Familial myelodysplastic syndromes: A review of the literature

Haematologica

Volumn 96, Issue 10, 2011, Pages 1536-1542

  Liew, Elena ^a   Owen, Carolyn ^a  

^a UNIVERSITY OF CALGARY   (Canada)

Author keywords

Donor; Familial; Myelodysplastic syndromes; Platelet disorder; Transplantation

Indexed keywords

TELOMERASE;

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LYMPHOBLASTIC LEUKEMIA; AGE; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ANAMNESIS; ARTICLE; BLEEDING; CANCER RISK; CHROMOSOME DELETION; CHROMOSOME DELETION 21Q22; CLINICAL FEATURE; FAMILY; GENE; GENE MUTATION; GENETIC PREDISPOSITION; HETEROZYGOTE; HUMAN; INCIDENCE; MALIGNANT TRANSFORMATION; MONOSOMY 7; MYELODYSPLASTIC SYNDROME; PATHOGENESIS; RUNX1 GENE; THROMBOCYTOPENIA;

BLOOD PLATELET DISORDERS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 7; CORE BINDING FACTOR ALPHA 2 SUBUNIT; FAMILY HEALTH; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; LEUKEMIA, MYELOID, ACUTE; MYELODYSPLASTIC SYNDROMES; TELOMERE;

EID: 80053646494     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2011.043422     Document Type: Article

References (57)

