OTHR-13. IDENTIFYING INDIVIDUALS WITH PRIMARY CENTRAL NERVOUS SYSTEM TUMORS AT RISK FOR HEREDITARY CANCER SYNDROMES USING A STATEWIDE CANCER REGISTRY

Abstract

Abstract INTRODUCTION Central Nervous System (CNS) tumors are associated with hereditary cancer syndromes (HCS), especially among pediatric and AYA populations. Using population-based resources, we evaluated the proportion of patients meeting HCS testing criteria. METHODS Cases of CNS tumors diagnosed in individuals ages 0-39 were identified through the Utah Cancer Registry. Using the Utah Population Database, cases were linked to cancer family history and, when available, to HCS genetic data. A genetic counselor and pediatric neuro-oncologist reviewed family pedigrees containing ≥2 CNS tumors. RESULTS We identified 347 CNS tumors in 320 individuals, from 161 families (FSIR P<0.05). The most common tumors were: astrocytoma (n=93), pituitary (n=38), glioma (n=34, 4 optic nerve), glioblastoma (n=32), meningioma (n=31), oligodendroglioma (n=24), and medulloblastoma (n=20). Sixteen individuals had multiple cancers: 9 had ≥ 2 CNS tumors, 7 had CNS and non-CNS tumors. Of those with multiple tumors, 3 met criteria for NF2, 1 for NF1, and 1 for Chompret. 213 individuals (67%) met criteria for HCS testing based on their personal cancer history. Criteria met included glial tumor (< age 40) (n=163), NF2 (n=14), NF1 (n=12), rhabdoid tumor predisposition (n=10), Chompret (n=7), VHL (n=3), medulloblastoma—SHH (n=3), DICER1 (n=1). Germline data were available for 23 individuals, and 14 had a germline mutation (Li Fraumeni Syndrome=8, VHL=3, APC=1, DICER1=1). An additional 12 people met Chompret criteria based on their CNS tumor plus family history. Of these 4 had germline testing, of which 3 had LFS. CONCLUSIONS In our cohort, 70% of individuals met criteria for HCS testing. However, this may be an underestimate because many syndromes associated with CNS tumors also predispose to non-CNS tumors, which were not included in the initial query. Research on the actual prevalence of HCS in individuals with CNS tumors requires germline data in a queryable form in the medical record.