Lack of SF3B1 R625 mutations in cutaneous melanoma

Diagnostic Pathology

Volumn 8, Issue 1, 2013, Pages

  Schilling, Bastian ^a   Bielefeld, Nicola ^a   Sucker, Antje ^a   Hillen, Uwe ^a   Zimmer, Lisa ^a   Schadendorf, Dirk ^a   Zeschnigk, Michael ^a   Griewank, Klaus G ^a  

^a UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

Cancer genetics; Dermatology; Melanoma; SF3B1

Indexed keywords

B RAF KINASE; BRAF PROTEIN, HUMAN; PHOSPHOPROTEIN; SF3B1 PROTEIN, HUMAN; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ARTICLE; EXON; FEMALE; GENETICS; HUMAN; MALE; MELANOMA; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; ONCOGENE RAS; PATHOLOGY; SKIN; SKIN TUMOR; UVEA MELANOMA; UVEA TUMOR;

BASE SEQUENCE; EXONS; FEMALE; GENES, RAS; HUMANS; MALE; MELANOMA; MUTATION; PHOSPHOPROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; RIBONUCLEOPROTEIN, U2 SMALL NUCLEAR; SKIN; SKIN NEOPLASMS; UVEAL NEOPLASMS;

EID: 84877905313     PISSN: None     EISSN: 17461596     Source Type: Journal    
DOI: 10.1186/1746-1596-8-87     Document Type: Article

References (30)

