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GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular Tumors
Cutaneous vascular tumors consist of a heterogeneous group of benign proliferations, including a range of hemangiomas and vascular malformations, as well as heterogeneous groups of both borderline and malignant neoplasms such as Kaposi’s sarcoma and angiosarcomas. The genetics of these tumors have b...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8141909/ https://www.ncbi.nlm.nih.gov/pubmed/34040639 http://dx.doi.org/10.3389/fgene.2021.663272 |
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author | Jansen, Philipp Müller, Hansgeorg Lodde, Georg C. Zaremba, Anne Möller, Inga Sucker, Antje Paschen, Annette Esser, Stefan Schaller, Jörg Gunzer, Matthias Standl, Fabian Bauer, Sebastian Schadendorf, Dirk Mentzel, Thomas Hadaschik, Eva Griewank, Klaus G. |
author_facet | Jansen, Philipp Müller, Hansgeorg Lodde, Georg C. Zaremba, Anne Möller, Inga Sucker, Antje Paschen, Annette Esser, Stefan Schaller, Jörg Gunzer, Matthias Standl, Fabian Bauer, Sebastian Schadendorf, Dirk Mentzel, Thomas Hadaschik, Eva Griewank, Klaus G. |
author_sort | Jansen, Philipp |
collection | PubMed |
description | Cutaneous vascular tumors consist of a heterogeneous group of benign proliferations, including a range of hemangiomas and vascular malformations, as well as heterogeneous groups of both borderline and malignant neoplasms such as Kaposi’s sarcoma and angiosarcomas. The genetics of these tumors have been assessed independently in smaller individual cohorts making comparisons difficult. In our study, we analyzed a representative cohort of benign vascular proliferations observed in a clinical routine setting as well as a selection of malignant vascular proliferations. Our cohort of 104 vascular proliferations including hemangiomas, malformations, angiosarcomas and Kaposi’s sarcoma were screened by targeted next-generation sequencing for activating genetic mutations known or assumed to be potentially relevant in vascular proliferations. An association analysis was performed for mutation status and clinico-pathological parameters. Frequent activating hotspot mutations in GNA genes, including GNA14 Q205, GNA11 and GNAQ Q209 were identified in 16 of 64 benign vascular tumors (25%). GNA gene mutations were particularly frequent (52%) in cherry (senile) hemangiomas (13 of 25). In angiosarcomas, activating RAS mutations (HRAS and NRAS) were identified in three samples (16%). No activating GNA or RAS gene mutations were identified in Kaposi’s sarcomas. Our study identifies GNA14 Q205, GNA11 and GNAQ Q209 mutations as being the most common and mutually exclusive mutations in benign hemangiomas. These mutations were not identified in malignant vascular tumors, which could be of potential diagnostic value in distinguishing these entities. |
format | Online Article Text |
id | pubmed-8141909 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-81419092021-05-25 GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular Tumors Jansen, Philipp Müller, Hansgeorg Lodde, Georg C. Zaremba, Anne Möller, Inga Sucker, Antje Paschen, Annette Esser, Stefan Schaller, Jörg Gunzer, Matthias Standl, Fabian Bauer, Sebastian Schadendorf, Dirk Mentzel, Thomas Hadaschik, Eva Griewank, Klaus G. Front Genet Genetics Cutaneous vascular tumors consist of a heterogeneous group of benign proliferations, including a range of hemangiomas and vascular malformations, as well as heterogeneous groups of both borderline and malignant neoplasms such as Kaposi’s sarcoma and angiosarcomas. The genetics of these tumors have been assessed independently in smaller individual cohorts making comparisons difficult. In our study, we analyzed a representative cohort of benign vascular proliferations observed in a clinical routine setting as well as a selection of malignant vascular proliferations. Our cohort of 104 vascular proliferations including hemangiomas, malformations, angiosarcomas and Kaposi’s sarcoma were screened by targeted next-generation sequencing for activating genetic mutations known or assumed to be potentially relevant in vascular proliferations. An association analysis was performed for mutation status and clinico-pathological parameters. Frequent activating hotspot mutations in GNA genes, including GNA14 Q205, GNA11 and GNAQ Q209 were identified in 16 of 64 benign vascular tumors (25%). GNA gene mutations were particularly frequent (52%) in cherry (senile) hemangiomas (13 of 25). In angiosarcomas, activating RAS mutations (HRAS and NRAS) were identified in three samples (16%). No activating GNA or RAS gene mutations were identified in Kaposi’s sarcomas. Our study identifies GNA14 Q205, GNA11 and GNAQ Q209 mutations as being the most common and mutually exclusive mutations in benign hemangiomas. These mutations were not identified in malignant vascular tumors, which could be of potential diagnostic value in distinguishing these entities. Frontiers Media S.A. 2021-04-30 /pmc/articles/PMC8141909/ /pubmed/34040639 http://dx.doi.org/10.3389/fgene.2021.663272 Text en Copyright © 2021 Jansen, Müller, Lodde, Zaremba, Möller, Sucker, Paschen, Esser, Schaller, Gunzer, Standl, Bauer, Schadendorf, Mentzel, Hadaschik and Griewank. 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 | Genetics Jansen, Philipp Müller, Hansgeorg Lodde, Georg C. Zaremba, Anne Möller, Inga Sucker, Antje Paschen, Annette Esser, Stefan Schaller, Jörg Gunzer, Matthias Standl, Fabian Bauer, Sebastian Schadendorf, Dirk Mentzel, Thomas Hadaschik, Eva Griewank, Klaus G. GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular Tumors |
title | GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular Tumors |
title_full | GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular Tumors |
title_fullStr | GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular Tumors |
title_full_unstemmed | GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular Tumors |
title_short | GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular Tumors |
title_sort | gna14, gna11, and gnaq mutations are frequent in benign but not malignant cutaneous vascular tumors |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8141909/ https://www.ncbi.nlm.nih.gov/pubmed/34040639 http://dx.doi.org/10.3389/fgene.2021.663272 |
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