PTEN R130Q Papillary Tumor of the Pineal Region (PTPR) with Chromosome 10 Loss Successfully Treated with Everolimus: A Case Report.

Papillary tumors of the pineal region (PTPR) can be observed among adults with poor prognosis and high recurrence rates. Standards of therapy involve total surgical excision along with radiation therapy, with no promising prospects for primary adjuvant chemotherapy, as long-term treatment options have not been explored. Chromosome 10 loss is characteristic of PTPR, and PTEN gene alterations are frequently encountered in a wide range of human cancers and may be treated with mTORC1 inhibitors such as everolimus. In parallel, there are no reports of treating PTPR with everolimus alone as a monopharmacotherapy. We report the case of a patient diagnosed with PTPR (grade III) characterized by a PTEN R130Q alteration with chromosome 10 loss that was treated with everolimus pharmacotherapy alone, resulting in an asymptomatic course and tumor regression, a rare yet notable phenomenon not described in the literature so far with potential to alter the management approach to patients with PTPR.

Pediatric Moyamoya Presenting as a Subarachnoid Hemorrhage from a Ruptured Anterior Cerebral Artery Aneurysm.

BACKGROUND: The incidence of Moyamoya disease (MMD)-associated intracranial aneurysms ranges from 3% to 14% in adult patients, whereas this complication has rarely been reported in children. CASE DESCRIPTION: We herein report the first case, to our knowledge, of an extremely rare subarachnoid hemorrhage presentation of a child with a ruptured anterior cerebral artery dissecting aneurysm secondary to a newly discovered, unilateral Moyamoya-like pathology. CONCLUSIONS: MMD-associated aneurysms are extremely rare in children, and hemorrhage may be the initial presentation of the disease. Prompt intervention is essential to exclude the ruptured aneurysm that is at risk of rebleeding because of persistent hemodynamic stress.

A Case Report of Meningeal Hemangiopericytoma: A 9-Year Journey from the Brain to the Spine.

BACKGROUND: Hemangiopericytomas (HPCs) are rare and aggressive vascular mesenchymal tumors. Unlike meningiomas, which have a similar radiologic appearance, these tumors have a higher risk of local recurrence after resection, and distant metastasis can reach up to 23%. Metastases to the vertebral bones from an intracranial HPC are very rare, with so far only 9 cases reported in the literature. CASE DESCRIPTION: We present the case of a 46-year-old man who was surgically treated for a presumed left parieto-occipital falx meningioma in 2008. He presented 9 years later with a thoracic vertebral mass that was causing relentless pain. Reexamination of the cranial pathology allowed correction of the diagnosis performed in 2008 to a meningeal HPC, and the spinal lesion was confirmed after surgery to be a metastatic tumor. CONCLUSIONS: The literature lacks randomized controlled trials and large studies defining the natural history of HPC to draw clear recommendations for a precise management of the disease. However, en bloc resection followed by radiation therapy seems to provide the optimal treatment for a long disease-free survival.

Atypical choroid plexus papilloma treated with single agent bevacizumab.

Choroid plexus papillomas (CPPs) are usually not malignant and occur in less than 1% of brain tumors in patients of all ages. They represent 3% of childhood intracranial neoplasms with a predilection in younger ages. Papillomas have an indolent course and carry a good long-term outcome if gross total surgical resection is achieved. However malignant evolution may occur, with a 10-30% incidence. Chemotherapy has been used with varied degrees of success. Most series are very small, some are only limited to case reports and cannot lead to guidelines or therapeutic recommendations. We are reporting the first case of recurrent CPP treated with 5 mg/kg of bevacizumab administered once every two weeks. Complete patient evaluations with follow-up contrast-enhanced magnetic resonance imaging (MRI) scans were obtained after the initial two treatments and every 8 weeks thereafter. Only after two treatments, the MRI scans showed radiological stabilization of the tumor, and the patient achieved an excellent clinical response with significant resolution of all skin lesions.