1. TERTp Mutation Detection in Plasma by Droplet-Digital Polymerase Chain Reaction in Spinal Myxopapillary Ependymoma with Lung Metastases
- Author
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Frédéric Di Fiore, Ludivine Beaussire, Marco-Achille Gambirasio, Annie Laquerrière, Ovidiu Veresezan, M. Fontanilles, Christophe Peillon, Nasrin Sarafan-Vasseur, Florent Marguet, Nicolas Magne, Anne-Claire Tobenas-Dujardin, Anne Deniel, Department of Pathology, Rouen University Hospital, Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de chirurgie cadiovasculaire et thoracique [Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service de Radiologie [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Département d'oncologie médicale [Rouen], Centre de Lutte Contre le Cancer Henri Becquerel Normandie Rouen (CLCC Henri Becquerel), Endothélium microcirculatoire cérébral et lésions du système nerveux central au cours du développement (Néovasc), Normandie Université (NU)-Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Génétique du cancer et des maladies neuropsychiatriques (GMFC)
- Subjects
Adult ,Pathology ,medicine.medical_specialty ,Lung Neoplasms ,[SDV]Life Sciences [q-bio] ,Extraneural ,medicine.disease_cause ,Polymerase Chain Reaction ,Metastasis ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Biomarkers, Tumor ,Humans ,Digital polymerase chain reaction ,[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology ,Spinal Cord Neoplasms ,Liquid biopsy ,Promoter Regions, Genetic ,Allele frequency ,Telomerase ,ComputingMilieux_MISCELLANEOUS ,Mutation ,business.industry ,DNA, Neoplasm ,medicine.disease ,Reverse transcriptase ,3. Good health ,Anaplastic Lesion ,Ependymoma ,030220 oncology & carcinogenesis ,Surgery ,Female ,Neurology (clinical) ,business ,Cell-Free Nucleic Acids ,030217 neurology & neurosurgery - Abstract
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.
- Published
- 2019
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