Cargando…
Case Report: Pathogenesis With a Rare RHOA A161E Mutation in a Patient With Angioimmunoblastic T-Cell Lymphoma
Angioimmunoblastic T-cell lymphoma (AITL) genomic abnormalities are highly disease-specific, and the ras homology family member A (RHOA) gene is one of the most recurrent mutated genes, especially for RHOA G17V mutation site. Here, we identified a rare RHOA A161E mutation in an AITL patient through...
Autores principales: | , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9330045/ https://www.ncbi.nlm.nih.gov/pubmed/35910204 http://dx.doi.org/10.3389/fgene.2022.948744 |
_version_ | 1784758066056527872 |
---|---|
author | Cao, Lihong Tong, Hongyan Liu, Xing Xu, Yingqing Yu, Fang Pan, Qi Lai, Jin Huang, Jian Qin, Jiayue Jin, Jie |
author_facet | Cao, Lihong Tong, Hongyan Liu, Xing Xu, Yingqing Yu, Fang Pan, Qi Lai, Jin Huang, Jian Qin, Jiayue Jin, Jie |
author_sort | Cao, Lihong |
collection | PubMed |
description | Angioimmunoblastic T-cell lymphoma (AITL) genomic abnormalities are highly disease-specific, and the ras homology family member A (RHOA) gene is one of the most recurrent mutated genes, especially for RHOA G17V mutation site. Here, we identified a rare RHOA A161E mutation in an AITL patient through gene sequencing platforms. The patient presented with persistent hypereosinophilia, asymptomatic or symptomatic mildly for over 3 years. At diagnosis, this patient manifested night sweats, weight loss, multiple lymphadenopathies, and enlargement of the liver and spleen. We performed a retrospective genetic mutation analysis by whole-exome sequencing (WES) and droplet digital PCR (ddPCR) on serial gastric, intestinal, and lymph node specimens. The genetic mutation testing result demonstrated that a rare RHOA A161E mutation was found, which was elevated significantly on diagnosis related to AITL pathogenesis. Our case confirms that genetic mutation testing is helpful for diagnostic classification in AITL and dynamic monitoring of gene mutations at multiple time points may facilitate early detection of disease diagnosis. |
format | Online Article Text |
id | pubmed-9330045 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-93300452022-07-29 Case Report: Pathogenesis With a Rare RHOA A161E Mutation in a Patient With Angioimmunoblastic T-Cell Lymphoma Cao, Lihong Tong, Hongyan Liu, Xing Xu, Yingqing Yu, Fang Pan, Qi Lai, Jin Huang, Jian Qin, Jiayue Jin, Jie Front Genet Genetics Angioimmunoblastic T-cell lymphoma (AITL) genomic abnormalities are highly disease-specific, and the ras homology family member A (RHOA) gene is one of the most recurrent mutated genes, especially for RHOA G17V mutation site. Here, we identified a rare RHOA A161E mutation in an AITL patient through gene sequencing platforms. The patient presented with persistent hypereosinophilia, asymptomatic or symptomatic mildly for over 3 years. At diagnosis, this patient manifested night sweats, weight loss, multiple lymphadenopathies, and enlargement of the liver and spleen. We performed a retrospective genetic mutation analysis by whole-exome sequencing (WES) and droplet digital PCR (ddPCR) on serial gastric, intestinal, and lymph node specimens. The genetic mutation testing result demonstrated that a rare RHOA A161E mutation was found, which was elevated significantly on diagnosis related to AITL pathogenesis. Our case confirms that genetic mutation testing is helpful for diagnostic classification in AITL and dynamic monitoring of gene mutations at multiple time points may facilitate early detection of disease diagnosis. Frontiers Media S.A. 2022-07-14 /pmc/articles/PMC9330045/ /pubmed/35910204 http://dx.doi.org/10.3389/fgene.2022.948744 Text en Copyright © 2022 Cao, Tong, Liu, Xu, Yu, Pan, Lai, Huang, Qin and Jin. 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 Cao, Lihong Tong, Hongyan Liu, Xing Xu, Yingqing Yu, Fang Pan, Qi Lai, Jin Huang, Jian Qin, Jiayue Jin, Jie Case Report: Pathogenesis With a Rare RHOA A161E Mutation in a Patient With Angioimmunoblastic T-Cell Lymphoma |
title | Case Report: Pathogenesis With a Rare RHOA A161E Mutation in a Patient With Angioimmunoblastic T-Cell Lymphoma |
title_full | Case Report: Pathogenesis With a Rare RHOA A161E Mutation in a Patient With Angioimmunoblastic T-Cell Lymphoma |
title_fullStr | Case Report: Pathogenesis With a Rare RHOA A161E Mutation in a Patient With Angioimmunoblastic T-Cell Lymphoma |
title_full_unstemmed | Case Report: Pathogenesis With a Rare RHOA A161E Mutation in a Patient With Angioimmunoblastic T-Cell Lymphoma |
title_short | Case Report: Pathogenesis With a Rare RHOA A161E Mutation in a Patient With Angioimmunoblastic T-Cell Lymphoma |
title_sort | case report: pathogenesis with a rare rhoa a161e mutation in a patient with angioimmunoblastic t-cell lymphoma |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9330045/ https://www.ncbi.nlm.nih.gov/pubmed/35910204 http://dx.doi.org/10.3389/fgene.2022.948744 |
work_keys_str_mv | AT caolihong casereportpathogenesiswithararerhoaa161emutationinapatientwithangioimmunoblastictcelllymphoma AT tonghongyan casereportpathogenesiswithararerhoaa161emutationinapatientwithangioimmunoblastictcelllymphoma AT liuxing casereportpathogenesiswithararerhoaa161emutationinapatientwithangioimmunoblastictcelllymphoma AT xuyingqing casereportpathogenesiswithararerhoaa161emutationinapatientwithangioimmunoblastictcelllymphoma AT yufang casereportpathogenesiswithararerhoaa161emutationinapatientwithangioimmunoblastictcelllymphoma AT panqi casereportpathogenesiswithararerhoaa161emutationinapatientwithangioimmunoblastictcelllymphoma AT laijin casereportpathogenesiswithararerhoaa161emutationinapatientwithangioimmunoblastictcelllymphoma AT huangjian casereportpathogenesiswithararerhoaa161emutationinapatientwithangioimmunoblastictcelllymphoma AT qinjiayue casereportpathogenesiswithararerhoaa161emutationinapatientwithangioimmunoblastictcelllymphoma AT jinjie casereportpathogenesiswithararerhoaa161emutationinapatientwithangioimmunoblastictcelllymphoma |