Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

Haematologica

Volumn 101, Issue 11, 2016, Pages 1343-1350

  Keel, Siobán B ^a   Scott, Angela ^b,c,d   Bonilla, Marilyn Sanchez ^e   Ho, Phoenix A ^b,c,d   Gulsuner, Suleyman ^d   Pritchard, Colin C ^a   Abkowitz, Janis L ^a   King, Mary Claire ^d   Walsh, Tom ^d   Shimamura, Akiko ^e  

^a UNIVERSITY OF WASHINGTON   (United States)

^b Fred Hutchinson Cancer Research Center   (United States)

^c SEATTLE CHILDREN S HOSPITAL   (United States)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOPHOSPHAMIDE; DYSKERIN; ERYTHROPOIETIN; FANCONI ANEMIA GROUP A PROTEIN; FLUDARABINE; GRANULOCYTE COLONY STIMULATING FACTOR; PROTEIN P53; TELOMERASE REVERSE TRANSCRIPTASE; THYMOCYTE ANTIBODY; TRANSCRIPTION FACTOR GATA 2; TRANSCRIPTION FACTOR RUNX1; RUNX1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; APLASTIC ANEMIA; ARTICLE; BONE MARROW DEPRESSION; BONE MARROW TRANSPLANTATION; CANCER MORTALITY; CHILD; DYSKERATOSIS CONGENITA; FAMILIAL CANCER; FANCONI ANEMIA; FEMALE; FLOW CYTOMETRY; GASTROINTESTINAL ENDOSCOPY; GENE MUTATION; GENETIC SCREENING; HLA MATCHING; HUMAN; HUMAN TISSUE; IMMUNOSUPPRESSIVE TREATMENT; MAJOR CLINICAL STUDY; MALE; MYELODYSPLASTIC SYNDROME; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PRESCHOOL CHILD; RELAPSE; SCHOOL CHILD; SHWACHMAN SYNDROME; THROMBOCYTOPENIA; DNA SEQUENCE; FAMILY; GENETICS; GERMLINE MUTATION; INFANT; MUTATION; YOUNG ADULT;

ADOLESCENT; ADULT; ANEMIA, APLASTIC; CHILD; CHILD, PRESCHOOL; CORE BINDING FACTOR ALPHA 2 SUBUNIT; FAMILY; FEMALE; GENETIC TESTING; GERM-LINE MUTATION; HUMANS; INFANT; MALE; MUTATION; MYELODYSPLASTIC SYNDROMES; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84994631337     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2016.149476     Document Type: Article

References (29)

1. Hirabayashi S, Flotho C, Moetter J, et al. Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML. Blood. 2012; 119 (11): e96-99.
2. Hasle H, Niemeyer CM, Chessells JM, et al. A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative diseases. Leukemia. 2003; 17 (2): 277-282.
3. Niemeyer CM, Baumann I. Classification of childhood aplastic anemia and myelodysplastic syndrome. Hematology Am Soc Hematol Educ Program. 2011; 2011: 84-89.
4. Young NS, Calado RT, Scheinberg P. Current concepts in the pathophysiology and treatment of aplastic anemia. Blood. 2006; 108 (8): 2509-2519.
5. Yamaguchi H, Calado RT, Ly H, et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med. 2005; 352 (14): 1413-1424.
6. Yamaguchi H, Baerlocher GM, Lansdorp PM, et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood. 2003; 102 (3): 916-918.
7. Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev. 2010; 24 (3): 101-122.
8. Alter BP, Elghetany MT. The CCC system: is it really the answer to pediatric MDS?. J Pediatr Hematol Oncol. 2003; 25 (5): 426-427; author reply 427-428.
9. Gadalla SM, Sales-Bonfim C, Carreras J, et al. Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita. Biol Blood Marrow Transplant. 2013; 19 (8): 1238-1243.
10. Gluckman E, Devergie A, Schaison G, et al. Bone marrow transplantation in Fanconi anaemia. Br J Haematol. 1980; 45 (4): 557-564.
11. 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.
12. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009; 25 (14): 1754-1760.
13. Gulsuner S, Walsh T, Watts AC, et al. Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell. 2013; 154 (3): 518-529.
14. Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics. 2011; 12: 184.
15. Walsh T, Lee MK, Casadei S, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci USA. 2010; 107 (28): 12629-12633.
16. Walsh T, Casadei S, Lee MK, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci USA. 2011; 108 (44): 18032-18037.
17. Shimamura A, Montes de Oca R, Svenson JL, et al. A novel diagnostic screen for defects in the Fanconi anemia pathway. Blood. 2002; 100 (13): 4649-4654.
18. Kuribayashi K, Matsunaga T, Sakai T, et al. A patient with TP53 germline mutation developed Bowen’s disease and myelodysplastic syndrome with myelofibrosis after chemotherapy against ovarian cancer. Intern Med. 2005; 44 (5): 490-495.
19. Felix CA, Hosler MR, Provisor D, et al. The p53 gene in pediatric therapy-related leukemia and myelodysplasia. Blood. 1996; 87 (10): 4376-4381.
20. Anensen N, Skavland J, Stapnes C, et al. Acute myelogenous leukemia in a patient with Li-Fraumeni syndrome treated with valproic acid, theophyllamine and all-trans retinoic acid: a case report. Leukemia. 2006; 20 (4): 734-736.
21. Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in dyskeratosis congenita. Blood. 2009; 113 (26): 6549-6557.
22. Tang JL, Hou HA, Chen CY, et al. AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and interaction with other gene alterations. Blood. 2009; 114 (26): 5352-5361.
23. 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.
24. Field JJ, Mason PJ, An P, et al. Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. J Pediatr Hematol Oncol. 2006; 28 (7): 450-453.
25. Wlodarski MW, Hirabayashi S, Pastor V, et al. Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood. 2016; 127 (11): 1387-1397.
26. 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.
27. 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.
28. Scheinberg P, Cooper JN, Sloand EM, Wu CO, Calado RT, Young NS. Association of telomere length of peripheral blood leukocytes with hematopoietic relapse, malignant transformation, and survival in severe aplastic anemia. JAMA. 2010; 304 (12): 1358-1364.
29. Du HY, Pumbo E, Manley P, et al. Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Blood. 2008; 111 (3): 1128-1130.