Comprehensive Genomic Profiling of Angioimmunoblastic T-Cell Lymphoma (AITL) in Chinese Patients

Discussion:The aim of our study was to reveal the genomic landscape of Chinese AITL. The cohort collection was unbiased, the patients' features were in concordance with previous reports that the disease of AITL is mostly found in the elderly (>60) and shows male predominance. Most cases were EBV-positive. Similar to prior studies, somatic mutations in TET2, RHOA, IDH2, and DNMT3A were found at varying frequencies sequentially of 80%, 60%, 40% and 30% in AITL. Co-occurring mutations of TET2/RHOA were found in 50%. RHOA G17V mutations were predominant mutations while we detected three rare sites in AITL including RHOA C16F, G17E and S26R, in which C16F and G17E were previously reported in other cancers. NGS studies have identified epigenetic modifiers mutations as a hallmark of AITL, highlighting an attractive therapeutic target in this disease. Notably, we also detected substitution mutations of histone modification genes including TIPARP, the mouse ortholog of which catalyzes histone poly(ADP-ribosyl)ation in 2 pts with one mutation previously reported in ovarian cancer; KMT2C in 2 pts with the mutations reported in other cancers. This is the first report TIPARP mutation in AITL. Another novel mutation feature was CRLF2 gene amplification and intergenic PAX5 rearrangement. These two genes are more often involved in B-cell related lymphoma/ leukemia, but our study discovered the gene abnormalities in AITL. The general low TMB is also consistent with other reports. In summar...

Source: Blood - November 21, 2018 Category: Hematology Authors: Zhong, L., Wang, J., Chen, Y., Lin, W., Liu, X., Dou, Y., Sun, L., Zhao, S., Dong, X., Dave, U., Wang, K., Chen, G. Tags: 621. Lymphoma-Genetic/Epigenetic Biology Source Type: research