Genetic and methylation profiles distinguish benign, malignant and spitzoid melanocytic tumors.

ABSTRACT: Accurate classification of melanocytic tumors is important for prognostic evaluation, treatment and follow-up protocols of patients. The majority of melanocytic proliferations can be classified solely based on clinical and pathological criteria, however in select cases a definitive diagnostic assessment remains challenging and additional diagnostic biomarkers would be advantageous. We analyzed melanomas, nevi, Spitz nevi and atypical spitzoid tumors using parallel sequencing (exons of 611 genes and 507 gene translocation analysis) and methylation arrays (850k Illumina EPIC). By combining detailed genetic and epigenetic analysis with reference-based and reference-free DNA methylome deconvolution we compared Spitz nevi to nevi and melanoma and assessed the potential for these methods in clas

SUBMITTER: Zaremba A 

PROVIDER: S-EPMC9474633 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature