Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma

被引:396
作者
Harbour, J. William [1 ]
Roberson, Elisha D. O. [2 ]
Anbunathan, Hima [2 ]
Onken, Michael D. [1 ]
Worley, Lori A. [1 ]
Bowcock, Anne M. [2 ]
机构
[1] Washington Univ, Sch Med, Dept Ophthalmol & Visual Sci, St Louis, MO 63110 USA
[2] Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA
基金
美国国家卫生研究院;
关键词
GENES; GNAQ;
D O I
10.1038/ng.2523
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Uveal melanoma is the most common primary cancer of the eye and often results in fatal metastasis. Here, we describe mutations occurring exclusively at codon 625 of the SF3B1 gene, encoding splicing factor 3B subunit 1, in low-grade uveal melanomas with good prognosis. Thus, uveal melanoma is among a small group of cancers associated with SF3B1 mutations, and these mutations denote a distinct molecular subset of uveal melanomas.
引用
收藏
页码:133 / 135
页数:3
相关论文
共 13 条
[1]   The zebrafish sf3b1b460 mutant reveals differential requirements for the sf3b1 pre-mRNA processing gene during neural crest development [J].
An, Min ;
Henion, Paul D. .
INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY, 2012, 56 (04) :223-237
[2]   Whole-genome analysis informs breast cancer response to aromatase inhibition [J].
Ellis, Matthew J. ;
Ding, Li ;
Shen, Dong ;
Luo, Jingqin ;
Suman, Vera J. ;
Wallis, John W. ;
Van Tine, Brian A. ;
Hoog, Jeremy ;
Goiffon, Reece J. ;
Goldstein, Theodore C. ;
Ng, Sam ;
Lin, Li ;
Crowder, Robert ;
Snider, Jacqueline ;
Ballman, Karla ;
Weber, Jason ;
Chen, Ken ;
Koboldt, Daniel C. ;
Kandoth, Cyriac ;
Schierding, William S. ;
McMichael, Joshua F. ;
Miller, Christopher A. ;
Lu, Charles ;
Harris, Christopher C. ;
McLellan, Michael D. ;
Wendl, Michael C. ;
DeSchryver, Katherine ;
Allred, D. Craig ;
Esserman, Laura ;
Unzeitig, Gary ;
Margenthaler, Julie ;
Babiera, G. V. ;
Marcom, P. Kelly ;
Guenther, J. M. ;
Leitch, Marilyn ;
Hunt, Kelly ;
Olson, John ;
Tao, Yu ;
Maher, Christopher A. ;
Fulton, Lucinda L. ;
Fulton, Robert S. ;
Harrison, Michelle ;
Oberkfell, Ben ;
Du, Feiyu ;
Demeter, Ryan ;
Vickery, Tammi L. ;
Elhammali, Adnan ;
Piwnica-Worms, Helen ;
McDonald, Sandra ;
Watson, Mark .
NATURE, 2012, 486 (7403) :353-360
[3]   Molecular architecture of the multiprotein splicing factor SF3b [J].
Golas, MM ;
Sander, B ;
Will, CL ;
Lührmann, R ;
Stark, H .
SCIENCE, 2003, 300 (5621) :980-984
[4]   The genetics of uveal melanoma: an emerging framework for targeted therapy [J].
Harbour, J. William .
PIGMENT CELL & MELANOMA RESEARCH, 2012, 25 (02) :171-181
[5]   Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas [J].
Harbour, J. William ;
Onken, Michael D. ;
Roberson, Elisha D. O. ;
Duan, Shenghui ;
Cao, Li ;
Worley, Lori A. ;
Council, M. Laurin ;
Matatall, Katie A. ;
Helms, Cynthia ;
Bowcock, Anne M. .
SCIENCE, 2010, 330 (6009) :1410-1413
[6]   Mammalian polycomb-mediated repression of Hox genes requires the essential spliceosomal protein Sf3b1 [J].
Isono, K ;
Mizutani-Koseki, Y ;
Komori, T ;
Schmidt-Zachmann, MS ;
Koseki, H .
GENES & DEVELOPMENT, 2005, 19 (05) :536-541
[7]   Oncogenic Mutations in GNAQ Occur Early in Uveal Melanoma [J].
Onken, Michael D. ;
Worley, Lori A. ;
Long, Meghan D. ;
Duan, Shenghui ;
Council, M. Laurin ;
Bowcock, Anne M. ;
Harbour, J. William .
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2008, 49 (12) :5230-5234
[8]   Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts [J].
Papaemmanuil, E. ;
Cazzola, M. ;
Boultwood, J. ;
Malcovati, L. ;
Vyas, P. ;
Bowen, D. ;
Pellagatti, A. ;
Wainscoat, J. S. ;
Hellstrom-Lindberg, E. ;
Gambacorti-Passerini, C. ;
Godfrey, A. L. ;
Rapado, I. ;
Cvejic, A. ;
Rance, R. ;
McGee, C. ;
Ellis, P. ;
Mudie, L. J. ;
Stephens, P. J. ;
McLaren, S. ;
Massie, C. E. ;
Tarpey, P. S. ;
Varela, I. ;
Nik-Zainal, S. ;
Davies, H. R. ;
Shlien, A. ;
Jones, D. ;
Raine, K. ;
Hinton, J. ;
Butler, A. P. ;
Teague, J. W. ;
Baxter, E. J. ;
Score, J. ;
Galli, A. ;
Della Porta, M. G. ;
Travaglino, E. ;
Groves, M. ;
Tauro, S. ;
Munshi, N. C. ;
Anderson, K. C. ;
El-Naggar, A. ;
Fischer, A. ;
Mustonen, V. ;
Warren, A. J. ;
Cross, N. C. P. ;
Green, A. R. ;
Futreal, P. A. ;
Stratton, M. R. ;
Campbell, P. J. .
NEW ENGLAND JOURNAL OF MEDICINE, 2011, 365 (15) :1384-1395
[9]   Mutations in GNA11 in Uveal Melanoma. [J].
Van Raamsdonk, Catherine D. ;
Griewank, Klaus G. ;
Crosby, Michelle B. ;
Garrido, Maria C. ;
Vemula, Swapna ;
Wiesner, Thomas ;
Obenauf, Anna C. ;
Wackernagel, Werner ;
Green, Gary ;
Bouvier, Nancy ;
Sozen, M. Mert ;
Baimukanova, Gail ;
Roy, Ritu ;
Heguy, Adriana ;
Dolgalev, Igor ;
Khanin, Raya ;
Busam, Klaus ;
Speicher, Michael R. ;
O'Brien, Joan ;
Bastian, Boris C. .
NEW ENGLAND JOURNAL OF MEDICINE, 2010, 363 (23) :2191-2199
[10]   Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi [J].
Van Raamsdonk, Catherine D. ;
Bezrookove, Vladimir ;
Green, Gary ;
Bauer, Juergen ;
Gaugler, Lona ;
O'Brien, Joan M. ;
Simpson, Elizabeth M. ;
Barsh, Gregory S. ;
Bastian, Boris C. .
NATURE, 2009, 457 (7229) :599-U108