GENE-04. CHARACTERISTICS OF PATIENTS WITH A PRIMARY BRAIN TUMOR UNDERGOING HEREDITARY CANCER MULTI-GENE PANEL TESTING

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Currently, no germline genetic testing guidelines exist for patients with a primary brain tumor (PBT). Patient-specific characteristics of PBT patients in relation to genetic etiology are understudied; therefore we aimed to describe these variables based on hereditary cancer multi-gene panel test (MGPT) results among patients with a PBT. A total of 654 consecutive subjects were referred for MGPT at a diagnostic laboratory between March 2012-June 2016. Clinical data were ascertained from test requisition forms. Statistical analyses were completed using STATA (v.13, College Station, TX). In our cohort, 67% (339/506) were diagnosed under 50 years of age. MGPT identified 104/654 (16%) patients with germline mutations. Of these, 35 (34%) had an isolated PBT with no additional primary cancers. Half of identified genes predisposed a risk to PBTs, while the other half did not. Test result positive astrocytomas were diagnosed at significantly younger ages than patients with negative and variant of uncertain significance results (p=0.021). No association between tumor grade and genetic testing outcome was observed. Of 165 patients with available family history, 95% (n=157) reported a family history of some cancer and 18% (n=30) reported family history of brain tumors. While no germline genetic testing criteria currently exist for PBTs, our data suggest younger age of diagnosis is being utilized as an indicator for testing. Particular PBT pathologies have been associated with specific hereditary cancer syndromes; therefore, pathology can be helpful in narrowing down the differential diagnosis. In addition, more research is necessary to better understand the relationship between tumor grade and testing outcomes. Family history evaluation of both PBTs and systemic cancer is a beneficial risk assessment tool, particularly until testing criteria are developed. Further research is necessary for the development of solidified genetic testing criteria in the PBT population and more robust identification of at-risk individuals.

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