A common alternative splicing signature is associated with SF3B1 mutations in malignancies from different cell lineages

Leukemia

Volumn 28, Issue 6, 2014, Pages 1355-1357

  Gentien, D ^a,b   Kosmider, O ^c   Nguyen Khac, F ^d   Albaud, B ^a,b   Rapinat, A ^a,b   Dumont, A G ^a,e   Damm, F ^g,h   Popova, T ^a,e   Marais, R ^f   Fontenay, M ^c   Roman Roman, S ^a,b   Bernard, O A ^g   Stern, M H ^a,e  

^a INSTITUT CURIE   (France)

^b Translational Research Department   (France)

^c Institut Cochin   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e INSTITUT CURIE   (France)

^f UNIVERSITY OF MANCHESTER   (United Kingdom)

^g INSTITUT GUSTAVE ROUSSY   (France)

^h UNIVERSITÉ PARIS SACLAY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; SF3B1 PROTEIN; SMALL NUCLEAR RIBONUCLEOPROTEIN; UNCLASSIFIED DRUG; RNA; SPLICING FACTOR 3B SUBUNIT 1;

ALTERNATIVE RNA SPLICING; CANCER GENETICS; CELL LINEAGE; DISEASE ASSOCIATION; GENE MUTATION; HUMAN; INTRON RETENTION; LETTER; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; RNA EXTRACTION; SPLICEOSOME; CHRONIC LYMPHATIC LEUKEMIA; EXON; MYELODYSPLASTIC SYNDROME; RNA PROCESSING; RNA SEQUENCE; SOLID TUMOR;

ALTERNATIVE SPLICING; CELL LINEAGE; HUMANS; LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL; MELANOMA; MUTATION; MYELODYSPLASTIC SYNDROMES; PHOSPHOPROTEINS; PROGNOSIS; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RIBONUCLEOPROTEIN, U2 SMALL NUCLEAR; RNA, MESSENGER; UVEAL NEOPLASMS;

EID: 84902119645     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2014.28     Document Type: Letter

References (9)

1. Wahl MC, Will CL, Lührmann R. The spliceosome: Design principles of a dynamic RNP machine. Cell 2009; 136: 701-718.
2. Wang L, Lawrence MS, Wan Y, Stojanov P, Sougnez C, Stevenson K et al. SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N Engl J Med 2011; 365: 2497-2506.
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: 64-69.
4. Quesada V, Conde L, Villamor N, Ordoñez GR, Jares P, Bassaganyas L et al. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat Genet 2011; 44: 47-52.
5. Scott LM, Rebel VI. Acquired mutations that affect pre-mRNA splicing in hematologic malignancies and solid tumors. J Natl Cancer Inst 2013; 105: 1540-1549.
6. Harbour JW, Roberson EDO, Anbunathan H, Onken MD, Worley LA, Bowcock AM. Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet 2013; 45: 133-135.
7. Furney SJ, Pedersen M, Gentien D, Dumont AG, Rapinat A, Desjardins L et al. SF3B1 mutations are associated with alternative splicing in uveal melanoma. Cancer Discov 2013; 3: 1122-1129.
8. Martin M, Ma-höfer L, Temming P, Rahmann S, Metz C, Bornfeld N et al. Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. Nat Genet 2013; 45: 933-936.
9. Rossi D, Spina V, Bomben R, Rasi S, Dal-Bo M, Bruscaggin A et al. Association between molecular lesions and specific B-cell receptor subsets in chronic lymphocytic leukemia. Blood 2013; 121: 4902-4905.