A Case of Primary Intracranial Sarcoma, DICER1-Mutant, in a Child with a Germline DICER1 Mutation

DICER1 syndrome is a tumor predisposition caused by abnormal micro-RNA processing which leads to variety of benign and malignant neoplasms in many organ systems, including the central nervous system. This paper reports case primary intracranial sarcoma, DICER1-mutant, patient with germline variant thought most likely be de novo. The ten-year-old boy who presented acutely altered level consciousness, emesis, left-sided weakness. Imaging revealed large right frontal hemorrhagic lesion, was urgently debulked. Histology demonstrated high-grade sarcomatous lesion. Molecular studies compound heterozygous variants (a frame shift insertion missense mutation), KRAS mutation. final pathologic diagnosis rendered “primary DICER1-mutant”. Germline genetic testing that possessed (parental negative). A dramatic reduction size precipitated via chemotherapy (ifosfamide, carboplatin, etoposide) radiotherapy (focal proton beam therapy). There no evidence residual disease at site end therapy.