Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.
Marcel Martin,Marcel Martin,Lars Maßhöfer,Petra Temming,Sven Rahmann,Claudia H D Metz,Norbert Bornfeld,Johannes van de Nes,Ludger Klein-Hitpass,Alan G. Hinnebusch,Bernhard Horsthemke,Dietmar R. Lohmann,Michael Zeschnigk +12 more
TLDR
Using exome sequencing, recurrent somatic mutations in EIF1AX and SF3B1 are identified occurring in uveal melanomas with disomy 3, which rarely metastasize and are associated with poor prognosis.Abstract:
Michael Zeschnigk and colleagues identify recurrent somatic mutations of EIF1AX and SF3B1 in uveal melanomas with disomy 3. The EIF1AX mutations specifically alter the N-terminal tail of the protein and were found exclusively in tumors lacking SF3B1 mutations.read more
Citations
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A Chemical Genetics Approach for the Functional Assessment of Novel Cancer Genes
Qianhe Zhou,Adnan Derti,David A. Ruddy,Daniel P. Rakiec,Iris Kao,Michelle Lira,Veronica Gibaja,Ho Man Chan,Yi Yang,Junxia Min,Michael R. Schlabach,Frank Stegmeier +11 more
TL;DR: The Degron-KI system was able to faithfully recapitulate the effects of pharmacologic EZH2 and PI3Kα inhibitors in cancer cell lines and provided the first causal link between SF3B1 hotspot mutations and splicing alterations.
Journal ArticleDOI
SF3B1 and BAP1 mutations in blue nevus-like melanoma
Klaus G. Griewank,Hansgeorg Müller,Louise Jackett,Louise Jackett,Michael Emberger,Inga Möller,Johannes van de Nes,Johannes van de Nes,Lisa Zimmer,Elisabeth Livingstone,Thomas Wiesner,Simone L. Scholz,Ioana Cosgarea,Antje Sucker,Tobias Schimming,Uwe Hillen,Bastian Schilling,Bastian Schilling,Annette Paschen,Henning Reis,Thomas Mentzel,Heinz Kutzner,Arno Rütten,Rajmohan Murali,Richard A. Scolyer,Richard A. Scolyer,Dirk Schadendorf +26 more
TL;DR: The findings suggest that the genetic profile of coexistent GNAQ or GNA11 mutations with BAP1 or SF3B1 mutations can aid the histopathological diagnosis of blue nevus-like melanoma and distinguish blue neVus- like melanoma from conventional epidermal-derived melanomas.
Journal ArticleDOI
Immunotherapy for the Treatment of Uveal Melanoma: Current Status and Emerging Therapies.
TL;DR: Although immunotherapy with anti-CTLA-4 and anti-PD-1 agents has dramatically changed the treatment approach to cutaneous melanoma, its success in uveal melanoma has been much more limited.
Journal ArticleDOI
Prevalence and phenotypic correlations of EIF1AX mutations in thyroid nodules.
Arivarasan Karunamurthy,Federica Panebianco,Susan J Hsiao,Jennie Vorhauer,Marina N. Nikiforova,Simion I. Chiosea,Yuri E. Nikiforov +6 more
TL;DR: It is shown that EIF1AX mutations occur not only in thyroid carcinomas, but also in benign nodules, and the most common mutation hotspot is the A113_splice, followed by a cluster of mutations in exon 2.
Journal ArticleDOI
The Prognostic Value of AJCC Staging in Uveal Melanoma Is Enhanced by Adding Chromosome 3 and 8q Status.
Mehmet Dogrusöz,Mette Bagger,Sjoerd G. van Duinen,Wilma G. M. Kroes,Claudia A. L. Ruivenkamp,Stefan Böhringer,Klaus Kaae Andersen,Gregorius P M Luyten,Jens Folke Kiilgaard,Martine J. Jager +9 more
TL;DR: The prognostic value of the AJCC staging system can be improved by adding information regarding chromosome 3 and 8q status, which allows a more accurate prognostication in uveal melanoma.
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