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, and
ATM pathogenic variants. In this convenience
cohort, 13% of children and young adults with melanoma who underwent
germline testing harbored an underlying cancer predisposition syndrome.