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Adult Langerhans Cell Histiocytosis and the Skeleton

Langerhans cell histiocytosis (LCH) is a rare inflammatory neoplasia in which somatic mutations in components of the MAPK/ERK pathway have been identified. Osseous involvement is evident in approximately 80% of all patients and may present as a single osteolytic lesion, as a multi-ostotic single sys...

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Autores principales: Georgakopoulou, Danae, Anastasilakis, Athanasios D., Makras, Polyzois
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8875624/
https://www.ncbi.nlm.nih.gov/pubmed/35207181
http://dx.doi.org/10.3390/jcm11040909
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author Georgakopoulou, Danae
Anastasilakis, Athanasios D.
Makras, Polyzois
author_facet Georgakopoulou, Danae
Anastasilakis, Athanasios D.
Makras, Polyzois
author_sort Georgakopoulou, Danae
collection PubMed
description Langerhans cell histiocytosis (LCH) is a rare inflammatory neoplasia in which somatic mutations in components of the MAPK/ERK pathway have been identified. Osseous involvement is evident in approximately 80% of all patients and may present as a single osteolytic lesion, as a multi-ostotic single system disease or as part of multisystem disease. Both exogenous, such as treatment with glucocorticoids, and endogenous parameters, such as anterior pituitary hormone deficiencies and inflammatory cytokines, may severely affect bone metabolism in LCH. Computed tomography (CT) or magnetic resonance imaging (MRI) are usually required to precisely assess the degree of bone involvement; 18F-fluorodeoxyglucose (FDG) positron emission tomography—CT can both detect otherwise undetectable LCH lesions and differentiate metabolically active from inactive or resolved disease, while concomitantly being useful in the assessment of treatment response. Treatment of skeletal involvement may vary depending on location, extent, size, and symptoms of the disease from close observation and follow-up in unifocal single-system disease to chemotherapy and gene-targeted treatment in cases with multisystem involvement. In any case of osseous involvement, bisphosphonates might be considered as a treatment option especially if pain relief is urgently needed. Finally, a patient-specific approach is suggested to avoid unnecessary extensive surgical interventions and/or medical overtreatment.
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spelling pubmed-88756242022-02-26 Adult Langerhans Cell Histiocytosis and the Skeleton Georgakopoulou, Danae Anastasilakis, Athanasios D. Makras, Polyzois J Clin Med Review Langerhans cell histiocytosis (LCH) is a rare inflammatory neoplasia in which somatic mutations in components of the MAPK/ERK pathway have been identified. Osseous involvement is evident in approximately 80% of all patients and may present as a single osteolytic lesion, as a multi-ostotic single system disease or as part of multisystem disease. Both exogenous, such as treatment with glucocorticoids, and endogenous parameters, such as anterior pituitary hormone deficiencies and inflammatory cytokines, may severely affect bone metabolism in LCH. Computed tomography (CT) or magnetic resonance imaging (MRI) are usually required to precisely assess the degree of bone involvement; 18F-fluorodeoxyglucose (FDG) positron emission tomography—CT can both detect otherwise undetectable LCH lesions and differentiate metabolically active from inactive or resolved disease, while concomitantly being useful in the assessment of treatment response. Treatment of skeletal involvement may vary depending on location, extent, size, and symptoms of the disease from close observation and follow-up in unifocal single-system disease to chemotherapy and gene-targeted treatment in cases with multisystem involvement. In any case of osseous involvement, bisphosphonates might be considered as a treatment option especially if pain relief is urgently needed. Finally, a patient-specific approach is suggested to avoid unnecessary extensive surgical interventions and/or medical overtreatment. MDPI 2022-02-09 /pmc/articles/PMC8875624/ /pubmed/35207181 http://dx.doi.org/10.3390/jcm11040909 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Georgakopoulou, Danae
Anastasilakis, Athanasios D.
Makras, Polyzois
Adult Langerhans Cell Histiocytosis and the Skeleton
title Adult Langerhans Cell Histiocytosis and the Skeleton
title_full Adult Langerhans Cell Histiocytosis and the Skeleton
title_fullStr Adult Langerhans Cell Histiocytosis and the Skeleton
title_full_unstemmed Adult Langerhans Cell Histiocytosis and the Skeleton
title_short Adult Langerhans Cell Histiocytosis and the Skeleton
title_sort adult langerhans cell histiocytosis and the skeleton
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8875624/
https://www.ncbi.nlm.nih.gov/pubmed/35207181
http://dx.doi.org/10.3390/jcm11040909
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