Monomorphic epitheliotropic intestinal t-cell lymphoma in asia frequently shows setd2 alterations

Sakura Tomita, Yara Yukie Kikuti, Joaquim Carreras, Rika Sakai, Katsuyoshi Takata, Tadashi Yoshino, Silvia Bea, Elias Campo, Edoardo Missiaglia, Justine Bouilly, Audrey Letourneau, Laurence de Leval, Naoya Nakamura

Research output: Contribution to journalArticlepeer-review

Abstract

Monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL) is a rare primary T-cell lymphoma of the digestive tract derived from intraepithelial lymphocytes and characterized by an aggressive clinical course. In this study, nine cases of Japanese MEITL were analyzed by targeted Next Generation Sequencing (NGS) and immunohistochemistry and were integrated with previously reported whole-genome copy number microarray-based assay data. The highlight of our findings is that all cases showed alterations of the tumor suppressor gene SETD2 by mutations and/or loss of the corresponding 3p21 locus. We also demonstrated that all cases showed mutations in one or more genes of JAK/STAT pathway. Therefore, the combination of epigenetic deregulation and cell signaling activation represent major oncogenic events in the pathogenesis of MEITL in Asian MEITL, similar to Western MEITL.

Original languageEnglish
Article number3539
Pages (from-to)1-11
Number of pages11
JournalCancers
Volume12
Issue number12
DOIs
Publication statusPublished - Dec 2020

Keywords

  • Copy-number changes
  • Genome profile
  • JAK/STAT pathway
  • MEITL
  • Mutational landscape
  • NGS
  • SETD2

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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