pTERT C250T mutation: A potential biomarker of poor prognosis in metastatic melanoma.

ABSTRACT: Melanoma is the most aggressive form of skin cancer and the leading cause of death from cutaneous tumors. Several studies have associated alterations in the TERT promoter region (pTERT) with gene overexpression, aggressiveness and poor prognosis of the disease. The aim of this study was to clarify the role of pTERT molecular status in paired samples of primary melanoma and metastasis using tissue and plasma to establish a correlation with disease progression and survival. A total of 88 FFPE tissue samples from 53 patients with advanced melanoma were analyzed. Of these, 35 had paired samples. We also examined cfDNA samples from plasma of 25 patients. We detected a good correlation between primary tumors and metastases in pTERT mutation and methylation status. We

SUBMITTER: Blanco-Garcia L 

PROVIDER: S-EPMC10440525 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature