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Paediatric Erdheim-Chester Disease in the Lateral Ventricle: A Case Report and Review of the Literature

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis caused by the expression of CD68-positive and CD1a-negative foam tissue cells, which is polar in pediatric patients. The study reports a case of an 8-year-old Chinese boy who presented with polydipsia and polyuria for 4 years,...

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Autores principales: Ma, Yimei, Guo, Xia, Wan, Zhi, Liu, Hanmin, Gao, Ju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9046972/
https://www.ncbi.nlm.nih.gov/pubmed/35494046
http://dx.doi.org/10.3389/fonc.2022.835076
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author Ma, Yimei
Guo, Xia
Wan, Zhi
Liu, Hanmin
Gao, Ju
author_facet Ma, Yimei
Guo, Xia
Wan, Zhi
Liu, Hanmin
Gao, Ju
author_sort Ma, Yimei
collection PubMed
description Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis caused by the expression of CD68-positive and CD1a-negative foam tissue cells, which is polar in pediatric patients. The study reports a case of an 8-year-old Chinese boy who presented with polydipsia and polyuria for 4 years, followed by central nervous system symptoms. Magnetic resonance imaging (MRI) showed a large lesion in the lateral ventricle. The histiocytes stained positively for CD68, CD163 and negatively for CD1a, glial fibrillary acidic protein (GFAP) and langerin, and were partially positive for S100 by immunohistochemical assay. More importantly, BRAFV(600E) staining was positive in tissue, and the BRAF(V600E) mutations was also detected by real-time quantitative PCR (RT-qPCR) in the intracranial lesion tissue. According to our review of the literature, this is a rare case of ECD in the ventricle, with a younger age.
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spelling pubmed-90469722022-04-29 Paediatric Erdheim-Chester Disease in the Lateral Ventricle: A Case Report and Review of the Literature Ma, Yimei Guo, Xia Wan, Zhi Liu, Hanmin Gao, Ju Front Oncol Oncology Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis caused by the expression of CD68-positive and CD1a-negative foam tissue cells, which is polar in pediatric patients. The study reports a case of an 8-year-old Chinese boy who presented with polydipsia and polyuria for 4 years, followed by central nervous system symptoms. Magnetic resonance imaging (MRI) showed a large lesion in the lateral ventricle. The histiocytes stained positively for CD68, CD163 and negatively for CD1a, glial fibrillary acidic protein (GFAP) and langerin, and were partially positive for S100 by immunohistochemical assay. More importantly, BRAFV(600E) staining was positive in tissue, and the BRAF(V600E) mutations was also detected by real-time quantitative PCR (RT-qPCR) in the intracranial lesion tissue. According to our review of the literature, this is a rare case of ECD in the ventricle, with a younger age. Frontiers Media S.A. 2022-04-14 /pmc/articles/PMC9046972/ /pubmed/35494046 http://dx.doi.org/10.3389/fonc.2022.835076 Text en Copyright © 2022 Ma, Guo, Wan, Liu and Gao 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 Oncology
Ma, Yimei
Guo, Xia
Wan, Zhi
Liu, Hanmin
Gao, Ju
Paediatric Erdheim-Chester Disease in the Lateral Ventricle: A Case Report and Review of the Literature
title Paediatric Erdheim-Chester Disease in the Lateral Ventricle: A Case Report and Review of the Literature
title_full Paediatric Erdheim-Chester Disease in the Lateral Ventricle: A Case Report and Review of the Literature
title_fullStr Paediatric Erdheim-Chester Disease in the Lateral Ventricle: A Case Report and Review of the Literature
title_full_unstemmed Paediatric Erdheim-Chester Disease in the Lateral Ventricle: A Case Report and Review of the Literature
title_short Paediatric Erdheim-Chester Disease in the Lateral Ventricle: A Case Report and Review of the Literature
title_sort paediatric erdheim-chester disease in the lateral ventricle: a case report and review of the literature
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9046972/
https://www.ncbi.nlm.nih.gov/pubmed/35494046
http://dx.doi.org/10.3389/fonc.2022.835076
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