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Intracranial mesenchymal tumor with (novel) COX14::PTEN rearrangement

Mesenchymal tumors of the central nervous system (CNS) include numerous entities, with different pathological features and biological behavior. Mesenchymal non-meningothelial tumors are rare and comprise neoplasms that are exclusive to the CNS or show peculiar features when occurring in the CNS comp...

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Autores principales: d’Amati, Antonio, Gianno, Francesca, Scuccimarri, Luciana, Lastilla, Michele, Messina, Raffaella, Signorelli, Francesco, Zimatore, Domenico Sergio, Barresi, Sabina, Miele, Evelina, Alaggio, Rita, Rossi, Sabrina, Maiorano, Eugenio, Ingravallo, Giuseppe, Giangaspero, Felice, Antonelli, Manila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10262145/
https://www.ncbi.nlm.nih.gov/pubmed/37312212
http://dx.doi.org/10.1186/s40478-023-01596-9
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author d’Amati, Antonio
Gianno, Francesca
Scuccimarri, Luciana
Lastilla, Michele
Messina, Raffaella
Signorelli, Francesco
Zimatore, Domenico Sergio
Barresi, Sabina
Miele, Evelina
Alaggio, Rita
Rossi, Sabrina
Maiorano, Eugenio
Ingravallo, Giuseppe
Giangaspero, Felice
Antonelli, Manila
author_facet d’Amati, Antonio
Gianno, Francesca
Scuccimarri, Luciana
Lastilla, Michele
Messina, Raffaella
Signorelli, Francesco
Zimatore, Domenico Sergio
Barresi, Sabina
Miele, Evelina
Alaggio, Rita
Rossi, Sabrina
Maiorano, Eugenio
Ingravallo, Giuseppe
Giangaspero, Felice
Antonelli, Manila
author_sort d’Amati, Antonio
collection PubMed
description Mesenchymal tumors of the central nervous system (CNS) include numerous entities, with different pathological features and biological behavior. Mesenchymal non-meningothelial tumors are rare and comprise neoplasms that are exclusive to the CNS or show peculiar features when occurring in the CNS compared with other sites. Within this group there are three new entities, classified on the basis of specific molecular alterations and included in the 5th edition of the WHO Classification of CNS Tumors: primary intracranial sarcoma; DICER1-mutant; CIC-rearranged sarcoma; intracranial mesenchymal tumor, FET::CREB fusion-positive. These tumors often show variable morphology, making diagnosis very challenging, although the implementation of molecular techniques has led to better characterization and more precise identification of these entities. However, many molecular alterations have yet to be discovered and some recently reported CNS tumors are currently missing an appropriate classification. Herein, we report the case of a 43-year-old man who presented with an intracranial mesenchymal tumor. Histopathological examination showed a wide spectrum of peculiar morphological features and a non-specific immunohistochemical profile. Whole transcriptome sequencing revealed the presence of a novel genetic rearrangement involving COX14 and PTEN genes, which has never been reported before in any other neoplasm. The tumor did not cluster in any defined methylation class of the brain tumor classifier, but resulted in a calibrated score of 0.89 for the methylation class “Sarcoma, MPNST-like”, when analyzed by the sarcoma classifier. Our study is the first to report about this tumor with unique pathological and molecular features, characterized by a novel rearrangement between COX14 and PTEN genes. Other studies are necessary in order to define it as a new entity or as a novel rearrangement involving recently described and incompletely characterized CNS mesenchymal tumors.
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spelling pubmed-102621452023-06-14 Intracranial mesenchymal tumor with (novel) COX14::PTEN rearrangement d’Amati, Antonio Gianno, Francesca Scuccimarri, Luciana Lastilla, Michele Messina, Raffaella Signorelli, Francesco Zimatore, Domenico Sergio Barresi, Sabina Miele, Evelina Alaggio, Rita Rossi, Sabrina Maiorano, Eugenio Ingravallo, Giuseppe Giangaspero, Felice Antonelli, Manila Acta Neuropathol Commun Case Report Mesenchymal tumors of the central nervous system (CNS) include numerous entities, with different pathological features and biological behavior. Mesenchymal non-meningothelial tumors are rare and comprise neoplasms that are exclusive to the CNS or show peculiar features when occurring in the CNS compared with other sites. Within this group there are three new entities, classified on the basis of specific molecular alterations and included in the 5th edition of the WHO Classification of CNS Tumors: primary intracranial sarcoma; DICER1-mutant; CIC-rearranged sarcoma; intracranial mesenchymal tumor, FET::CREB fusion-positive. These tumors often show variable morphology, making diagnosis very challenging, although the implementation of molecular techniques has led to better characterization and more precise identification of these entities. However, many molecular alterations have yet to be discovered and some recently reported CNS tumors are currently missing an appropriate classification. Herein, we report the case of a 43-year-old man who presented with an intracranial mesenchymal tumor. Histopathological examination showed a wide spectrum of peculiar morphological features and a non-specific immunohistochemical profile. Whole transcriptome sequencing revealed the presence of a novel genetic rearrangement involving COX14 and PTEN genes, which has never been reported before in any other neoplasm. The tumor did not cluster in any defined methylation class of the brain tumor classifier, but resulted in a calibrated score of 0.89 for the methylation class “Sarcoma, MPNST-like”, when analyzed by the sarcoma classifier. Our study is the first to report about this tumor with unique pathological and molecular features, characterized by a novel rearrangement between COX14 and PTEN genes. Other studies are necessary in order to define it as a new entity or as a novel rearrangement involving recently described and incompletely characterized CNS mesenchymal tumors. BioMed Central 2023-06-13 /pmc/articles/PMC10262145/ /pubmed/37312212 http://dx.doi.org/10.1186/s40478-023-01596-9 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
d’Amati, Antonio
Gianno, Francesca
Scuccimarri, Luciana
Lastilla, Michele
Messina, Raffaella
Signorelli, Francesco
Zimatore, Domenico Sergio
Barresi, Sabina
Miele, Evelina
Alaggio, Rita
Rossi, Sabrina
Maiorano, Eugenio
Ingravallo, Giuseppe
Giangaspero, Felice
Antonelli, Manila
Intracranial mesenchymal tumor with (novel) COX14::PTEN rearrangement
title Intracranial mesenchymal tumor with (novel) COX14::PTEN rearrangement
title_full Intracranial mesenchymal tumor with (novel) COX14::PTEN rearrangement
title_fullStr Intracranial mesenchymal tumor with (novel) COX14::PTEN rearrangement
title_full_unstemmed Intracranial mesenchymal tumor with (novel) COX14::PTEN rearrangement
title_short Intracranial mesenchymal tumor with (novel) COX14::PTEN rearrangement
title_sort intracranial mesenchymal tumor with (novel) cox14::pten rearrangement
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10262145/
https://www.ncbi.nlm.nih.gov/pubmed/37312212
http://dx.doi.org/10.1186/s40478-023-01596-9
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