Whole-exome sequencing in del(5q) myelodysplastic syndromes in transformation to acute myeloid leukemia

Leukemia

Volumn 28, Issue 5, 2014, Pages 1148-1151

  Pellagatti, A ^a   Fernandez Mercado, M ^a   Di Genua, C ^a   Larrayoz, M J ^b   Killick, S ^c   Dolatshad, H ^a   Burns, A ^d   Calasanz, M J ^b   Schuh, A ^d   Boultwood, J ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF NAVARRA   (Spain)

^c ROYAL BOURNEMOUTH HOSPITAL   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DOUBLE STRANDED DNA; RYANODINE RECEPTOR; SERINE ARGININE RICH PROTEIN;

ACUTE GRANULOCYTIC LEUKEMIA; CANCER GROWTH; CASE REPORT; CHROMOSOME 5; DISEASE COURSE; DNA BINDING; DNA DAMAGE; EXOME; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC TRANSFORMATION; GENOMIC INSTABILITY; HIGH THROUGHPUT SEQUENCING; HUMAN; INDEL MUTATION; LETTER; MALIGNANT HYPERTHERMIA; MISSENSE MUTATION; MYELODYSPLASTIC SYNDROME; PRIORITY JOURNAL; RNA SEQUENCE; WHOLE EXOME SEQUENCING;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; EXOME; HUMANS; LEUKEMIA, MYELOID, ACUTE; MYELODYSPLASTIC SYNDROMES;

EID: 84899942630     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2013.381     Document Type: Letter

References (15)

1. Heaney ML, Golde DW. Myelodysplasia. N Engl J Med 1999; 340: 1649-1660.
2. Boultwood J, Dolatshad H, Varanasi SS, Yip BH, Pellagatti A. The role of splicing factor mutations in the pathogenesis of the myelodysplastic syndromes. Adv Biol Regul 2013; e-pub ahead of print 15 September 2013; doi:10.1016/j.jbior.2013.09.005.
3. Walter MJ, Shen D, Ding L, Shao J, Koboldt DC, Chen K. et al. Clonal architecture of secondary acute myeloid leukemia. N Engl J Med 2012; 366: 1090-1098.
4. Boultwood J, Pellagatti A, McKenzie AN, Wainscoat JS. Advances in the 5q-syndrome. Blood 2010; 116: 5803-5811.
5. Fernandez-Mercado M, Burns A, Pellagatti A, Giagounidis A, Germing U, Agirre X. et al. Targeted resequencing analysis of 25 genes commonly mutated in myeloid disorders in del(5q) myelodysplastic syndromes. Haematologica 2013; 98: 1856-1864.
6. Jadersten M, Saft L, Smith A, Kulasekararaj A, Pomplun S, Gohring G. et al. TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression. J Clin Oncol 2011; 29: 1971-1979.
7. Papaemmanuil E, Gerstung M, Malcovati L, Tauro S, Gundem G, Van Loo P. et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood 2013; 122: 3616-3627.
8. Welch JS, Ley TJ, Link DC, Miller CA, Larson DE, Koboldt DC. et al. The origin and evolution of mutations in acute myeloid leukemia. Cell 2012; 150: 264-278.
9. Fernandez-Mercado M, Pellagatti A, Di Genua C, Larrayoz MJ, Winkelmann N, Aranaz P. et al. Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. Br J Haematol 2013; 163: 235-239.
10. Kobayashi S, Yamamoto T, Parness J, Ikemoto N. Antibody probe study of Ca2+ channel regulation by interdomain interaction within the ryanodine receptor. Biochem J 2004; 380: 561-569.
11. Kon A, Shih LY, Minamino M, Sanada M, Shiraishi Y, Nagata Y. et al. Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms. Nat Genet 2013; 45: 1232-1237.
12. Long JC, Caceres JF. The SR protein family of splicing factors: Master regulators of gene expression. Biochem J 2009; 417: 15-27.
13. Lee SK, Park EJ, Lee HS, Lee YS, Kwon J. Genome-wide screen of human bromodomain-containing proteins identifies Cecr2 as a novel DNA damage response protein. Mol Cells 2012; 34: 85-91.
14. Kim Y, Lee I, Kim D, Won Jung C, Jang J, Kim H. et al. Prognostic impact of NPM1, IDH1/2 and DNAH11 gene mutations on normal karyotype acute myeloid leukemia patients not harboring FLT3/ITD mutation. Haematologica 2013; 98(Suppl 1): 280 (abstract P633).
15. Walter MJ, Shen D, Shao J, Ding L, White BS, Kandoth C. et al. Clonal diversity of recurrently mutated genes in myelodysplastic syndromes. Leukemia 2013; 27: 1275-1282.