GERMLINE GENOMIC FINDINGS IN CHILDREN AND YOUNG ADULTS WITH MELANOCYTIC TUMORS

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.