INNV-05. CO-OCCURRENCES OF A HIGH-GRADE GLIOMA WITH CAVERNOUS MALFORMATIONS AND PATHOGENIC VARIANTS IN PDCD10 AND SMARCA4

Abstract INTRODUCTION The co-occurrence of multiple disease processes can make for more challenging diagnoses. Here we report an unusual case a patient found to have IDH1-mutant high-grade glioma along with cerebral cavernous malformations and pathogenic germline variants in PDCD10 SMARCA4. Case Description: A 17-year-old female presented left arm paresthesia weakness persistent headaches within the frontal occipital regions that progressed intensity include nausea emesis. fast sequence magnetic resonance imaging (MRI) her head was obtained revealed presence bilateral cystic lesions suspicious cavernomas most notable lesion right parietal lobe. Ophthalmology consultation grade III papilledema bilaterally. full brain MRI without contrast demonstrated anterior lobe associated mass effect, as well supratentorial cerebellar malformations. underwent tumor debulking dominant lesion. Pathology IDH1 mutant diffuse astrocytoma, WHO 3. Germline genetic testing pursued which variant consistent familial malformation syndrome likely Treatment high-grade-glioma included radiation therapy followed by maintenance oral temozolomide. DISCUSSION This illustrates co-occurrences Our continues do clinically, but because now significant risk developing ovarian cancer she has elected undergo prophylactic salpingo-oophorectomy. Recognition abnormal results is critical setting play crucial role on-going care patient.