The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes

Haematologica

Volumn 100, Issue 5, 2015, Pages 633-642

  Cada, Michaela ^a   Segbefia, Catherin I ^a   Klaassen, Robert ^b   Fernandez, Conrad V ^c   Yanofsky, Rochelle A ^d   Wu, John ^e   Pastore, Yves ^f   Silva, Mariana ^g   Lipton, Jeffrey H ^h   Brossard, Josee ⁱ   Michon, Bruno ^j   Abish, Sharon ^k   Steele, Macgregor ^l   Sinha, Roona ^m   Belletrutti, Mark ⁿ   Breakey, Vicky ^o   Jardine, Lawrence ^p   Goodyear, Lisa ^q   Sung, Lillian ^r   Shago, Mary ^r   Beyene, Joseph ^s   Sharma, Preeti ^a   Zlateska, Bozana ^a   Dror, Yigal ^a   more..

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c IWK HEALTH CENTRE   (Canada)

^d CANCERCARE MANITOBA   (Canada)

^e BC CHILDREN S HOSPITAL   (Canada)

^f UNIVERSITY OF MONTREAL   (Canada)

^g QUEEN S UNIVERSITY   (Canada)

^h PRINCESS MARGARET HOSPITAL   (Canada)

ⁱ CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

^j LAVAL UNIVERSITY   (Canada)

^k MONTREAL CHILDREN S HOSPITAL   (Canada)

^l ALBERTA CHILDREN'S HOSPITAL   (Canada)

^m UNIVERSITY OF SASKATCHEWAN   (Canada)

ⁿ UNIVERSITY OF ALBERTA   (Canada)

^o MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^p CHILDREN S HOSPITAL OF WESTERN ONTARIO   (Canada)

^q New Janeway Childrens Health and Rehabilitation Centre   (Canada)

^r HOSPITAL FOR SICK CHILDREN   (Canada)

^s MCMASTER UNIVERSITY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE MYELOBLASTIC LEUKEMIA; ADULT; ARTICLE; BLEEDING; BONE MARROW DEPRESSION; CHROMOSOME 7Q; CLINICAL ARTICLE; CYTOGENETICS; CYTOPATHOLOGY; FANCONI ANEMIA; FEMALE; HUMAN; INFECTION; MALE; MORTALITY; MYELODYSPLASTIC SYNDROME; OVERALL SURVIVAL; REFRACTORY CYTOPENIA WITH MULTILINEAGE DYSPLASIA; SHWACHMAN SYNDROME; ADOLESCENT; BONE MARROW; CANADA; CELL TRANSFORMATION; CHILD; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLONAL EVOLUTION; DISEASE COURSE; GENETICS; HEMOGLOBINURIA, PAROXYSMAL; INFANT; KAPLAN MEIER METHOD; LEUKEMIA, MYELOID, ACUTE; NEWBORN; OUTCOME ASSESSMENT; PATHOLOGY; PRESCHOOL CHILD; PROGNOSIS; REGISTER; RISK; YOUNG ADULT;

ADOLESCENT; ADULT; BONE MARROW; CANADA; CELL TRANSFORMATION, NEOPLASTIC; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CLONAL EVOLUTION; CYTOGENETIC ANALYSIS; DISEASE PROGRESSION; HEMOGLOBINURIA, PAROXYSMAL; HUMANS; INFANT; INFANT, NEWBORN; KAPLAN-MEIER ESTIMATE; LEUKEMIA, MYELOID, ACUTE; PATIENT OUTCOME ASSESSMENT; PROGNOSIS; REGISTRIES; RISK; YOUNG ADULT;

EID: 84929164787     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2014.117457     Document Type: Article

References (42)

