Medulloblastoma in an Adult With Late Extraneural Metastases to the Mediastinum.
Bottom Line: Conclusion.Although most common reported sites are bone and bone marrow, late metastases to other unexpected areas like the mediastinum are possible too and warrant awareness.This can be treated with chemotherapy followed by high-dose chemotherapy and stem cell rescue in a young patient with good performance status.
Affiliation: University of Cincinnati, Cincinnati, OH, USA.
Background. Medulloblastoma, although the most common brain tumor of childhood, is exceedingly rare in adults. These tumors have a propensity for local recurrence and to metastasize along the leptomeninges; however, extraneural metastases are very rare and typically occur in the bone or bone marrow. We have not come across any case in literature of medulloblastoma with mediastinal metastases in an adult. Case Presentation. We report a case of medulloblastoma in a 38-year-old lady who was treated with surgery followed by craniospinal radiation. Ten years later she presented with hoarseness from true vocal cord paralysis. She was diagnosed to have infiltrating metastases of her medulloblastoma to the mediastinum, which was confirmed by biopsy. There was no local recurrence. This was treated with chemotherapy followed by stem cell rescue, and she remained progression free for 2 years. Conclusion. Medulloblastomas are rare in adults and can present with late extraneural metastases following treatment. Although most common reported sites are bone and bone marrow, late metastases to other unexpected areas like the mediastinum are possible too and warrant awareness. This can be treated with chemotherapy followed by high-dose chemotherapy and stem cell rescue in a young patient with good performance status.
No MeSH data available.
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Mentions: A 38-year-old woman presented to the emergency department complaining of worsening headaches, visual disturbances, nausea, and vomiting, with difficulty in gait and coordination over the previous 4 to 5 months. The problems were worst early in the morning. Examination showed dysmetria, bilateral nystagmus on lateral gaze, normal motor strength, and normal reflexes throughout with no sensory deficits. Visual fields were normal. Magnetic resonance imaging (MRI) showed a large left cerebellar tumor with Chiari 1 malformation and mild hydrocephalus. On further staging, there was no evidence of metastasis. She was begun on corticosteroids and underwent a left suboccipital craniectomy and excision of the tumor. Pathology showed a densely cellular and infiltrative tumor composed of cells with round to oval basophilic, nuclei, and scant pink cytoplasm. It infiltrated to the cortical surface and in several areas was arranged in variably sized nodules. Immunohistochemistry for glial fibrillary acidic protein (GFAP) and neuron-specific enolase (NSE) revealed scattered positive cells. The tumor was consistent with classic medulloblastoma with high MIB1 proliferative activity >10%. She was classified as standard risk for recurrence. Analysis of molecular markers was not done as its role was not established then. Postoperatively she received 36 Gy craniospinal radiation with an 18 Gy boost to the posterior fossa followed by adjuvant chemotherapy with carboplatin and etoposide. She did well for 10 years until she presented with generalized weakness and hoarseness. ENT evaluation demonstrated left true vocal cord paralysis. Computed tomography (CT) showed a 4.2 × 6.8 cm infiltrating mass that surrounded and extrinsically compressed the left main pulmonary artery, left mainstem bronchus, and distal trachea. The mass was inseparable from the aortic arch and involved the left hilar, subcarinal, pretracheal, and right paratracheal nodes (Figure 1). Positron emission tomography (PET)/CT showed 18FDG-avid masses involving the left lower lobe, left hilum, and mediastinum, and bilateral supraclavicular lymph nodes. Excisional biopsy of a left supraclavicular lymph node showed metastatic high-grade round blue cell malignant neoplasm positive for GFAP, NSE, and synaptophysin (Figure 2). After comparison to the original biopsy, a diagnosis of metastatic medulloblastoma was rendered. MRI of the head and spine showed no evidence of tumor or metastases in the central nervous system. She was treated with 3 cycles of weekly cisplatin 30 mg/m2 and irinotecan 65 mg/m2 after which PET scan showed a compete response. This was followed by high-dose carboplatin, thiotepa, and etoposide conditioning followed by autologous stem cell transplant. She tolerated the treatment well and achieved a complete response. Two years later, PET/CT showed increased activity in the mediastinum and supraclavicular lymph nodes. A biopsy confirmed relapse. She was treated with 6 cycles of carboplatin AUC 4 and gemcitabine 1000 mg/m2 every 21 days. After showing an initial response to the chemotherapy, PET/CT showed tumor progression in the aforementioned sites. She was treated with 50.4 Gy intensity modulated radiotherapy. The mass showed a partial response that has been stable for 4 months.
No MeSH data available.