1. Siegel R, Naishadham D, Jemal A. Cancer statistics, 2012. CA Cancer J Clin 2012, 62:10-29. 10.3322/caac.20138, 22237781.
2. Flaherty KT, Hodi FS, Fisher DE. From genes to drugs: targeted strategies for melanoma. Nat Rev Cancer 2012, 12:349-361. 10.1038/nrc3218, 22475929.
3. Chapman PB, Hauschild A, Robert C, Haanen JB, Ascierto P, Larkin J, Dummer R, Garbe C, Testori A, Maio M. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 2011, 364:2507-2516. 10.1056/NEJMoa1103782, 3549296, 21639808.
4. Flaherty KT, Infante JR, Daud A, Gonzalez R, Kefford RF, Sosman J, Hamid O, Schuchter L, Cebon J, Ibrahim N. Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. N Engl J Med 2012, 367:1694-1703. 10.1056/NEJMoa1210093, 3549295, 23020132.
5. Ball NJ, Yohn JJ, Morelli JG, Norris DA, Golitz LE, Hoeffler JP. Ras mutations in human melanoma: a marker of malignant progression. J Invest Dermatol 1994, 102:285-290. 10.1111/1523-1747.ep12371783, 8120410.
6. Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W. Mutations of the BRAF gene in human cancer. Nature 2002, 417:949-954. 10.1038/nature00766, 12068308.
7. Curtin JA, Fridlyand J, Kageshita T, Patel HN, Busam KJ, Kutzner H, Cho KH, Aiba S, Brocker EB, LeBoit PE. Distinct sets of genetic alterations in melanoma. N Engl J Med 2005, 353:2135-2147. 10.1056/NEJMoa050092, 16291983.
8. Van Raamsdonk CD, Bezrookove V, Green G, Bauer J, Gaugler L, O'Brien JM, Simpson EM, Barsh GS, Bastian BC. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 2009, 457:599-602. 10.1038/nature07586, 2696133, 19078957.
9. Van Raamsdonk CD, Griewank KG, Crosby MB, Garrido MC, Vemula S, Wiesner T, Obenauf AC, Wackernagel W, Green G, Bouvier N. Mutations in GNA11 in uveal melanoma. N Engl J Med 2010, 363:2191-2199. 10.1056/NEJMoa1000584, 3107972, 21083380.
10. Harbour JW, Onken MD, Roberson ED, Duan S, Cao L, Worley LA, Council ML, Matatall KA, Helms C, Bowcock AM. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 2010, 330:1410-1413. 10.1126/science.1194472, 3087380, 21051595.
11. Wiesner T, Murali R, Fried I, Cerroni L, Busam K, Kutzner H, Bastian BC. A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression. Am J Surg Pathol 2012, 36:818-830. 10.1097/PAS.0b013e3182498be5, 22367297.
12. Wiesner T, Obenauf AC, Murali R, Fried I, Griewank KG, Ulz P, Windpassinger C, Wackernagel W, Loy S, Wolf I. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Gen 2011, 43:1018-1021.
13. Carbone M, Ferris LK, Baumann F, Napolitano A, Lum CA, Flores EG, Gaudino G, Powers A, Bryant-Greenwood P, Krausz T. BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. J Trans Med 2012, 10:179.
14. Njauw CN, Kim I, Piris A, Gabree M, Taylor M, Lane AM, DeAngelis MM, Gragoudas E, Duncan LM, Tsao H. Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. PLoS One 2012, 7:e35295. 10.1371/journal.pone.0035295, 3335872, 22545102.
15. Moore MW, Gasparini R. FISH as an effective diagnostic tool for the management of challenging melanocytic lesions. Diagn Pathol 2011, 6:76. 10.1186/1746-1596-6-76, 3162533, 21834951.
16. Bauer J, Bastian BC. Distinguishing melanocytic nevi from melanoma by DNA copy number changes: comparative genomic hybridization as a research and diagnostic tool. Dermatol Ther 2006, 19:40-49. 10.1111/j.1529-8019.2005.00055.x, 16405569.
17. Nodin B, Fridberg M, Jonsson L, Bergman J, Uhlen M, Jirstrom K. High MCM3 expression is an independent biomarker of poor prognosis and correlates with reduced RBM3 expression in a prospective cohort of malignant melanoma. Diagn Pathol 2012, 7:82. 10.1186/1746-1596-7-82, 3433373, 22805320.
18. Schimming TT, Grabellus F, Roner M, Pechlivanis S, Sucker A, Bielefeld N, Moll I, Schadendorf D, Hillen U. pHH3 immunostaining improves interobserver agreement of mitotic index in thin melanomas. Am J Dermatopathol 2012, 34:266-269. 10.1097/DAD.0b013e31823135a3, 22197861.
19. Harbour JW, Roberson ED, Anbunathan H, Onken MD, Worley LA, Bowcock AM. Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Gen 2013, 45(2):133-135. Epub 2013 Jan 13.
20. Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D, Pellagatti A, Wainscoat JS, Hellstrom-Lindberg E, Gambacorti-Passerini C. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Eng J Med 2011, 365:1384-1395.
21. Quesada V, Conde L, Villamor N, Ordonez GR, Jares P, Bassaganyas L, Ramsay AJ, Bea S, Pinyol M, Martinez-Trillos A. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat Gen 2012, 44:47-52.
22. Ellis MJ, Ding L, Shen D, Luo J, Suman VJ, Wallis JW, Van Tine BA, Hoog J, Goiffon RJ, Goldstein TC. Whole-genome analysis informs breast cancer response to aromatase inhibition. Nature 2012, 486:353-360. 3383766, 22722193.
23. Houben R, Becker JC, Kappel A, Terheyden P, Brocker EB, Goetz R, Rapp UR. Constitutive activation of the Ras-Raf signaling pathway in metastatic melanoma is associated with poor prognosis. J Carcinogen 2004, 3:6.
24. Beadling C, Jacobson-Dunlop E, Hodi FS, Le C, Warrick A, Patterson J, Town A, Harlow A, Cruz F, Azar S. KIT gene mutations and copy number in melanoma subtypes. Clin Cancer Res J Am Assoc Cancer Res 2008, 14:6821-6828.
25. Carvajal RD, Antonescu CR, Wolchok JD, Chapman PB, Roman RA, Teitcher J, Panageas KS, Busam KJ, Chmielowski B, Lutzky J. KIT as a therapeutic target in metastatic melanoma. JAMA 2011, 305:2327-2334. 10.1001/jama.2011.746, 21642685.
26. Curtin JA, Busam K, Pinkel D, Bastian BC. Somatic activation of KIT in distinct subtypes of melanoma. J Clin Oncol J Am Soc Clin Oncol 2006, 24:4340-4346.
27. Garrido MC, Bastian BC. KIT as a therapeutic target in melanoma. J Invest Dermatol 2010, 130:20-27. 10.1038/jid.2009.334, 2831053, 19847190.
28. Forbes SA, Bindal N, Bamford S, Cole C, Kok CY, Beare D, Jia M, Shepherd R, Leung K, Menzies A. COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res 2011, 39:D945-950. 10.1093/nar/gkq929, 3013785, 20952405.
29. Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker JP, Cheng E, Davis MJ, Goh G, Choi M. Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nat Gen 2012, 44:1006-1014.
30. Hodis E, Watson IR, Kryukov GV, Arold ST, Imielinski M, Theurillat JP, Nickerson E, Auclair D, Li L, Place C. A landscape of driver mutations in melanoma. Cell 2012, 150:251-263. 10.1016/j.cell.2012.06.024, 22817889.