology

Volumn 35, Issue 9, 2017, Pages 1018-1028

  Furutani, Elissa ^a   Shimamura, Akiko ^a  

^a DANA FARBER CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CANCER DIAGNOSIS; CLINICAL PRACTICE; DISEASE PREDISPOSITION; GENETIC SCREENING; GERMLINE MUTATION; HEMATOLOGIC MALIGNANCY; HUMAN; INHERITANCE; PRIORITY JOURNAL; REVIEW; GENETIC PREDISPOSITION; GENETICS; HEMATOLOGIC DISEASE; HIGH THROUGHPUT SEQUENCING; PROCEDURES;

GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HEMATOLOGIC NEOPLASMS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS;

EID: 85016249418     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2016.70.8644     Document Type: Review

References (61)

1. Malkin D, Garber JE, Strong LC, et al: CANCER. The cancer predisposition revolution. Science 352:1052-1053, 2016
2. Li FP, Fraumeni JF Jr: Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med 71:747-752, 1969
3. Churpek JE, Pyrtel K, Kanchi K-L, et al: Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. Blood 126:2484-2490, 2015
4. 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 110:1648-1655, 2007
5. Zhang J, Walsh MF, Wu G, et al: Germline mutations in predisposition genes in pediatric cancer. N Engl J Med 373:2336-2346, 2015
6. 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 16:417-428.e2, 2016
7. 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 54:28-35, 2013
8. Seif AE: Pediatric leukemia predisposition syndromes: Clues to understanding leukemogenesis. Cancer Genet 204:227-244, 2011
9. Churpek JE, Godley LA: How I diagnose and manage individuals at risk for inherited myeloid malignancies. Blood 128:1800-1813, 2016
10. Jongmans M C J, Loeffen J L C M, Waanders E, et al: Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool. Eur J Med Genet 59:116-125, 2016
11. Rojek K, Nickels E, Neistadt B, etal: Identifying inherited and acquired genetic factors involved in poor stem cell mobilization and donor-derived malignancy. Biol Blood MarrowTransplant 22:2100-2103, 2016
12. Alter BP: Fanconi anemia and the development of leukemia. Best Pract Res Clin Haematol 27:214-221, 2014
13. Rosenberg PS, Greene MH, Alter BP: Cancer incidence in persons with Fanconi anemia. Blood 101:822-826, 2003
14. Gatti R, Perlman S: Ataxia-telangiectasia.
15. de Miranda NF, Bjorkman A, Pan-Hammarstrom Q: DNA repair: The link between primary immunodeficiency and cancer. Ann N Y Acad Sci 1246:50-63, 2011
16. Gtadkowska-Dura M, Dzierzanowska-Fangrat K, Dura WT, etal: Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation. J Pathol 216:337-344, 2008
17. Sanz MM, German J, Cunniff C: Bloom's syndrome. https://www.ncbi.nlm.nih.gov/books/NBK1398
18. Ripperger T, Schlegelberger B: Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome. Eur J Med Genet 59:133-142, 2016
19. Vasen H F A, Ghorbanoghli Z, Bourdeaut F, et al: Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D). J Med Genet 51:283-293, 2014
20. Bannon SA, DiNardo CD: Hereditary predispositions to myelodysplastic syndrome. Int J Mol Sci 17:838, 2016
21. Ganly P, Walker LC, Morris CM: Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia. Leuk Lymphoma 45:1-10, 2004
22. Smith ML, Cavenagh JD, Lister TA, et al: Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med 351:2403-2407, 2004
23. Hahn CN, Chong C-E, Carmichael CL, et al: Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet 43:1012-1017, 2011
24. Ostergaard P, Simpson MA, Connell FC, et al: Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet 43:929-931, 2011
25. Hsu AP, McReynolds LJ, Holland SM: GATA2 deficiency. Curr Opin Allergy Clin Immunol 15:104-109, 2015
26. Spinner MA, Sanchez LA, Hsu AP, et al: GATA2 deficiency: A protean disorder of hematopoiesis, lymphatics, and immunity. Blood 123:809-821, 2014
27. Shah S, Schrader KA, Waanders E, et al: A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet 45:1226-1231, 2013
28. Zhang MY, Churpek JE, Keel SB, et al: Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet 47:180-185, 2015
29. Vlachos A, Muir E: How I treat Diamond-Blackfan anemia. Blood 116:3715-3723, 2010
30. Vlachos A, Ball S, Dahl N, et al: Diagnosing and treating Diamond Blackfan anaemia: Results of an international clinical consensus conference. Br J Haematol 142:859-876, 2008
