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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...

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Autores principales: Cao, Lihong, Tong, Hongyan, Liu, Xing, Xu, Yingqing, Yu, Fang, Pan, Qi, Lai, Jin, Huang, Jian, Qin, Jiayue, Jin, Jie
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
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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.
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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
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