1. Ma X, Does M, Raza A, Mayne ST. Myelodysplastic syndromes: incidence and survival in the United States. Cancer. 2007;109(8):1536-42.
2. Rollison DE, Howlader N, Smith MT, Strom SS, Merritt WD, Ries LA, et al. Epidemiology of myelodysplastic syndromes and chronic myeloproliferative disorders in the United States, 2001-2004, using data from the NAACCR and SEER programs. Blood. 2008;112(1):45-52.
3. Bejar R, Levine R, Ebert BL. Unraveling the molecular pathophysiology of myelodysplastic syndromes. J Clin Oncol. 2011;29(5): 504-15.
4. Tefferi A, Vardiman JW. Myelodysplastic syndromes. N Engl J Med. 2009;361(19): 1872-85.
5. Larson RA, Wang Y, Banerjee M, Wiemels J, Hartford C, Beau MML, et al. Prevalence of the Inactivating 609C→T Polymorphism in the NAD(P)H:Quinone Oxidoreductase (NQO1) Gene in Patients With Primary and Therapy-Related Myeloid Leukemia. Blood. 1999;94(2):803-7.
6. Alter BP. Diagnosis, Genetics, and Management of Inherited Bone Marrow Failure Syndromes. Hematology. 2007;2007 (1):29-39.
7. D'Orazio JA. Inherited cancer syndromes in children and young adults. J Pediatr Hematol Oncol. 2010;32(3):195-228.
8. Luddy RE, Champion LA, Schwartz AD. A fatal myeloproliferative syndrome in a family with thrombocytopenia and platelet dysfunction. Cancer. 1978;41(5):1959-63.
9. Dowton SB, Beardsley D, Jamison D, Blattner S, Li FP. Studies of a familial platelet disorder. Blood. 1985;65(3):557-63.
10. Heller PG, Glembotsky AC, Gandhi MJ, Cummings CL, Pirola CJ, Marta RF, et al. Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. Blood. 2005;105(12):4664-70.
11. Jalagadugula G, Mao G, Kaur G, Goldfinger LE, Dhanasekaran DN, Rao AK. Regulation of platelet myosin light chain (MYL9) by RUNX1: implications for thrombocytopenia and platelet dysfunction in RUNX1 haplodeficiency. Blood. 2010;116(26):6037-45.
12. Sun L, Mao G, Rao AK. Association of CBFA2 mutation with decreased platelet PKC-theta and impaired receptor-mediated activation of GPIIb-IIIa and pleckstrin phosphorylation: proteins regulated by CBFA2 play a role in GPIIb-IIIa activation. Blood. 2004;103(3):948-54.
13. Aneja K, Jalagadugula GS, Mao G, Rao AK. Mechanism of Platelet Factor (PF4) Deficiency with RUNX1 Mutations: RUNX1 Is a Transcriptional Regulator of PF4. ASH Annual Meeting Abstracts. 2009;114(22):227.
14. Gerrard JM, Israels ED, Bishop AJ, Schroeder ML, Beattie LL, McNicol A, et al. Inherited platelet-storage pool deficiency associated with a high incidence of acute myeloid leukaemia. Br J Haematol. 1991;79 (2):246-55.
15. Walker LC, Stevens J, Campbell H, Corbett R, Spearing R, Heaton D, et al. A novelinherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia. Br J Haematol. 2002;117(4):878-81.
16. Ganly P, Walker LC, Morris CM. Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia. Leuk Lymphoma. 2004;45(1):1-10.
17. Owen CJ, Toze CL, Koochin A, Forrest DL, Smith CA, Stevens JM, et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood. 2008;112(12):4639-45.
18. Preudhomme C, Renneville A, Bourdon V, Philippe N, Roche-Lestienne C, Boissel N, et al. High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. Blood. 2009;113(22):5583-7.
19. Nishimoto N, Imai Y, Ueda K, Nakagawa M, Shinohara A, Ichikawa M, et al. T cell acute lymphoblastic leukemia arising from familial platelet disorder. Int J Hematol. 2010;92(1):194-7.
20. Ho CY, Otterud B, Legare RD, Varvil T, Saxena R, DeHart DB, et al. Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2. Blood. 1996;87 (12):5218-24.
21. Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet. 1999;23(2):166-75.
22. Asou N. The role of a Runt domain transcription factor AML1/RUNX1 in leukemogenesis and its clinical implications. Crit Rev Oncol Hematol. 2003;45(2):129-50.
23. Jongmans MC, Kuiper RP, Carmichael CL, Wilkins EJ, Dors N, Carmagnac A, et al. Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. Leukemia. 2010;24(1):242-6.
24. Legare RD, Lu D, Gallagher M, Ho C, Tan X, Barker G, et al. CBFA2, frequently rearranged in leukemia, is not responsible for a familial leukemia syndrome. Leukemia. 1997;11(12):2111-9.
25. Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N, et al. 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. 2002;99(4):1364-72.
26. Matheny CJ, Speck ME, Cushing PR, Zhou Y, Corpora T, Regan M, et al. Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. EMBO J. 2007;26(4):1163-75.
27. Lorsbach RB, Moore J, Ang SO, Sun W, Lenny N, Downing JR. Role of RUNX1 in adult hematopoiesis: analysis of RUNX1-IRES-GFP knock-in mice reveals differential lineage expression. Blood. 2004;103(7): 2522-9.
28. Huret JL, Léonard C, Chery M, Philippe C, Schafei-Benaissa E, Lefaure G, et al. Monosomy 21q: two cases of del(21q) and review of the literature. Clinical Genetics. 1995;48(3):140-7.
