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Extra-neural metastases in pediatric diffuse midline gliomas, H3 K27-altered: presentation of two cases and literature review
INTRODUCTION: Pediatric diffuse midline gliomas (DMG), H3 K27- altered, are the most aggressive pediatric central nervous system (CNS) malignancies. Disease outcome is dismal with a median survival of less than one year. Extra-neural metastases are an unusual occurrence in DMG and have been rarely d...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10398382/ https://www.ncbi.nlm.nih.gov/pubmed/37547920 http://dx.doi.org/10.3389/fnmol.2023.1152430 |
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author | De Martino, Lucia Picariello, Stefania Russo, Carmela Errico, Maria Elena Spennato, Pietro Papa, Maria Rosaria Normanno, Nicola Scimone, Giuseppe Colafati, Giovanna Stefania Cacchione, Antonella Mastronuzzi, Angela Massimino, Maura Cinalli, Giuseppe Quaglietta, Lucia |
author_facet | De Martino, Lucia Picariello, Stefania Russo, Carmela Errico, Maria Elena Spennato, Pietro Papa, Maria Rosaria Normanno, Nicola Scimone, Giuseppe Colafati, Giovanna Stefania Cacchione, Antonella Mastronuzzi, Angela Massimino, Maura Cinalli, Giuseppe Quaglietta, Lucia |
author_sort | De Martino, Lucia |
collection | PubMed |
description | INTRODUCTION: Pediatric diffuse midline gliomas (DMG), H3 K27- altered, are the most aggressive pediatric central nervous system (CNS) malignancies. Disease outcome is dismal with a median survival of less than one year. Extra-neural metastases are an unusual occurrence in DMG and have been rarely described. METHODS AND RESULTS: Here, we report on two pediatric patients affected by DMG with extra-neural dissemination. Their clinical, imaging, and molecular characteristics are reported here. An 11-year-old male 5 months after the diagnosis of diffuse intrinsic pontine glioma (DIPG) developed metastatic osseous lesions confirmed with computed tomography (CT) guided biopsy of the left iliac bone. The patient died one month after the evidence of metastatic progression. Another 11-year-old female was diagnosed with a cerebellar H3K27- altered DMG. After six months, she developed diffuse sclerotic osseous lesions. A CT-guided biopsy of the right iliac bone was non-diagnostic. She further developed multifocal chest and abdominal lymphadenopathy and pleural effusions. Droplet digital polymerase chain reaction (ddPCR) on pleural effusion revealed the presence of H3.3A mutation (c.83A>T, p.K28M). The patient died 24 months after the diagnosis of DMG and 3 months after the evidence of metastatic pleural effusion. DISCUSSION: Extra-neural metastasis of DMG is a rare event and no standard therapy exists. An accurate and early diagnosis is necessary in order to develop a personalized plan of treatment. Further research is needed to gain further insights into the molecular pathology of DMG, H3K27- altered and improve the quality of life and the final outcome of patients with this deadly disease. |
format | Online Article Text |
id | pubmed-10398382 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-103983822023-08-04 Extra-neural metastases in pediatric diffuse midline gliomas, H3 K27-altered: presentation of two cases and literature review De Martino, Lucia Picariello, Stefania Russo, Carmela Errico, Maria Elena Spennato, Pietro Papa, Maria Rosaria Normanno, Nicola Scimone, Giuseppe Colafati, Giovanna Stefania Cacchione, Antonella Mastronuzzi, Angela Massimino, Maura Cinalli, Giuseppe Quaglietta, Lucia Front Mol Neurosci Molecular Neuroscience INTRODUCTION: Pediatric diffuse midline gliomas (DMG), H3 K27- altered, are the most aggressive pediatric central nervous system (CNS) malignancies. Disease outcome is dismal with a median survival of less than one year. Extra-neural metastases are an unusual occurrence in DMG and have been rarely described. METHODS AND RESULTS: Here, we report on two pediatric patients affected by DMG with extra-neural dissemination. Their clinical, imaging, and molecular characteristics are reported here. An 11-year-old male 5 months after the diagnosis of diffuse intrinsic pontine glioma (DIPG) developed metastatic osseous lesions confirmed with computed tomography (CT) guided biopsy of the left iliac bone. The patient died one month after the evidence of metastatic progression. Another 11-year-old female was diagnosed with a cerebellar H3K27- altered DMG. After six months, she developed diffuse sclerotic osseous lesions. A CT-guided biopsy of the right iliac bone was non-diagnostic. She further developed multifocal chest and abdominal lymphadenopathy and pleural effusions. Droplet digital polymerase chain reaction (ddPCR) on pleural effusion revealed the presence of H3.3A mutation (c.83A>T, p.K28M). The patient died 24 months after the diagnosis of DMG and 3 months after the evidence of metastatic pleural effusion. DISCUSSION: Extra-neural metastasis of DMG is a rare event and no standard therapy exists. An accurate and early diagnosis is necessary in order to develop a personalized plan of treatment. Further research is needed to gain further insights into the molecular pathology of DMG, H3K27- altered and improve the quality of life and the final outcome of patients with this deadly disease. Frontiers Media S.A. 2023-07-20 /pmc/articles/PMC10398382/ /pubmed/37547920 http://dx.doi.org/10.3389/fnmol.2023.1152430 Text en Copyright © 2023 De Martino, Picariello, Russo, Errico, Spennato, Papa, Normanno, Scimone, Colafati, Cacchione, Mastronuzzi, Massimino, Cinalli and Quaglietta. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Molecular Neuroscience De Martino, Lucia Picariello, Stefania Russo, Carmela Errico, Maria Elena Spennato, Pietro Papa, Maria Rosaria Normanno, Nicola Scimone, Giuseppe Colafati, Giovanna Stefania Cacchione, Antonella Mastronuzzi, Angela Massimino, Maura Cinalli, Giuseppe Quaglietta, Lucia Extra-neural metastases in pediatric diffuse midline gliomas, H3 K27-altered: presentation of two cases and literature review |
title | Extra-neural metastases in pediatric diffuse midline gliomas, H3 K27-altered: presentation of two cases and literature review |
title_full | Extra-neural metastases in pediatric diffuse midline gliomas, H3 K27-altered: presentation of two cases and literature review |
title_fullStr | Extra-neural metastases in pediatric diffuse midline gliomas, H3 K27-altered: presentation of two cases and literature review |
title_full_unstemmed | Extra-neural metastases in pediatric diffuse midline gliomas, H3 K27-altered: presentation of two cases and literature review |
title_short | Extra-neural metastases in pediatric diffuse midline gliomas, H3 K27-altered: presentation of two cases and literature review |
title_sort | extra-neural metastases in pediatric diffuse midline gliomas, h3 k27-altered: presentation of two cases and literature review |
topic | Molecular Neuroscience |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10398382/ https://www.ncbi.nlm.nih.gov/pubmed/37547920 http://dx.doi.org/10.3389/fnmol.2023.1152430 |
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