Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis

Blood

Volumn 119, Issue 14, 2012, Pages 3203-3210

  Makishima, Hideki ^a   Visconte, Valeria ^a   Sakaguchi, Hirotoshi ^b   Jankowska, Anna M ^a   Kar, Sarah Abu ^a   Jerez, Andres ^a   Przychodzen, Bartlomiej ^a   Bupathi, Manoj ^a   Guinta, Kathryn ^a   Afable, Manuel G ^a   Sekeres, Mikkael A ^a   Padgett, Richard A ^c   Tiu, Ramon V ^a   Maciejewski, Jaroslaw P ^a  

^a TAUSSIG CANCER INSTITUTE   (United States)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN; SF3B1 PROTEIN; SRSF2 PROTEIN; U2AF1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHRONIC MYELOMONOCYTIC LEUKEMIA; CONTROLLED STUDY; FEMALE; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LEUKEMOGENESIS; MAJOR CLINICAL STUDY; MALE; MUTATION; MYELODYSPLASTIC SYNDROME; PRIORITY JOURNAL; PROGNOSIS; RNA SEQUENCE; RNA SPLICING; SIDEROBLASTIC ANEMIA; SOMATIC MUTATION; SPLICEOSOME; TUMOR SUPPRESSOR GENE;

EID: 84859597590     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2011-12-399774     Document Type: Article

References (49)

