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Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis
Langerhans cell histiocytosis (LCH) is characterized by mutations of the RAS-RAF-MAPK signaling pathway. We analyzed MAP2K1, NRAS and KIT mutation incidence in skin lesions of BRAF wild-type (wt) LCH patients. We evaluated the occurrence of MAP2K1, NRAS and KIT mutations in seven LCH and one indeter...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Springer Berlin Heidelberg
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581584/ https://www.ncbi.nlm.nih.gov/pubmed/32372223 http://dx.doi.org/10.1007/s00428-020-02820-w |
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author | Tóth, Béla Kiss, Norbert Hársing, Judit Kárpáti, Sarolta Csomor, Judit Bödör, Csaba Tímár, József Rásó, Erzsébet |
author_facet | Tóth, Béla Kiss, Norbert Hársing, Judit Kárpáti, Sarolta Csomor, Judit Bödör, Csaba Tímár, József Rásó, Erzsébet |
author_sort | Tóth, Béla |
collection | PubMed |
description | Langerhans cell histiocytosis (LCH) is characterized by mutations of the RAS-RAF-MAPK signaling pathway. We analyzed MAP2K1, NRAS and KIT mutation incidence in skin lesions of BRAF wild-type (wt) LCH patients. We evaluated the occurrence of MAP2K1, NRAS and KIT mutations in seven LCH and one indeterminate cell histiocytosis (ICH) patients. MAP2K1 mutation frequency was found to be 3/7 (42.9%) in LCH and also found in ICH. Similarly, the KIT mutation frequency was found to be equally prevalent (4/7, 57.1%) in LCH and also occurred in ICH. Involvement of KIT exons in LCH-ICH indicated that exon 9/11/18 were equally prevalent followed by exon 13. This exploratory analysis on BRAF-wt LCH revealed a KIT mutation rate comparable to MAP2K1. Although the detected KIT mutations are different from activating mutations found in other KIT-dependent neoplasms, our data suggest that KIT-inhibitors might have a role in treating BRAF-wt LCH patients. |
format | Online Article Text |
id | pubmed-7581584 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-75815842020-10-27 Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis Tóth, Béla Kiss, Norbert Hársing, Judit Kárpáti, Sarolta Csomor, Judit Bödör, Csaba Tímár, József Rásó, Erzsébet Virchows Arch Brief Report Langerhans cell histiocytosis (LCH) is characterized by mutations of the RAS-RAF-MAPK signaling pathway. We analyzed MAP2K1, NRAS and KIT mutation incidence in skin lesions of BRAF wild-type (wt) LCH patients. We evaluated the occurrence of MAP2K1, NRAS and KIT mutations in seven LCH and one indeterminate cell histiocytosis (ICH) patients. MAP2K1 mutation frequency was found to be 3/7 (42.9%) in LCH and also found in ICH. Similarly, the KIT mutation frequency was found to be equally prevalent (4/7, 57.1%) in LCH and also occurred in ICH. Involvement of KIT exons in LCH-ICH indicated that exon 9/11/18 were equally prevalent followed by exon 13. This exploratory analysis on BRAF-wt LCH revealed a KIT mutation rate comparable to MAP2K1. Although the detected KIT mutations are different from activating mutations found in other KIT-dependent neoplasms, our data suggest that KIT-inhibitors might have a role in treating BRAF-wt LCH patients. Springer Berlin Heidelberg 2020-05-05 2020 /pmc/articles/PMC7581584/ /pubmed/32372223 http://dx.doi.org/10.1007/s00428-020-02820-w Text en © The Author(s) 2020 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/. |
spellingShingle | Brief Report Tóth, Béla Kiss, Norbert Hársing, Judit Kárpáti, Sarolta Csomor, Judit Bödör, Csaba Tímár, József Rásó, Erzsébet Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis |
title | Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis |
title_full | Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis |
title_fullStr | Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis |
title_full_unstemmed | Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis |
title_short | Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis |
title_sort | frequent kit mutations in skin lesions of patients with braf wild-type langerhans cell histiocytosis |
topic | Brief Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581584/ https://www.ncbi.nlm.nih.gov/pubmed/32372223 http://dx.doi.org/10.1007/s00428-020-02820-w |
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