A Peculiar Mutation Spectrum Emerging from Young Peruvian Patients with Hepatocellular Carcinoma - Aix-Marseille Université Access content directly
Journal Articles PLoS ONE Year : 2014

A Peculiar Mutation Spectrum Emerging from Young Peruvian Patients with Hepatocellular Carcinoma

Abstract

Hepatocellular carcinoma usually afflicts individuals in their later years following longstanding liver disease. In Peru, hepatocellular carcinoma exists in a unique clinical presentation, which affects patients around age 25 with a normal, healthy liver. In order to deepen our understanding of the molecular processes ongoing in Peruvian liver tumors, mutation spectrum analysis was carried out on hepatocellular carcinomas from 80 Peruvian patients. Sequencing analysis focused on nine genes typically altered during liver carcinogenesis, i.e. ARID2, AXIN1, BRAF, CTNNB1, NFE2L2, H/K/N-RAS, and TP53. We also assessed the transcription level of factors involved in the control of the alpha-fetoprotein expression and the Hippo signaling pathway that controls contact inhibition in metazoans. The mutation spectrum of Peruvian patients was unique with a major class of alterations represented by Insertions/Deletions. There were no changes at hepatocellular carcinoma-associated mutation hotspots in more than half of the specimens analyzed. Furthermore, our findings support the theory of a consistent collapse in the Hippo axis, as well as an expression of the stemness factor NANOG in high alpha-fetoprotein-expressing hepatocellular carcinomas. These results confirm the specificity of Peruvian hepatocellular carcinoma at the molecular genetic level. The present study emphasizes the necessity to widen cancer research to include historically neglected patients from South America, and more
Fichier principal
Vignette du fichier
fetchObject.pdf (6.91 Mo) Télécharger le fichier
Origin : Publisher files allowed on an open archive
Loading...

Dates and versions

hal-01239684 , version 1 (08-12-2015)

Identifiers

Cite

Agnes Marchio, Stephane Bertani, Teresa Rojas Rojas, Franco Doimi, Benoît Terris, et al.. A Peculiar Mutation Spectrum Emerging from Young Peruvian Patients with Hepatocellular Carcinoma. PLoS ONE, 2014, 9 (e114912 ), ⟨10.1371/journal.pone.0114912⟩. ⟨hal-01239684⟩
178 View
202 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More