1. Greenberg P, Cox C, LeBeau MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89(6):2079-2088. (Pubitemid 27132124)
2. 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.
3. Tiu RV, Gondek LP, O'Keefe CL, et al. New lesions detected by single nucleotide polymorphism array-based chromosomal analysis have important clinical impact in acute myeloid leukemia. J Clin Oncol. 2009;27(31):5219-5226.
4. Ley TJ, Mardis ER, Ding L, et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature. 2008;456(7218):66-72.
5. Bejar R, Stevenson K, Abdel-Wahab O, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med. 2011;364(26): 2496-2506.
6. Mardis ER, Ding L, Dooling DJ, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med. 2009;361(11): 1058-1066.
7. Dunbar AJ, Gondek LP, O'Keefe CL, et al. 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. Cancer Res. 2008;68(24):10349-10357.
8. Sanada M, Suzuki T, Shih LY, et al. Gain-offunction of mutated C-CBL tumour suppressor in myeloid neoplasms. Nature. 2009;460(7257): 904-908.
9. Bandi SR, Brandts C, Rensinghoff M, et al. E3 ligase-defective Cbl mutants lead to a generalized mastocytosis and myeloproliferative disease. Blood. 2009;114(19):4197-4208.
10. Makishima H, Cazzolli H, Szpurka H, et al. Mutations of E3 ubiquitin ligase Cbl family members constitute a novel common pathogenic lesion in myeloid malignancies. J Clin Oncol. 2009;27(36): 6109-6116.
11. Jadersten M, Saft L, Smith A, et al. TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression. J Clin Oncol. 2011;29(15):1971-1979.
12. Beer PA, Delhommeau F, LeCouedic JP, et al. Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm. Blood. 2010;115(14):2891-2900.
13. Jasek M, Gondek LP, Bejanyan N, et al. TP53 mutations in myeloid malignancies are either homozygous or hemizygous due to copy number-neutral loss of heterozygosity or deletion of 17p. Leukemia. 2010;24(1):216-219.
14. Ley TJ, Ding L, Walter MJ, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010;363(25):2424-2433.
15. Shah MY, Licht JD. DNMT3A mutations in acute myeloid leukemia. Nat Genet. 2010;43(4): 289-290.
16. Green A, Beer P. Somatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms. N Engl J Med. 2010; 362(4):369-370.
17. Delhommeau F, Dupont S, Della Valle V, et al. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009;360(22):2289-2301.
18. Jankowska AM, Szpurka H, Tiu RV, et al. Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms. Blood. 2009;113(25):6403-6410.
19. Ernst T, Chase AJ, Score J, et al. Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nat Genet. 2010; 42(8):722-726.
20. Nikoloski G, Langemeijer SM, Kuiper RP, et al. Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes. Nat Genet. 2010;42(8):665-667.
21. Makishima H, Jankowska AM, Tiu RV, et al. Novel homo- and hemizygous mutations in EZH2 in myeloid malignancies. Leukemia. 2010;24(10): 1799-1804.
22. van Haaften G, Dalgliesh GL, Davies H, et al. Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. Nat Genet. 2009;41(5):521-523.
23. Gelsi-Boyer V, Trouplin V, Adelaide J, et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol. 2009; 145(6):788-800.
24. Boultwood J, Perry J, Zaman R, et al. Highdensity single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression. Leukemia. 2010;24(6):1139-1145.
25. Kohlmann A, Grossmann V, Klein HU, et al. Nextgeneration sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1. J Clin Oncol. 2010;28(24): 3858-3865.
26. Jankowska AM, Makishima H, Tiu RV, et al. Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A. Blood. 2011;118(14):3932-3941.
27. Shaffer LG, Tommerup N. ISCN 2009. An International System for Human Cytogenetics Nomenclature. Basel, Switzerland: Karger; 2009.
28. Maciejewski JP, Tiu RV, O'Keefe C. Application of array-based whole genome scanning technologies as a cytogenetic tool in haematological malignancies. Br J Haematol. 2009;146(5):479-488.
29. Gondek LP, Tiu R, O'Keefe CL, Sekeres MA, Theil KS, Maciejewski JP. Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood. 2008;111(3):1534-1542. (Pubitemid 351213443)
30. Centre for Applied Genomics. Database of Genomic Variants. http://projects.tcag.ca/ variation. Accessed April 1, 2011.
31. Nannya Y, Sanada M, Nakazaki K, et al. A robust algorithm for copy number detection using highdensity oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res. 2005; 65(14):6071-6079. (Pubitemid 40994391)
32. National Center for Biotechnology Information. Entrez Gene. http://www.ncbi.nlm.nih.gov/gene. Accessed April 7, 2011.
33. European Molecular Biology Laboratory and European Bioinformatics Institute. Ensembl Genome Browser. http://useast.ensembl.org/index.html. Accessed April 1, 2011.
34. Makishima H, Jankowska AM, McDevitt MA, et al. CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia. Blood. 2011;117(21):e198-e206.
35. Visconte V, Makishima H, Jankowska A, et al. SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts [published online ahead of print September 2, 2011]. Leukemia. doi:10.1038/leu.2011.232.
36. Yoshida K, Sanada M, Shiraishi Y, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011;478(7367):64-69.
37. Papaemmanuil E, Cazzola M, Boultwood J, et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med. 2011;365(15): 1384-1395.
38. Graubert TA, Shen D, Ding L, et al. Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. Nat Genet. 2011;44(1): 53-57.
39. Malcovati L, Papaemmanuil E, Bowen DT, et al. Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/ myeloproliferative neoplasms. Blood. 2011; 118(26):6239-6246.
40. Damm F, Thol F, Kosmider O, et al. SF3B1 mutations in myelodysplastic syndromes: clinical associations and prognostic implications [published online ahead of print November 8, 2011]. Leukemia. doi:10.1038/leu.2011.321.
41. Lasho TL, Finke CM, Hanson CA, et al. SF3B1 mutations in primary myelofibrosis: clinical, histopathology and genetic correlates among 155 patients [published online ahead of print November 8, 2011]. Leukemia. doi:10.1038/leu.2011.320.
42. Patnaik MM, Lasho TL, Hodnefield JM, et al. SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value. Blood. 2012; 119(2):569-572.
43. Fu Y, Masuda A, Ito M, Shinmi J, Ohno K. AGdependent 3′-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon. Nucleic Acids Res. 2011; 39(10):4396-4404.
44. Rossi D, Bruscaggin A, Spina V, et al. Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness. Blood. 2011;118(26): 6904-6908.
45. Wang L, Lawrence MS, Wan Y, et al. SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N Engl J Med. 2011;365(26):2497-2506.
46. Quesada V, Conde L, Villamor N, et al. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat Genet. 2011;44(1):47-52.
47. Bejar R, Stevenson K, Caughey B, et al. Validation of a prognostic model and the impact of SF3B1, DNMT3A, and other mutations in 289 genetically characterized lower risk MDS patient samples [abstract]. Blood. 2011;118(21):Abstract 969.
48. Smith AE, Mian SA, Kulasekararaj AG, Mohamedali AM, Mufti GJ. Whole exome sequencing reveals acquired SF3B1 mutations defining patients with acquired idiopathic sideroblastic anaemia [abstract]. Blood. 2011;118(21): Abstract 2793.
49. Schnittger S, Meggendorfer M, Kohlmann A, et al. SRSF2 is Mutated in 47.2% (77/163) of chronic myelomonocytic leukemia (CMML) and prognostically favorable in cases with concomitant RUNX1 mutations [abstract]. Blood. 2011; 118(21):Abstract 274.