<i>SDHD</i> promoter mutations are rare events in cutaneous melanomas but <i>SDHD</i> protein expression is downregulated in advanced cutaneous melanoma
by Helena Pópulo, Rui Batista, Cristina Sampaio, Joana Pardal, José Manuel Lopes, Paula SoaresBackground
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.Objectives
To 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.Methods
We 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.Results
We 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.Conclusions
SDHD promoter mutation seems to be a rare event in CM but SDHD lower expression might associate with worst prognostic features in CM.
Publisher URL: http://journals.plos.org/plosone/article
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