Genetic concordance in melanoma: insights from primary tumors and their matched distant metastases.

ABSTRACT: Melanoma metastasis poses a significant challenge due to its aggressive nature and increasing incidence. Confirming the clonal relationship between the primary melanoma and its metastasis is essential to developing reliable prediction models. Here, we compared the genetic profile of primary melanoma and matched metastasis to assess their genetic clonal relationship. Using a targeted sequencing panel encompassing 330 amplicons, we targeted hotspot regions in 41 cancer genes and 154 single nucleotide polymorphisms. The clonal relation between primary and matched metastasis tumors was evaluated by comparing the mutational status and the copy number variations profile in 15 patients with primarily thin melanomas and distant metastases, or with a long latency between the primary melanoma and di

SUBMITTER: Kerkour T 

PROVIDER: S-EPMC12043267 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature