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Background Spinal myxopapillary ependymoma (SP-MPE) is a subgroup of ependymomas in which after initial gross tumor resection, recurrences occur in more than half of the patients. Anaplastic transformation may also occur and contributes to intraneural and extraneural metastatic dissemination. Extraneural metastases from SP-MPE are rare and worsen the prognosis. In this situation, the noninvasive detection of recurrent somatic mutations in the circulating tumor DNA (ctDNA) from plasma is challenging. Telomerase-reverse transcriptase gene promoter (TERTp) mutation has been identified in a subset of ependymomas with aggressive behavior. Case Description We report on a patient with TERTp mutated SP-MPE presenting with an extraneural anaplastic metastatic dissemination after iterative local recurrences. From the initial SP-MPE to pleural anaplastic lesion, TERTp C228T mutation was present with allele frequency varying from 33% to 39%. Interestingly, TERTp mutation was also detected by droplet digital polymerase chain reaction in the plasma with a frequency of 2.1% at the time of pleural metastases, highlighting that ctDNA is released in plasma of patients suffering from SP-MPE with extraneural metastatic dissemination. Conclusions Despite the rarity of this evolution, plasmatic liquid biopsy appears to be a useful diagnostic and follow-up tool in a subset of primary brain tumors.

Primary pigmented intracranial neoplasms are strikingly uncommon. The differential diagnosis is limited and includes both epithelial and nonepithelial tumors, most of which arise within or near the ventricular system. The authors describe a 42-year-old man who presented with a pigmented papillary epithelial lesion that arose within the sella and exhibited suprasellar extension and bony erosion. Following external beam radiotherapy and multiple surgical resections, tumor growth became rapid, necessitating additional debulking procedures. Pathologic evaluation of subsequent lesional tissue samples revealed an anaplastic lesion with malignant epithelial and spindle cell components. Occasional epithelial cells showed features reminiscent of the original papillary lesion, whereas others exhibited oncocytic morphologic features. This case represents the only report, to our knowledge, of a pigmented papillary epithelial neoplasm arising within the pituitary fossa. Although the histogenesis of this tumor is enigmatic, this appears to be a distinct lesion characterized by aggressive growth and the capacity for anaplastic progression.

The most frequent type of cerebellar astrocytoma in children is the pilocytic variety, for which the treatment of choice and prognosis are now well established. In contrast, an anaplastic lesion in this site is extremely rare. The authors present four cases of high-grade astrocytoma in a cerebellar site. They discuss the best type of treatment for this pathology, with particular reference to postoperative radiotherapy and chemotherapy, in the light of their results.