1. Dror Y, Durie P, Ginzberg H, et al. Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study. Exp Hematol. 2002;30(7):659-669.
2. Göhring G, Karow A, Steinemann D, et al. Chromosomal aberrations in congenital bone marrow failure disorders-an early indicator for leukemogenesis? Ann Hematol. 2007;86 (10):733-739.
3. Tonnies H, Huber S, Kuhl JS, et al. Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor. Blood. 2003;101(10):3872-3874.
4. Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in dyskeratosis congenita. Blood. 2009;113(26):6549-6557.
5. Rosenberg PS, Alter BP, Ebell W. Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica. 2008;93(4):511-517.
6. Dokal I, Vulliamy T. Inherited aplastic anaemias/bone marrow failure syndromes. Blood Rev. 2008;22(3):141-153.
7. Niemeyer CM, Baumann I. Myelodysplastic syndrome in children and adolescents. Semin Hematol. 2008;45(1):60-70.
8. Butturini A, Gale RP, Verlander PC, et al. Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study. Blood. 1994;84(5):1650-1655.
9. Aul C, Giagounidis A, Germing U, Ganser A. Evaluating the prognosis of patients with myelodysplastic syndromes. Ann Hematol. 2002;81(9):485-497.
10. Locatelli F, Zecca M, Pession A, et al. Myelodysplastic syndromes: the pediatric point of view. Haematologica. 1995;80(3): 268-279.
11. Mandel K, Dror Y, Poon A, Freedman MH. A practical, comprehensive classification for pediatric myelodysplastic syndromes: the CCC system. J Pediatr Hematol Oncol. 2002;24(7):596-605.
12. 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.
13. Teo JT, Klaassen R, Fernandez CV, et al. Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes. Pediatrics. 2008;122(1):e139-148.
14. Tsangaris E, Klaassen R, Fernandez CV, et al. Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. J Med Genet. 2011;48(9):618-628.
15. Germing U, Aul C, Niemeyer CM, Haas R, Bennett JM. Epidemiology, classification and prognosis of adults and children with myelodysplastic syndromes. Ann Hematol. 2008;87(9):691-699.
16. Cantu Rajnoldi A, Fenu S, Kerndrup G, et al. Evaluation of dysplastic features in myelodysplastic syndromes: experience from the morphology group of the European Working Group of MDS in Childhood (EWOG-MDS). Ann Hematol. 2005;84(7): 429-433.
17. Ma X, Does M, Raza A, Mayne ST. Myelodysplastic syndromes: incidence and survival in the United States. Cancer. 2007;109(8):1536-1542.
18. Aul C, Giagounidis A, Germing U. Epidemiological features of myelodysplastic syndromes: results from regional cancer surveys and hospital-based statistics. Int J Hematol. 2001;73(4):405-410.
19. Gologan R, Georgescu D, Tatic A, Radulescu I, Vasilache D. Epidemiological data from the registry of patients with myelodysplastic syndrome in a single hospital center of Romania. Leuk Res. 2009;33(11):1556-1561.
20. Kuendgen A, Matsuda A, Germing U. Differences in epidemiology of MDS between Western and Eastern countries: Ethnic differences or environmental influence? Leuk Res. 2007;31(1):103-104.
21. Hashmi SK, Allen C, Klaassen R, et al. Comparative analysis of Shwachman- Diamond syndrome to other inherited bone marrow failure syndromes and genotypephenotype correlation. Clin Genet. 2011;79 (5):448-458.
22. Kutler DI, Singh B, Satagopan J, et al. A 20- year perspective on the International Fanconi Anemia Registry (IFAR). Blood. 2003;101 (4):1249-1256.
23. Alter BP, Caruso JP, Drachtman RA, et al. Fanconi anemia: myelodysplasia as a predictor of outcome. Cancer Genet Cytogenet. 2000;117(2):125-131.
24. Alter BP, Giri N, Savage SA, et al. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol. 2010;150(2):179-188.
25. Dror Y, Donadieu J, Koglmeier J, et al. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann NY Acad Sci. 2011;1242:40-55.
26. Maserati E, Minelli A, Pressato B, et al. Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. Genes Chromosomes Cancer. 2006;45(4):375-382.
27. Valli R, Pressato B, Marletta C, et al. Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms. Mol Cytogenet. 2013;6(1):56.
28. Sasaki H, Manabe A, Kojima S, et al. Myelodysplastic syndrome in childhood: a retrospective study of 189 patients in Japan. Leukemia. 2001;15(11):1713-1720.
29. Garcia-Manero G, Shan J, Faderl S, et al. A prognostic score for patients with lower risk myelodysplastic syndrome. Leukemia. 2008;22(3):538-543.
30. Greenberg P, Cox C, LeBeau MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89(6):2079-2088.
31. Wang H, Wang X, Xu X, Lin G. Cytogenetic features and prognosis analysis in Chinese patients with myelodysplastic syndrome: a multicenter study. Ann Hematol. 2010;89(6): 535-544.
32. Parlier V, van Melle G, Beris P, et al. Hematologic, clinical, and cytogenetic analysis in 109 patients with primary myelodysplastic syndrome. Prognostic significance of morphology and chromosome findings. Cancer Genet Cytogenet. 1994;78(2):219-231.
33. Billstrom R, Thiede T, Hansen S, et al. Bone marrow karyotype and prognosis in primary myelodysplastic syndromes. Eur J Haematol. 1988;41(4):341-346.
34. Hasle H, Baumann I, Bergstrasser E, et al. The International Prognostic Scoring System (IPSS) for childhood myelodysplastic syndrome (MDS) and juvenile myelomonocytic leukemia (JMML). Leukemia. 2004;18(12): 2008-2014.
35. Wang H, Wang XQ, Xu XP, Lin GW. Cytogenetic evolution correlates with poor prognosis in myelodysplastic syndrome. Cancer Genet Cytogenet. 2010;196(2):159-166.
36. Cunningham J, Sales M, Pearce A, et al. Does isochromosome 7q mandate bone marrow transplant in children with Shwachman- Diamond syndrome? Br J Haematol. 2002;119(4):1062-1069.
37. Minelli A, Maserati E, Nicolis E, et al. The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome. Leukemia. 2009;23(4):708-711.
38. Pressato B, Valli R, Marletta C, et al. Deletion of chromosome 20 in bone marrow of patients with Shwachman- Diamond syndrome, loss of the EIF6 gene and benign prognosis. Br J Haematol. 2012;157(4):503-505.
39. Baumann I, Niemeyer CM, Bennett JM, International Agency for Research on Cancer. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue, Childhood myelodysplastic syndrome. World Health Organization, Geneva, Switzerland: Swerdlow S, Campo E, Harris NL (eds), 2008.
40. Niemeyer CM, Baumann I. Classification of childhood aplastic anemia and myelodysplastic syndrome. Hematology Am Soc Hematol Educ Program. 2011:84-89.
41. Vardiman JW, Thiele J, Arber DA, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009;114(5):937-951.
42. Huijgens PC, van der Veen EA, Meijer S, Muntinghe OG. Syndrome of Shwachman and leukaemia. Scand J Haematol. 1977; 18(1):20-24.