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Insights into genetic alterations of liver metastases from uveal melanoma
Author(s) -
McCarthy Conni,
Kalirai Helen,
Lake Sarah L.,
Dodson Andrew,
Damato Bertil E.,
Coupland Sarah E.
Publication year - 2016
Publication title -
pigment cell and melanoma research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.618
H-Index - 105
eISSN - 1755-148X
pISSN - 1755-1471
DOI - 10.1111/pcmr.12433
Subject(s) - bap1 , monosomy , copy number variation , melanoma , immunohistochemistry , comparative genomic hybridization , biology , cancer research , copy number analysis , chromosome , medicine , pathology , gene , genetics , genome , karyotype
Summary The liver is the organ usually affected by metastatic uveal melanoma ( MUM ). Current treatments are almost always ineffective and mortality remains high. In this study, copy number variations ( CNV s) were identified in 12 metastatic and five matched primary UM s ( PUM s). Our data revealed a wide spectrum of genetic alterations in MUM . Most common were amplifications of chromosome (chr.) 8q; alterations on chr. 3 included monosomy, isodisomy, and large regions of homozygosity ( ROH ). Genomic profiles of PUM ‐ MUM pairs varied in their degree of similarity and complexity. However, within the pairs, 135 genes were consistently altered. Protein expression of C‐ MYC and BAP 1 was examined by immunohistochemistry ( IHC ); a positive association between IHC and CNV s was seen for C‐ MYC . This comprehensive catalogue of CNV s associated with MUM should facilitate the identification of key alterations that drive tumor growth. This would have the potential to select urgently needed novel, targeted, therapeutic regimens.