• Anne Deniel, Florent Marguet, Ludivine Beaussire, Anne-Claire Tobenas-Dujardin, Christophe Peillon, Marco-Achille Gambirasio, Ovidiu Veresezan, Nicolas Magne, Frederic Di Fiore, Annie Laquerrière, Nasrin Sarafan-Vasseur, and Maxime Fontanilles.
• Department of Medical Oncology, Cancer Centre Henri Becquerel, Rouen, France.
• World Neurosurg. 2019 Oct 1; 130: 405-409.

BackgroundSpinal 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 DescriptionWe 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.ConclusionsDespite 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.Copyright © 2019 Elsevier Inc. All rights reserved.

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