How I diagnose and manage individuals at risk for inherited myeloid malignancies

Blood

Volumn 128, Issue 14, 2016, Pages 1800-1813

  Churpek, Jane E ^a,b,c   Godley, Lucy A ^a,b,c  

^a SECTION OF HEMATOLOGY ONCOLOGY   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c UNIVERSITY HOSPITAL ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AZITHROMYCIN; BUSULFAN; IMMUNOGLOBULIN; INTERFERON; LENALIDOMIDE;

ACUTE MYELOBLASTIC LEUKEMIA; ADULT; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; BLOOD SMEAR; BONE MARROW BIOPSY; CANCER DIAGNOSIS; CANCER PATIENT; CANCER RESEARCH; CANCER RISK; CANCER TISSUE; CASE REPORT; CHROMOSOME ANALYSIS; CHRONIC MYELOMONOCYTIC LEUKEMIA; CLINICAL PRACTICE; FAMILIAL CANCER; FAMILY; FAMILY HISTORY; FEMALE; FEVER; GENETIC SCREENING; GERMLINE MUTATION; HEMATOLOGIC MALIGNANCY; HEREDITARY MYELOID MALIGNANCY SYNDROME; HUMAN; INHERITANCE; LEUKEMIA CELL; MALE; MIDDLE AGED; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; PETECHIA; PHYSICAL EXAMINATION; PHYSICIAN; POINT MUTATION; PRIORITY JOURNAL; TISSUE SECTION; BIOLOGICAL MODEL; GENETIC PREDISPOSITION; GENETICS; HEALTH CARE PLANNING; HEMATOLOGIC NEOPLASMS; RISK FACTOR;

ADULT; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERM-LINE MUTATION; HEALTH PLANNING GUIDELINES; HEMATOLOGIC NEOPLASMS; HUMANS; MALE; MIDDLE AGED; MODELS, BIOLOGICAL; RISK FACTORS;

EID: 84990913391     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2016-05-670240     Document Type: Article

References (89)

1. Gunz FW, Gunz JP, Veale AM, Chapman CJ, Houston IB. Familial leukaemia: A study of 909 families. Scand J Haematol. 1975;15(2):117-131.
2. Luddy RE, Champion LA, Schwartz AD. A fatal myeloproliferative syndrome in a family with thrombocytopenia and platelet dysfunction. Cancer. 1978;41(5):1959-1963.
3. Fanconi anemia: guidelines for diagnosis and management. 4th ed. Eugene, OR: Fanconi Anemia Research Fund, Inc; 2014. http://fanconi. org/index.php/publications/guidelines- for-diagnosis-and-management. Accessed 14 July 2016.
4. Nagy R, Sweet K, Eng C. Highly penetrant hereditary cancer syndromes. Oncogene. 2004; 23(38):6445-6470.
5. Uno H, Cronin AM, Wadleigh M, Schrag D, Abel GA. Derivation and validation of the SEER-Medicare myelodysplastic syndromes risk score (SMMRS). Leuk Res. 2014;38(12):1420-1424.
6. 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):166-175.
7. Smith ML, Cavenagh JD, Lister TA, Fitzgibbon J. Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med. 2004;351(23): 2403-2407.
8. Hahn CN, Chong CE, Carmichael CL, et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet. 2011;43(10): 1012-1017.
9. 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. 2011; 43(10):929-931.
10. Noris P, Perrotta S, Seri M, et al. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: Analysis of 78 patients from 21 families. Blood. 2011;117(24): 6673-6680.
11. Pippucci T, Savoia A, Perrotta S, et al. Mutations in the 59 UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet. 2011;88(1):115-120.
12. Saliba J, Saint-Martin C, Di Stefano A, et al. Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies. Nat Genet. 2015;47(10):1131-1140.
13. Polprasert C, Schulze I, Sekeres MA, et al. Inherited and somatic defects in DDX41 in myeloid neoplasms. Cancer Cell. 2015;27(5): 658-670.
14. 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):1017-1023.
15. Li R, Sobreira N, Witmer PD, Pratz KW, Braunstein EM. Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia. Haematologica. 2016;101(6):e228-e231.
16. Cardoso SR, Ryan G, Walne AJ, et al. Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia [published online ahead of print 20 May 2016]. Leukemia. doi:10.1038/leu.2016.124.
17. Zhang MY, Churpek JE, Keel SB, et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 2015;47(2): 180-185.
18. 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.
19. 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.
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. Dokal I, Vulliamy T. Inherited bone marrow failure syndromes. Haematologica. 2010;95(8): 1236-1240.
22. Holme H, Hossain U, Kirwan M, Walne A, Vulliamy T, Dokal I. Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia. Br J Haematol. 2012;158(2):242-248.
23. Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol. 2013;6(3):327-337.
24. Zhang J, Walsh MF, Wu G, et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med. 2015;373(24):2336-2346.
25. Churpek JE, Marquez R, Neistadt B, et al. Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia. Cancer. 2016;122(2):304-311.
26. Buijs A, Poddighe P, van Wijk R, et al. A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. Blood. 2001;98(9): 2856-2858.
27. Fogarty PF, Yamaguchi H, Wiestner A, et al. Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Lancet. 2003; 362(9396):1628-1630.
28. Owen CJ, Toze CL, Koochin A, et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood. 2008;112(12): 4639-4645.
29. Xiao H, Shi J, Luo Y, et al. First report of multiple CEBPA mutations contributing to donor origin of leukemia relapse after allogeneic hematopoietic stem cell transplantation. Blood. 2011;117(19): 5257-5260.
30. Liew E, Owen C. Familial myelodysplastic syndromes: A review of the literature. Haematologica. 2011;96(10):1536-1542.
31. Rojek K, Nickels E, Neistadt B, et al. Identifying inherited and acquired genetic factors involved in poor stem cell mobilization and donor-derived malignancy [published online ahead of print 4 August 2016]. Biol Blood Marrow Transplant. doi: 10.1016/j.bbmt.2016.08.002.
32. National Comprehensive Cancer Network. Genetic/Familial High Risk Assessment: Breast and Ovarian Cancer. Vol. 2016. Fort Washington, PA: National Comprehensive Cancer Network; 2016.
33. 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.
34. Gonzalez KD, Noltner Ka, Buzin CH, et al. Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 2009;27(8):1250-1256.
35. Bougeard G, Renaux-Petel M, Flaman JM, et al. Revisiting Li-Fraumeni Syndrome from TP53 Mutation Carriers. J Clin Oncol. 2015;33(21): 2345-2352.
36. Churpek JE, Godley LA. Familial Acute Leukemia and Myelodysplastic Syndromes. Post TW, ed. Waltham, MA: UpToDate, Inc. www.uptodate. com. Accessed 19 April 2016.
37. Churpek JE, Onel K. Heritability of hematologic malignancies: from pedigrees to genomics. Hematol Oncol Clin North Am. 2010;24(5): 939-972.
38. 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.
39. West AH, Godley LA, Churpek JE. Familial myelodysplastic syndrome/acute leukemia syndromes: A review and utility for translational investigations. Ann N Y Acad Sci. 2014;1310: 111-118.
40. 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.
41. Churpek JE, Artz A, Bishop M, Liu H, Godley LA. Correspondence regarding the consensus statement from the Worldwide Network for Blood and Marrow Transplantation Standing Committee on Donor Issues. Biol Blood Marrow Transplant. 2016;22(1):183-184.
42. Cilloni D, Gottardi E, Messa F, et al. Piedmont Study Group on Myleodysplastic Syndromes. Significant correlation between the degree of WT1 expression and the International Prognostic Scoring System Score in patients with myelodysplastic syndromes. J Clin Oncol. 2003; 21(10):1988-1995.
43. Bienz M, Ludwig M, Leibundgut EO, et al. Risk assessment in patients with acute myeloid leukemia and a normal karyotype. Clin Cancer Res. 2005;11(4):1416-1424.
44. Marcucci G, Maharry K, Whitman SP, et al; Cancer and Leukemia Group B Study. High expression levels of the ETS-related gene, ERG, predict adverse outcome and improve molecular risk-based classification of cytogenetically normal acute myeloid leukemia: A Cancer and Leukemia Group B Study. J Clin Oncol. 2007;25(22): 3337-3343.
45. Santamaria CM, Chillón MC, García-Sanz R, et al. Molecular stratification model for prognosis in cytogenetically normal acute myeloid leukemia. Blood. 2009;114(1):148-152.
46. Abbas S, Lugthart S, Kavelaars FG, et al. Acquired mutations in the genes encoding IDH1 and IDH2 both are recurrent aberrations in acute myeloid leukemia: Prevalence and prognostic value. Blood. 2010;116(12):2122-2126.
47. Green CL, Evans CM, Hills RK, Burnett AK, Linch DC, Gale RE. The prognostic significance of IDH1 mutations in younger adult patients with acute myeloid leukemia is dependent on FLT3/ ITD status. Blood. 2010;116(15):2779-2782.
48. Paschka P, Schlenk RF, Gaidzik VI, et al. IDH1 and IDH2 mutations are frequent genetic alterations in acute myeloid leukemia and confer adverse prognosis in cytogenetically normal acute myeloid leukemia with NPM1 mutation without FLT3 internal tandem duplication. J Clin Oncol. 2010;28(22):3636-3643.
49. Schnittger S, Haferlach C, Ulke M, Alpermann T, Kern W, Haferlach T. IDH1 mutations are detected in 6.6% of 1414 AML patients and are associated with intermediate risk karyotype and unfavorable prognosis in adults younger than 60 years and unmutated NPM1 status. Blood. 2010; 116(25):5486-5496.
50. Schwind S, Marcucci G, Maharry K, et al. BAALC and ERG expression levels are associated with outcome and distinct gene and microRNA expression profiles in older patients with de novo cytogenetically normal acute myeloid leukemia: A Cancer and Leukemia Group B study. Blood. 2010;116(25):5660-5669.
51. Wagner K, Damm F, Göhring G, et al. Impact of IDH1 R132 mutations and an IDH1 single nucleotide polymorphism in cytogenetically normal acute myeloid leukemia: SNP rs11554137 is an adverse prognostic factor. J Clin Oncol. 2010;28(14):2356-2364.
52. Bejar R, Stevenson K, Abdel-Wahab O, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med. 2011; 364(26):2496-2506.
53. Damm F, Chesnais V, Nagata Y, et al. BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders. Blood. 2013; 122(18):3169-3177.
54. Bejar R, Stevenson KE, Caughey B, et al. Somatic mutations predict poor outcome in patients with myelodysplastic syndrome after hematopoietic stem-cell transplantation. J Clin Oncol. 2014;32(25):2691-2698.
55. Pabst T, Eyholzer M, Haefliger S, Schardt J, Mueller BU. Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. J Clin Oncol. 2008;26(31):5088-5093.
56. Taskesen E, Bullinger L, Corbacioglu A, et al. Prognostic impact, concurrent genetic mutations, and gene expression features of AML with CEBPA mutations in a cohort of 1182 cytogenetically normal AML patients: further evidence for CEBPA double mutant AML as a distinctive disease entity. Blood. 2011;117(8): 2469-2475.
57. Knight Johnson AE, Guidugli L, Arndt K, et al. Identification of genetic hereditary predisposition to hematologic malignancies by clinical nextgeneration sequencing [abstract]. Blood. 2015;126(23). Abstract 3854.
58. 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.
59. Tung N, Battelli C, Allen B, et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer. 2015;121(1):25-33.
60. 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.
61. Rotunno M, McMaster ML, Boland J, et al. Whole exome sequencing in families at high risk for Hodgkin lymphoma: identification of a predisposing mutation in the KDR gene. Haematologica. 2016;101(7):853-860.
62. Mutsaers PG, van de Loosdrecht AA, Tawana K, et al. Highly variable clinical manifestations in a large family with a novel GATA2 mutation. Leukemia. 2013;27(11):2247-2248.
63. The University of Chicago. Genetic Services Laboratories. http://dnatesting.uchicago.edu. Accessed July 14, 2016.
64. University of Washington Department of Laboratory Medicine. Genetics and Solid Tumor Diagnostic Testing. http://depts.washington.edu/ labweb/Divisions/MolDiag/MolDiagGen/index. htm. Accessed 14 July 2016.
65. Robson ME, Storm CD, Weitzel J, et al. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility J Clin Oncol. 2010;28(5):893-901.
66. 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.e2.
67. Jaiswal S, Fontanillas P, Flannick J, et al. Agerelated clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014;371(26): 2488-2498.
68. Genovese G, Kahler AK, Handsaker RE, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. NEJM. 2014; 371(26):2477-2487.
69. Schwartz MD, Valdimarsdottir HB, Peshkin BN, et al. Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer. J Clin Oncol. 2014; 32(7):618-626.
70. Kinney AY, Butler KM, Schwartz MD, et al. Expanding access to BRCA1/2 genetic counseling with telephone delivery: A cluster randomized trial. J Natl Cancer Inst. 2014; 106(12).
71. Villani A, Tabori U, Schiffman J, et al. Biochemical and imaging surveillance in germline TP53 mutation carriers with Li- Fraumeni syndrome: A prospective observational study. Lancet Oncol. 2011;12(6):559-567.
72. Savage SA, Cook EF, eds. Dyskeratosis Congenita and Telomere Biology Disorders: Diagnosis and Management Guidelines. 1st ed. New York, NY: Dyskeratosis Congenita Outreach, Inc; 2015. https://www.dcoutreach.org/sites/ default/files/DC%20%26%20TBD% 20Diagnosis %20And%20Management%20Guidelines.pdf. Accessed 14 July, 2016.
73. Dror Y, Freedman MH, Leaker M, et al. Lowintensity hematopoietic stem-cell transplantation across human leucocyte antigen barriers in dyskeratosis congenita. Bone Marrow Transplant. 2003;31(10):847-850.
74. de la Fuente J, Dokal I. Dyskeratosis congenita: Advances in the understanding of the telomerase defect and the role of stem cell transplantation. Pediatr Transplant. 2007;11(6):584-594.
75. Dietz AC, Orchard PJ, Baker KS, et al. Diseasespecific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita. Bone Marrow Transplant. 2011;46(1):98-104.
76. Spinner MA, Sanchez LA, Hsu AP, et al. GATA2 deficiency: A protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014;123(6): 809-821.
77. Al-Rahawan MM, Giri N, Alter BP. Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita. Int J Hematol. 2006;83(3):275-276.
78. Nickels EM, Soodalter J, Churpek JE, Godley LA. Recognizing familial myeloid leukemia in adults. Ther Adv Hematol. 2013;4(4):254-269.
79. Sorrell AD, Espenschied CR, Culver JO, Weitzel JN. Tumor protein p53 (TP53) testing and Li-Fraumeni syndrome: Current status of clinical applications and future directions. Mol Diagn Ther. 2013;17(1):31-47.
80. Bluteau D, Balduini A, Balayn N, et al. Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation. J Clin Invest. 2014;124(2): 580-591.
81. Connelly JP, Kwon EM, Gao Y, et al. Targeted correction of RUNX1 mutation in FPD patient specific induced pluripotent stem cells rescues megakaryopoietic defects. Blood. 2014;124(12): 1926-1930.
82. Townsley DM, Dumitriu B, Young NS. Bone marrow failure and the telomeropathies. Blood. 2014;124(18):2775-2783.
83. Townsley DM, Dumitriu B, Liu D, et al. Danazol treatment for telomere diseases. N Engl J Med. 2016;374(20):1922-1931.
84. Saida S, Umeda K, Yasumi T, et al. Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS. Pediatr Transplant. 2016;20(2): 333-336.
85. Lu KH, Wood ME, Daniels M, et al. American Society of Clinical Oncology Expert Statement: Collection and use of a cancer family history for oncology providers. J Clin Oncol. 2014;32(8): 833-840.
86. Pabst T, Mueller BU, Zhang P, et al. Dominantnegative mutations of CEBPA, encoding CCAAT/ enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia. Nat Genet. 2001;27(3): 263-270.
87. Her J, Chung IK. The AAA-ATPase NVL2 is a telomerase component essential for holoenzyme assembly. Biochem Biophys Res Commun. 2012; 417(3):1086-1092.
88. Lee KG, Kim SS, Kui L, et al. Bruton's tyrosine kinase phosphorylates DDX41 and activates its binding of dsDNA and STING to initiate type 1 interferon response. Cell Rep. 2015;10(7): 1055-1065.
89. Nagai K, Oubridge C, Kuglstatter A, et al. Structure, function, and evolution of the signal recognition particle. EMBO J. 2003;22(14): 3479-3485.