31. Dror Y, Donadieu J, Koglmeier J, et al: Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci 1242:40-55, 2011
32. Myers KC, Davies SM, Shimamura A: Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: An update. Hematol Oncol Clin North Am 27:117-128, 2013
33. Savage SA, Bertuch AA: The genetics and clinical manifestations of telomere biology disorders. Genet Med 12:753-764, 2010
34. Savage SA, Cook EF (eds): Dyskeratosis congenita and telomere biology disorders: Diagnosis and management guidelines. https://www.dcoutreach.org/sites/default/files/DC%20%26%20TBD%20Diagnosis %20And%20Management%20Guidelines.pdf
35. Simon AJ, Lev A, Zhang Y, et al: Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects. J Exp Med 213:1429-1440, 2016
36. Stanley SE, Gable DL, Wagner CL, et al: Lossof-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema. Sci Transl Med 8:351ra107, 2016
37. Malkin D: Li-Fraumeni syndrome and p53 in 2015: Celebrating their silver anniversary. Clin Invest Med 39:E37-E47, 2016
38. Similuk M, Rao VK, Churpek J, et al: Predispositions to lymphoma: A practical review for genetic counselors. J Genet Couns 25:1157-1170, 2016
39. Kratz CP, Franke L, Peters H, et al: Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes. Br J Cancer 112:1392-1397, 2015
40. Muraoka M, Okuma C, Kanamitsu K, et al: Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy. J Hum Genet 61:523-526, 2016
41. Martinelli S, Stellacci E, Pannone L, et al: Molecular diversity and associated phenotypic spectrum of germline CBL mutations. Hum Mutat 36:787-796, 2015
42. van der Werff Ten Bosch J, van den Akker M: Genetic predisposition and hematopoietic malignancies in children: Primary immunodeficiency. Eur J Med Genet 59:647-653, 2016
43. Carlsson G, Fasth A, Berglöf E, et al: Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia. Br J Haematol 158:363-369, 2012
44. Rosenberg PS, Zeidler C, Bolyard AA, et al: Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. Br J Haematol 150:196-199, 2010
45. Boztug K, Klein C: Genetic etiologies of severe congenital neutropenia. Curr Opin Pediatr 23:21-26, 2011
46. Thrasher AJ: New insights into the biology of Wiskott-Aldrich syndrome (WAS). Hematology (Am Soc Hematol Educ Program) 2009:132-138, 2009
47. Sullivan KE, Mullen CA, Blaese RM, et al: A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr 125:876-885, 1994
48. 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 127:1017-1023, 2016
49. Polprasert C, Schulze I, Sekeres MA, et al: Inherited and somatic defects in DDX41 in myeloid neoplasms. Cancer Cell 27:658-670, 2015
50. Chen D-H, Below JE, Shimamura A, et al: Ataxia-pancytopenia syndrome is caused by missense mutations in SAMD9L. Am J Hum Genet 98:1146-1158, 2016
51. 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 90:888-892, 2012
52. Seminog OO, Goldacre MJ: Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: Populationbased record-linkage study. Br J Cancer 108:193-198, 2013
53. Malkin D, Nichols KE, Zelley K, et al: Predisposition to pediatric and hematologic cancers: A moving target. Am Soc Clin Oncol Educ Book 2014:e44-e55, 2014
54. Izraeli S, Vora A, Zwaan CM, et al: How I treat ALL in Down's syndrome: Pathobiology and management. Blood 123:35-40, 2014
55. Giampietro PF, Verlander PC, Davis JG, et al: Diagnosis of Fanconi anemia in patients without congenital malformations: An international Fanconi Anemia Registry Study. Am J Med Genet 68:58-61, 1997
56. Auerbach AD, Rogatko A, Schroeder-Kurth TM: International Fanconi Anemia Registry: Relation of clinical symptoms to diepoxybutane sensitivity. Blood 73:391-396, 1989
57. Zhang MY, Keel SB, Walsh T, et al: Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Haematologica 100:42-48, 2015
58. Keel SB, Scott A, Sanchez-Bonilla M, et al: Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. Haematologica 101:1343-1350, 2016
59. 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 52:575-584, 2015
60. Gross M, Hanenberg H, Lobitz S, et al: Reverse mosaicism in Fanconi anemia: Natural gene therapy via molecular self-correction. Cytogenet Genome Res 98:126-135, 2002
61. Jongmans M C J, Verwiel E T P, Heijdra Y, et al: Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. Am J Hum Genet 90:426-433, 2012