Pathology International · 2020 · 24 citations · 19 references
MedicineHematologyOncologyHematopathologyImmunogeneticsMolecular PathologyCancer Molecular PathologyHematologic MalignanciesLymphoid Tissue PathologyLymphoid TumorsMutation AnalysisNext-generation Sequencing In OncologyAngioimmunoblastic T Cell LymphomaClinicopathological CorrelationDeep Sequencing AnalysisFollicular Helper T CellsLymphoma Genetic AbnormalitiesLymphoma PathogenesisNext-generation Sequencing AnalysisT Follicular Helper Cells
Follicular T-cell lymphoma (FTCL) is considered to originate from follicular helper T-cell (Tfh) cells. Angioimmunoblastic T-cell lymphoma (AITL) and peripheral T-cell lymphomas with the Tfh phenotype, derived from Tfh cells, often harbor RHOA G17V mutation. We investigated whether RHOA mutations affect the clinicopathological features of FTCL. We performed deep sequencing and Sanger sequencing for RHOA exon 2 in 16 cases of FTCL. Nine cases showed RHOA mutations, including eight with c.G50T, p.Gly17Val and one with c.G50A, p.Gly17Glu, c.A52G, p.Lys18Glu, c.T102C, p.Tyr34Tyr and c.G145T, p.Asp49Tyr. Compared to the RHOA mutation-negative group, the RHOA mutation-positive group had a higher tendency for B-immunoblasts (P = 0.06), the AITL component (P = 0.09), and higher positive rate for CD10 (P = 0.09) and BCL6 (P = 0.09), and a significantly higher positive rate for CXCL13 (P = 0.04). Although not statistically significant, the RHOA mutation-positive group showed higher values for almost all characteristic AITL features. There was no significant difference in overall survival between RHOA mutation-positive and -negative groups. The RHOA mutation may play an important role in clinicopathological characteristics and lymphomagenesis of FTCL. A more detailed investigation is needed to highlight the importance of RHOA mutations in FTCL.
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Somatic RHOA mutation in angioimmunoblastic T cell lymphoma
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Recurrent gain-of-function mutations of RHOA in diffuse-type gastric carcinoma
Miwako Kakiuchi, Takashi Nishizawa, Hiroki Ueda et al. · Nature Genetics · 2014 · 510 citations
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