9042 Background: Mucosal melanoma is a rare malignancy, notoriously resistant to conventional chemotherapy, with few treatment options. Because of their origin, they do not receive screening and, hence, are detected in advanced stages where prognosis and curative rates are poor. The purpose of this study is to identify novel, potential targets and therapeutic options for this disease, utilizing a multiplatform approach. Methods: In total, 93 mucosal melanoma specimenswere tested via a multiplatform profiling service (Caris Life Sciences, Phoenix, AZ) consisting of gene sequencing (Sanger or next generation sequencing [NGS]), protein expression (immunohistochemistry [IHC]) and/or gene amplification (CISH or FISH). Conjunctival melanoma was excluded. Results: Notable protein overexpression rates included co-expression of PD-1 and PD-L1 (71.4%, 5/7) and cKIT (42.4%, 14/33). Percent agreement between c-KIT by IHC and sequencing was 62% (16/26). Overall, sequencing revealed the highest mutation rates in TP53 (...
[1]
J. Larkin,et al.
Pembrolizumab versus Ipilimumab in Advanced Melanoma.
,
2015,
The New England journal of medicine.
[2]
P. Schirmacher,et al.
Comparison of molecular abnormalities in vulvar and vaginal melanomas
,
2014,
Modern Pathology.
[3]
J. Hansson,et al.
KIT, NRAS and BRAF mutations in sinonasal mucosal melanoma: a study of 56 cases
,
2013,
British Journal of Cancer.