Clonal diversity of recurrently mutated genes in myelodysplastic syndromes

Leukemia

Volumn 27, Issue 6, 2013, Pages 1275-1282

  Walter, M J ^a,b   Shen, D ^a   Shao, J ^a   Ding, L ^a,b   White, Bs ^a   Kandoth, C ^a   Miller, C A ^a   Niu, B ^a   McLellan, M D ^a   Dees, N D ^a   Fulton, R ^a   Elliot, K ^a   Heath, S ^a   Grillot, M ^a   Westervelt, P ^a,b   Link, D C ^a,b   DiPersio, J F ^a,b   Mardis, E ^a   Ley, T J ^a,b   Wilson, R K ^a,b   Graubert, T A ^a,b   more..

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b USA   (United States)

Author keywords

acute myeloid leukemia; clonality; genomics; MDS; myelodysplastic syndromes; sequencing

Indexed keywords

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; ARTICLE; AUTOSOME; CLONE; COMPARATIVE STUDY; CONTROLLED STUDY; CYTOARCHITECTURE; CYTOGENETICS; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOME; HETEROZYGOSITY LOSS; HUMAN; HYBRIDIZATION; INDEL MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MULTIGENE FAMILY; MYELODYSPLASTIC SYNDROME; PATHOGENESIS; PRIORITY JOURNAL; SOMATIC MUTATION; SPLICEOSOME; UNIPARENTAL DISOMY;

FEMALE; GENE FREQUENCY; HUMANS; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; MUTATION; MYELODYSPLASTIC SYNDROMES; RECURRENCE;

EID: 84878900540     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2013.58     Document Type: Article

References (31)

1. Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med 2011; 365: 1384-95.
2. Visconte V, Makishima H, Jankowska A, Szpurka H, Traina F, Jerez A et al. SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts. Leukemia 2012; 26: 542-5.
3. Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 2011; 478: 64-9.
4. Graubert TA, Shen D, Ding L, Okeyo-Owuor T, Lunn CL, Shao J et al. Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. Nat Genet 2011; 44: 53-7.
5. Bejar R, Stevenson KE, Caughey BA, Abdel-Wahab O, Steensma DP, Galili N et al. Validation of a prognostic model and the impact of mutations in patients with lower-risk myelodysplastic syndromes. J Clin Oncol 2012; 30: 3376-82.
6. Bejar R, Stevenson K, Abdel-Wahab O, Galili N, Nilsson B, Garcia-Manero G et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med 2011; 364: 2496-506.
7. 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: 264-78.
8. 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: 1090-8.
9. Ley TJ, Ding L, Walter MJ, McLellan MD, Lamprecht T, Larson DE et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med 2010; 363: 2424-33.
10. Mardis ER, Ding L, Dooling DJ, Larson DE, McLellan MD, Chen K et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 2009; 361: 1058-66.
11. Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, Chen K et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 2008; 456: 66-72.
12. Larson DE, Harris CC, Chen K, Koboldt DC, Abbott TE, Dooling DJ et al. SomaticSniper: identification of somatic point mutations in whole genome sequencing data. Bioinformatics 2012; 28: 311-7.
13. Koboldt DC, Zhang Q, Larson DE, Shen D, McLellan MD, Lin L et al. VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Research 2012; 22: 568-76.
14. Dees ND, Zhang Q, Kandoth C, Wendl MC, Schierding W, Koboldt DC et al. MuSiC: identifying mutational significance in cancer genomes. Genome Res 2012; 22: 1589-98.
15. Kulasekararaj AG, Smith AE, Mian SA, Mohamedali AM, Krishnamurthy P, Lea NC et al. TP53 mutations in myelodysplastic syndrome are strongly correlated with aberrations of chromosome 5, and correlate with adverse prognosis. Br J Haematol 2013; 160: 660-72.
16. Thol F, Kade S, Schlarmann C, Loffeld P, Morgan M, Krauter J et al. Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes. Blood 2012; 119: 3578-84.
17. Makishima H, Visconte V, Sakaguchi H, Jankowska AM, Abu Kar S, Jerez A et al. Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. Blood 2012; 119: 3203-10.
18. Damm F, Kosmider O, Gelsi-Boyer V, Renneville A, Carbuccia N, Hidalgo-Curtis C et al. Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes. Blood 2012; 119: 3211-8.
19. Graubert TA, Payton MA, Shao J, Walgren RA, Monahan RS, Frater JL et al. Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis. PLoS One 2009; 4: e4583.
20. Lambright DG, Sondek J, Bohm A, Skiba NP, Hamm HE, Sigler PB. The 2.0 A crystal structure of a heterotrimeric G protein. Nature 1996; 379: 311-9.
21. Ford CE, Skiba NP, Bae H, Daaka Y, Reuveny E, Shekter LR et al. Molecular basis for interactions of G protein betagamma subunits with effectors. Science 1998; 280: 1271-4. (Pubitemid 28269623)
22. Wall MA, Coleman DE, Lee E, Iniguez-Lluhi JA, Posner BA, Gilman AG et al. The structure of the G protein heterotrimer Gi alpha 1 beta 1 gamma 2. Cell 1995; 83: 1047-58.
23. Farfel Z, Bourne HR, Iiri T. The expanding spectrum of G protein diseases. N Engl J Med 1999; 340: 1012-20. (Pubitemid 29157634)
24. Jernigan KK, Cselenyi CS, Thorne CA, Hanson AJ, Tahinci E, Hajicek N et al. Gbetagamma activates GSK3 to promote LRP6-mediated beta-catenin transcriptional activity. Science Signaling 2010; 3: ra37.
25. Piazza R, Valletta S, Winkelmann N, Redaelli S, Spinelli R, Pirola A et al. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. Nat Genet 2012; 45: 18-24.
26. Makishima H, Yoshida K, Nguyen N, Sanada M, Okuno Y, Ng KP et al. Somatic mutations in Schinzel-Giedion syndrome gene SETBP1 determine progression in myeloid malignancies. ASH Annual Meeting Abstracts 2012; 120: 2.
27. Papaemmanuil E, Gerstung M, Malcovati L, Tauro S, Gundem G, Van Loo P et al. High throughput targeted gene sequencing in 738 myelodysplastic syndromes patients reveals novel oncogenic genes, rare driver mutations and complex molecular signatures with potential impact for patient diagnosis and prognosis in the clinic. ASH Annual Meeting Abstracts 2012; 120: LBA-5.
28. Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet 2010; 42: 483-5.
29. 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: 1971-9.
30. Smith AE, Mohamedali AM, Kulasekararaj A, Lim Z, Gaken J, Lea NC et al. Nextgeneration sequencing of the TET2 gene in 355 MDS and CMML patients reveals low-abundance mutant clones with early origins, but indicates no definite prognostic value. Blood 2010; 116: 3923-32.
31. Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N et al. The sequence alignment/map format and SAMtools. Bioinformatics 2009; 25: 2078-9.