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.