Medulloblastoma in an Adult Female Patient: A Rare Presentation

Abstract

Introduction: Medulloblastoma is an aggressive CNS malignancy of embryonal origin, mostly located in the vermis of the cerebellum. It commonly affects children and accounts for approximately 30% of pediatric CNS neoplasms, whereas it is rare in adults, with an annual incidence rate of 0.05 per 100,000 per year. It occurs most frequently in men than women Case report: A 28-year-old female with no significant past medical history presented to the emergency department with a complaint of sudden onset frontal headache, different from her migraine headaches, not relieved with Tylenol, denied any associated nausea or vomiting. The physical exam was normal. Computed Tomography (CT) scan of the head without intravenous contrast showed a large right cerebellar mass measuring 2.6 x 4.1 x 2.5 cm, with midline shift in the posterior fossa. Magnetic Resonance Imaging (MRI) of the brain with and without contrast confirmed the findings. The neurosurgery team was on board and the patient underwent right sub-occipital craniotomy with resection of the tumor. Histopathology of the tumor was consistent with classic SHHactivated medulloblastoma (composed of blue cells with focal formation of Homer Wright rosettes) additional molecular was positive for wild type TP53 without any evidence of MYC amplification, positive for GFAP with reactive background astrocytes. The tumor cells showed expression of YAP1 GAB1 and cytoplasmic expression of beta-catenin Given her suboptimal resection with her first surgery, she underwent repeat craniotomy and reresection of the remaining tumor. Postoperative MRI showed no obvious evidence of residual disease, consistent with a gross total resection Post-resection, the patient felt well except for some residual right-hand weakness. The cerebrospinal fluid analysis cytology was negative for malignant cells. According to NCCN guidelines, treatment protocol includes maximal safe resection, followed by adjuvant therapy involving chemotherapy and radiation. The plan was to start the patient on adjuvant craniospinal radiotherapy with concurrent vincristine for a period of eight weeks, followed by maintenance multi agent chemotherapy including cisplatin, lomustine, and vincristine for eight cycles Discussion: Medulloblastoma is found to be associated with multiple rare genetic disorders including Gorlin syndrome Li-Fraumeni syndrome, APC-associated polyposis conditions, and Fanconi anemia. The exact sequence of treatment of adult medulloblastoma is unknown given the rarity of presentation Conclusion: Medulloblastoma is the most common brain tumor in children but is rare in adults. Here, we are reporting an adult female patient with medulloblastoma at the age of 28 years .