SRC Proto-Oncogene Mutation Found in an Adult Atypical Teratoid/Rhabdoid Tumor: A Case Report (P4.224)

OBJECTIVE: Describe a case of an adult atypical teratoid/rhabdoid tumor (ATRT) with a SRC oncogene mutation. BACKGROUND: ATRTs are a World Health Organization Grade IV primary CNS neoplasm with poor outcomes in pediatric patients. ATRTs are rare in adults with fewer than 50 cases reported in the literature. Treatment regimens are derived from pediatric experience with surgical resection, craniospinal radiation, and cytotoxic chemotherapy. DESIGN/METHODS: We describe a 23 year-old-woman who presented with daily headaches and left hemi-ataxia with a 4.8 cm heterogeneously enhancing mass involving the left cerebellar hemisphere and cerebellopontine angle. RESULTS: The patient had a gross total resection of the cerebellar mass. The pathology was consistent with an AT/RT with characteristic rhabdoid cells and negative staining for INI1 in tumor cells. The cerebrospinal fluid was positive for malignant cells. A commercial cancer gene mutation panel revealed an activating mutation in the SRC gene found in nearly 20[percnt] of the tumor cells. The patient completed craniospinal irradiation with a total of 5400cGy, with plans to receive six cycles of adjuvant ICE chemotherapy (ifosfamide, carboplatin and etoposide) with addition of Dasatinib. She is stable after 5 cycles of treatment to date. CONCLUSIONS: ATRTs are exceptionally rare in adult patients. To our knowledge, this is the first reported case of a SRC oncogene mutation in an AT/RT. SRC signaling may represent an actionable treatment target in this aggressive tumor. Disclosure: Dr. Sedarsky has nothing to disclose. Dr. Severson has nothing to disclose. Dr. Cooper has nothing to disclose. Dr. Skinner has nothing to disclose. Dr. Malafronte has nothing to disclose. Dr. Theeler has nothing to disclose.