Abstract:
In this retrospective study, we examined the prevalence and spectrum of germline variants in cancer predisposition genes in 38 children and young adults with melanocytic lesions who underwent germline genetic testing at St. Jude Children’s Research Hospital. Diagnoses included malignant melanoma (n=19; 50%), spitzoid melanoma (n=14; 37%), and uveal melanoma (n=5; 13%). Five patients (13%) harbored pathogenic variants: one with bi-allelic PMS2, and one each with heterozygous 17q21.31 deletion, TP53, BRIP1, andATM pathogenic variants. In this convenience cohort, 13% of children and young adults with melanoma who underwent germline testing harbored an underlying cancer predisposition syndrome.
Introduction Approximately 10% of adults with melanoma harbor a pathogenic or likely pathogenic germline variant (GV) in a cancer predisposing gene.1,2 It is unknown whether similar variants are present in children and young adults with melanoma. The goal of this study was to determine the prevalence and spectrum of GVs in children and young adults with various melanocytic tumors.