Familial myelodysplastic syndrome/acute leukemia syndromes: A review and utility for translational investigations

Annals of the New York Academy of Sciences

Volumn 1310, Issue 1, 2014, Pages 111-118

  West, Allison H ^a   Godley, Lucy A ^a   Churpek, Jane E ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

CEBPA; Familial; GATA2; Leukemia; Myelodysplastic syndrome; RUNX1

Indexed keywords

CCAAT ENHANCER BINDING PROTEIN ALPHA; TRANSCRIPTION FACTOR GATA 2;

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LEUKEMIA; ARTICLE; BONE MARROW DEPRESSION; CANCER SCREENING; CANCER SUSCEPTIBILITY; FAMILIAL DISEASE; FAMILIAL MYELODYSPLASTIC SYNDROME; GENE MUTATION; GENETIC COUNSELING; GENETIC PREDISPOSITION; GENETIC SCREENING; HUMAN; MYELODYSPLASTIC SYNDROME; TELOMERE; THROMBOCYTE DISORDER; TRANSLATIONAL RESEARCH;

CEBPA; FAMILIAL; GATA2; LEUKEMIA; MYELODYSPLASTIC SYNDROME; RUNX1;

GENETIC PREDISPOSITION TO DISEASE; HUMANS; LEUKEMIA, MYELOID, ACUTE; MUTATION; MYELODYSPLASTIC SYNDROMES; TRANSLATIONAL MEDICAL RESEARCH;

EID: 84896274551     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1111/nyas.12346     Document Type: Article

References (50)

1. Nishimoto, N. et al. 2010. T cell acute lymphoblastic leukemia arising from familial platelet disorder. Int. J. Hematol. 92: 194-197.
2. Stelljes, M. et al. 2011. Allogeneic stem cell transplant to eliminate germline mutations in the gene for CCAAT-enhancer-binding protein alpha from hematopoietic cells in a family with AML. Leukemia 25: 1209-1210.
3. Mutsaers, P.G. et al. 2013. Highly variable clinical manifestations in a large family with a novel GATA2 mutation. Leukemia 27: 2247-2248.
4. Hahn, C.N. et al. 2011. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat. Genet. 43: 1012-1017.
5. Liew, E. & C. Owen. 2011. Familial myelodysplastic syndromes: a review of the literature. Haematologica 96: 1536-1542.
6. Kirwan, M. et al. 2009. Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. Hum. Mutat. 30: 1567-1573.
7. Alter, B.P. 2007. Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematology Am. Soc. Hematol. Educ. Program 2007: 29-39.
8. Kee, Y. & A.D. D'Andrea. 2012. Molecular pathogenesis and clinical management of Fanconi anemia. J. Clin. Invest. 122: 3799-3806.
9. Dokal, I. & T. Vulliamy. 2010. Inherited bone marrow failure syndromes. Haematologica 95: 1236-1240.
10. Rosenberg, P.S., B.P. Alter & W. Ebell. 2008. Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica 93: 511-517.
11. Ballew, B.J. & S.A. Savage. 2013. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev. Hematol. 6: 327-337.
12. Ballew, B.J. et al. 2013. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Hum. Genet. 132: 473-480.
13. Heiss, N.S. et al. 1998. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat. Genet. 19: 32-38.
14. Nickels, E.M. et al. 2013. Recognizing familial myeloid leukemia in adults. Ther. Adv. Hematol. 4: 254-269.
15. Churpek, J.E. et al. 2013. 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.
16. Young, N.S. 2012. Bone marrow failure and the new telomere diseases: practice and research. Hematology 17(Suppl. 1): S18-S21.
17. Armanios, M. 2009. Syndromes of telomere shortening. Annu. Rev. Genomics Hum. Genet. 10: 45-61.
18. Fogarty, P.F. et al. 2003. Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Lancet 362: 1628-1630.
19. Churpek, J.E. et al. 2012. Identifying familial myelodysplastic/acute leukemia predisposition syndromes through hematopoietic stem cell transplantation donors with thrombocytopenia. Blood 120: 5247-5249.
20. Armanios, M. et al. 2005. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc. Natl. Acad. Sci. U. S. A. 102: 15960-15964.
21. Smith, M.L. et al. 2004. Mutation of CEBPA in familial acute myeloid leukemia. N. Engl. J. Med. 351: 2403-2407.
22. Owen, C., M. Barnett & J. Fitzgibbon. 2008. Familial myelodysplasia and acute myeloid leukaemia-a review. Br. J. Haematol. 140: 123-132.
23. Taskesen, E. et al. 2011. 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 117: 2469-2475.
24. Pabst, T. & B.U. Mueller. 2009. Complexity of CEBPA dysregulation in human acute myeloid leukemia. Clin. Cancer Res. 15: 5303-5307.
25. Pabst, T. et al. 2008. Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. J. Clin. Oncol. 26: 5088-5093.
26. Green, C.L. et al. 2013. GATA2 mutations in sporadic and familial acute myeloid leukaemia patients with CEBPA mutations. Br. J. Haematol. 161: 701-705.
27. Wouters, B.J. et al. 2009. Double CEBPA mutations, but not single CEBPA mutations, define a subgroup of acute myeloid leukemia with a distinctive gene expression profile that is uniquely associated with a favorable outcome. Blood 113: 3088-3091.
28. Ostergaard, P. et al. 2011. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat. Genet. 43: 929-931.
29. Dickinson, R.E. et al. 2011. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 118: 2656-2658.
30. Hsu, A.P. et al. 2011. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood 118: 2653-2655.
31. Pasquet, M. et al. 2013. High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood 121: 822-829.
32. Rodrigues, N.P. et al. 2005. Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis. Blood 106: 477-484.
33. Tsai, F.Y. et al. 1994. An early haematopoietic defect in mice lacking the transcription factor GATA-2. Nature 371: 221-226.
34. Kazenwadel, J. et al. 2012. Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood 119: 1283-1291.
35. Hyde, R.K. & P.P. Liu. 2011. GATA2 mutations lead to MDS and AML. Nat. Genet. 43: 926-927.
36. Holme, H. et al. 2012. Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia. Br. J. Haematol. 158: 242-248.
37. Bödör, C. et al. 2012. Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival. Haematologica 97: 890-894.
38. Cuellar-Rodriguez, J. et al. 2011. Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency. Blood 118: 3715-3720.
39. Song, W.J. et al. 1999. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat. Genet. 23: 166-175.
40. Churpek, J.E. et al. 2010. Identification and molecular characterization of a novel 3′; mutation in RUNX1 in a family with familial platelet disorder. Leuk. Lymphoma. 51: 1931-1935.
41. Buijs, A. et al. 2012. Elucidation of a novel pathogenomic mechanism using genome-wide long mate-pair sequencing of a congenital t(16;21) in a series of three RUNX1-mutated FPD/AML pedigrees. Leukemia 26: 2151-2154.
42. Michaud, J. et al. 2002. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood 99: 1364-1372.
43. Preudhomme, C. et al. 2009. High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. Blood 113: 5583-5587.
44. Shiba, N. et al. 2012. CBL mutation in chronic myelomonocytic leukemia secondary to familial platelet disorder with propensity to develop acute myeloid leukemia (FPD/AML). Blood 119: 2612-2614.
45. Prebet, T. et al. 2013. Concomitant germ-line RUNX1 and acquired ASXL1 mutations in a T-cell acute lymphoblastic leukemia. Eur. J. Haematol. 91: 277-279.
46. Mendler, J.H. et al. 2012. RUNX1 mutations are associated with poor outcome in younger and older patients with cytogenetically normal acute myeloid leukemia and with distinct gene and MicroRNA expression signatures. J. Clin. Oncol. 30: 3109-3118.
47. Kirwan, M. et al. 2012. Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. Am. J. Hum. Genet. 90: 888-892.
48. Galili, N. et al. 2012. Identification of Dido1 mutation associated with familial myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML). In Proceedings of the 54th ASH Annual Meeting and Exposition (Abstract 169). Atlanta, Georgia.
49. Pippucci, T. et al. 2011. Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am. J. Hum. Genet. 88: 115-120.
50. Noris, P. et al. 2011. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 117: 6673-6680.