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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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-07-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.948744/full |
| _version_ | 1811296759030218752 |
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| author | Lihong Cao Hongyan Tong Xing Liu Yingqing Xu Fang Yu Qi Pan Jin Lai Jian Huang Jiayue Qin Jie Jin |
| author_facet | Lihong Cao Hongyan Tong Xing Liu Yingqing Xu Fang Yu Qi Pan Jin Lai Jian Huang Jiayue Qin Jie Jin |
| author_sort | Lihong Cao |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-13T05:54:11Z |
| format | Article |
| id | doaj.art-84d4e089c8e0479995f9dce9f16319fc |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-13T05:54:11Z |
| publishDate | 2022-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-84d4e089c8e0479995f9dce9f16319fc2022-12-22T02:59:41ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-07-011310.3389/fgene.2022.948744948744Case Report: Pathogenesis With a Rare RHOA A161E Mutation in a Patient With Angioimmunoblastic T-Cell LymphomaLihong Cao0Hongyan Tong1Xing Liu2Yingqing Xu3Fang Yu4Qi Pan5Jin Lai6Jian Huang7Jiayue Qin8Jie Jin9Department of Hematology, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou, ChinaDepartment of Hematology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, ChinaDepartment of Pathology, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou, ChinaDepartment of Clinical Laboratory, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou, ChinaDepartment of Pathology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, ChinaDepartment of Hematology, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou, ChinaDepartment of Hematology, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou, ChinaDepartment of Hematology, The Fourth Affiliated Hospital of Zhejiang University, Yiwu, ChinaAcornmed Biotechnology Co., Ltd., Tianjin, ChinaDepartment of Hematology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, ChinaAngioimmunoblastic 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.https://www.frontiersin.org/articles/10.3389/fgene.2022.948744/fullangioimmunoblastic T-cell lymphomahypereosinophiliaRHOA A161E mutationvariant allele frequencycase report |
| spellingShingle | Lihong Cao Hongyan Tong Xing Liu Yingqing Xu Fang Yu Qi Pan Jin Lai Jian Huang Jiayue Qin Jie Jin Case Report: Pathogenesis With a Rare RHOA A161E Mutation in a Patient With Angioimmunoblastic T-Cell Lymphoma Frontiers in Genetics angioimmunoblastic T-cell lymphoma hypereosinophilia RHOA A161E mutation variant allele frequency case report |
| 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 | angioimmunoblastic T-cell lymphoma hypereosinophilia RHOA A161E mutation variant allele frequency case report |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.948744/full |
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