Abstract
BackgroundSDHD promoter mutations were reported in 4–10% of cutaneous melanomas. The advanced clinico-pathological and patient survival association with SDHD mutation and/or expression in cutaneous melanoma remains controversial.ObjectivesTo evaluate the presence of SDHD promoter mutations and SDHD protein expression in a melanoma series and its possible association with prognosis and survival of the patients.MethodsWe assessed SDHD promoter status in cutaneous melanomas (CM), ocular melanomas (OM) and melanoma cell lines, and the expression of SDHD protein by immunohistochemistry in CM and OM, and by western blot in melanoma cell lines. We explored the putative association between SDHD protein expression and clinico-pathological and prognostic parameters of melanoma.ResultsWe detected 2% of SDHD promoter mutations in CM, but none in OM and cell lines. SDHD protein expression was present in all CM, in OM and in all CM and OM derived cell lines analysed. A significant association between lower SDHD mean protein expression and presence of ulceration and higher pT stage was found.ConclusionsSDHD promoter mutation seems to be a rare event in CM but SDHD lower expression might associate with worst prognostic features in CM.
Highlights
SDHD is one of the four subunits that compose the Succinate Dehydrogenase (SDH) complex [1]
SDHD promoter mutation seems to be a rare event in cutaneous melanomas (CM) but SDHD lower expression might associate with worst prognostic features in CM
86 CM were analysed for SDHD promoter mutations
Summary
SDHD is one of the four subunits that compose the Succinate Dehydrogenase (SDH) complex [1]. Promoter mutations in SDHD where recently described by Weinhold et al in 10% of cutaneous melanoma, based on data mining, using the whole-genome sequences of human tumours collected from The Cancer Genome Atlas and other public sources. The mutations in SDHD promoter associated with reduced gene expression and decrease patient survival [8]. Scholz et al reported 4% of SDHD promoter mutations in a cohort of cutaneous melanomas, but not related with clinico-pathologic factors or patient survival, and no mutations were found in ocular, mucosal and occult melanomas [9]. SDHD promoter mutations were reported in 4–10% of cutaneous melanomas. The advanced clinico-pathological and patient survival association with SDHD mutation and/or expression in cutaneous melanoma remains controversial. University of Alabama at Birmingham, UNITED STATES Received: March 14, 2017 Accepted: June 14, 2017 Published: June 29, 2017
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