AUTHOR=Cao Lihong , Tong Hongyan , Liu Xing , Xu Yingqing , Yu Fang , Pan Qi , Lai Jin , Huang Jian , Qin Jiayue , Jin Jie 

TITLE=Case Report: Pathogenesis With a Rare RHOA A161E Mutation in a Patient With Angioimmunoblastic T-Cell Lymphoma

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.948744

DOI=10.3389/fgene.2022.948744

ISSN=1664-8021

ABSTRACT=<p>Angioimmunoblastic T-cell lymphoma (AITL) genomic abnormalities are highly disease-specific, and the ras homology family member A (<italic>RHOA</italic>) gene is one of the most recurrent mutated genes, especially for <italic>RHOA</italic> G17V mutation site. Here, we identified a rare <italic>RHOA</italic> 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 <italic>RHOA</italic> 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.</p>