29. Huret JL, Léonard C. Chromosome 21 and platelets: a gene dosage effect? Clinical Genetics. 1997;51(2):140-1.
30. Beri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P, Roth V, et al. Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. Eur J Hum Genet. 2008;16(8):1014-8.
31. Shinawi M, Erez A, Shardy DL, Lee B, Naeem R, Weissenberger G, et al. Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q. Blood. 2008;112(4):1042-7.
32. Fujita H, Torii C, Kosaki R, Yamaguchi S, Kudoh J, Hayashi K, et al. Microdeletion of the Down syndrome critical region at 21q22. Am J Med Genet A. 2010;152A(4): 950-3.
33. van der Crabben S, van Binsbergen E, Ausems M, Poot M, Bierings M, Buijs A. Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation. Leukemia Research. 2010;34(1):e8-e12.
34. Katzaki E, Morin G, Pollazzon M, Papa FT, Buoni S, Hayek J, et al. Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients. Am J Med Genet A. 2010;152A(7): 1711-7.
35. Thevenon J, Callier P, Thauvin-Robinet C, Mejean N, Falcon-Eicher S, Maynadie M, et al. De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection. Am J Med Genet A. 2011;155(1):126-9.
36. Byrd RS, Zwerdling T, Moghaddam B, Pinter JD, Steinfeld MB. Monosomy21q22.11- q22.13 presenting as a Fanconi anemia phenotype. Am J Med Genet A. 2011;155(1):120-5.
37. Lindstrand A, Malmgren H, Sahlen S, Schoumans J, Nordgren A, Ergander U, et al. Detailed molecular and clinical characterization of three patients with 21q deletions. Clin Genet. 2010;77(2):145-54.
38. Calin GA, Croce CM. Chronic lymphocytic leukemia: interplay between noncoding RNAs and protein-coding genes. Blood. 2009;114(23):4761-70.
39. Shay JW, Bacchetti S. A survey of telomerase activity in human cancer. European Journal of Cancer. 1997;33(5):787-91.
40. Walne AJ, Dokal I. Advances in the understanding of dyskeratosis congenita. Br J Haematol. 2009;145(2):164-72.
41. Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in dyskeratosis congenita. Blood. 2009;113(26):6549-57.
42. Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature. 2001;413(6854):432-5.
43. Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA. 2005;102(44): 15960-4.
44. Yamaguchi H, Baerlocher GM, Lansdorp PM, Chanock SJ, Nunez O, Sloand E, et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood. 2003; 102(3):916-8.
45. Ortmann CA, Niemeyer CM, Wawer A, Ebell W, Baumann I, Kratz CP. TERC mutations in children with refractory cytopenia. Haematologica. 2006;91(5):707-8.
46. Marrone A, Sokhal P, Walne A, Beswick R, Kirwan M, Killick S, et al. Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. Haematologica. 2007;92(8):1013-20.
47. Kirwan M, Vulliamy T, Marrone A, Walne AJ, Beswick R, Hillmen P, et al. Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. Hum Mutat. 2009;30 (11):1567-73.
48. Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenital due to mutations in TERC. Nat Genet. 2004;36(5):447-9.
49. Gaitonde S, Boumendjel R, Angeles R, Rondelli D. Familial childhood monosomy 7 and associated myelodysplasia. J Pediatr Hematol Oncol. 2010;32(6):e236-7.
50. Hasle H, Alonzo TA, Auvrignon A, Behar C, Chang M, Creutzig U, et al. Monosomy 7 and deletion 7q in children and adolescents with acute myeloid leukemia: an international retrospective study. Blood. 2007;109(11):4641-7.
51. Luna-Fineman S, Shannon K, Lange B. Childhood monosomy 7: epidemiology, biology, and mechanistic implications. Blood. 1995;85(8):1985-99.
52. Shannon KM, Turhan AG, Chang SS, Bowcock AM, Rogers PC, Carroll WL, et al. Familial bone marrow monosomy 7. Evidence that the predisposing locus is not on the long arm of chromosome 7. J Clin Invest. 1989;84(3):984-9.
53. Shannon KM, Turhan AG, Rogers PC, Kan YW. Evidence implicating heterozygous deletion of chromosome 7 in the pathogenesis of familial leukemia associated with monosomy 7. Genomics. 1992;14(1):121-5.
54. Minelli A, Maserati E, Giudici G, Tosi S, Olivieri C, Bonvini L, et al. Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene. Cancer Genetics and Cytogenetics. 2001;124(2):147-51.
55. Buijs A, Poddighe P, van Wijk R, van Solinge W, Borst E, Verdonck L, et al. A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. Blood. 2001;98(9):2856-8.
56. Fogarty PF, Yamaguchi H, Wiestner A, Baerlocher GM, Sloand E, Zeng WS, et al. Late presentation of dyskeratosis congenital as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Lancet. 2003;362(9396):1628-30.
57. Scott HS, Hahn CN, Carmichael CL, Wilkins EJ, Chong C-E, Brautigan PJ, et al. GATA2 is a New Predisposition Gene for Familial Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML). ASH Annual Meeting Abstracts. 2010;116(21): LBA-3.