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Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma in Asia Frequently Shows SETD2 Alterations

SIMPLE SUMMARY: Monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL) is a rare primary T-cell lymphoma of the digestive tract that is characterized by an aggressive clinical course. The aim of this study was to analyze the clinicopathological characteristics and genomic profile of Asian ME...

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Autores principales: Tomita, Sakura, Kikuti, Yara Yukie, Carreras, Joaquim, Sakai, Rika, Takata, Katsuyoshi, Yoshino, Tadashi, Bea, Silvia, Campo, Elias, Missiaglia, Edoardo, Bouilly, Justine, Letourneau, Audrey, de Leval, Laurence, Nakamura, Naoya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7759862/
https://www.ncbi.nlm.nih.gov/pubmed/33260897
http://dx.doi.org/10.3390/cancers12123539
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author Tomita, Sakura
Kikuti, Yara Yukie
Carreras, Joaquim
Sakai, Rika
Takata, Katsuyoshi
Yoshino, Tadashi
Bea, Silvia
Campo, Elias
Missiaglia, Edoardo
Bouilly, Justine
Letourneau, Audrey
de Leval, Laurence
Nakamura, Naoya
author_facet Tomita, Sakura
Kikuti, Yara Yukie
Carreras, Joaquim
Sakai, Rika
Takata, Katsuyoshi
Yoshino, Tadashi
Bea, Silvia
Campo, Elias
Missiaglia, Edoardo
Bouilly, Justine
Letourneau, Audrey
de Leval, Laurence
Nakamura, Naoya
author_sort Tomita, Sakura
collection PubMed
description SIMPLE SUMMARY: Monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL) is a rare primary T-cell lymphoma of the digestive tract that is characterized by an aggressive clinical course. The aim of this study was to analyze the clinicopathological characteristics and genomic profile of Asian MEITL. In this study, nine cases of Japanese MEITL were analyzed by targeted Next Generation Sequencing and immunohistochemistry and were integrated with previously reported whole-genome copy number microarray-based assay data. All cases showed alterations of the tumor suppressor gene SETD2 and mutations in one or more genes of the JAK/STAT pathway. Therefore, we concluded that the combination of epigenetic deregulation and cell signaling activation may represent a major oncogenic event in the pathogenesis of Asian MEITL, similar to Western MEITL. 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.
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spelling pubmed-77598622020-12-26 Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma in Asia Frequently Shows SETD2 Alterations Tomita, Sakura Kikuti, Yara Yukie Carreras, Joaquim Sakai, Rika Takata, Katsuyoshi Yoshino, Tadashi Bea, Silvia Campo, Elias Missiaglia, Edoardo Bouilly, Justine Letourneau, Audrey de Leval, Laurence Nakamura, Naoya Cancers (Basel) Article SIMPLE SUMMARY: Monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL) is a rare primary T-cell lymphoma of the digestive tract that is characterized by an aggressive clinical course. The aim of this study was to analyze the clinicopathological characteristics and genomic profile of Asian MEITL. In this study, nine cases of Japanese MEITL were analyzed by targeted Next Generation Sequencing and immunohistochemistry and were integrated with previously reported whole-genome copy number microarray-based assay data. All cases showed alterations of the tumor suppressor gene SETD2 and mutations in one or more genes of the JAK/STAT pathway. Therefore, we concluded that the combination of epigenetic deregulation and cell signaling activation may represent a major oncogenic event in the pathogenesis of Asian MEITL, similar to Western MEITL. 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. MDPI 2020-11-27 /pmc/articles/PMC7759862/ /pubmed/33260897 http://dx.doi.org/10.3390/cancers12123539 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Tomita, Sakura
Kikuti, Yara Yukie
Carreras, Joaquim
Sakai, Rika
Takata, Katsuyoshi
Yoshino, Tadashi
Bea, Silvia
Campo, Elias
Missiaglia, Edoardo
Bouilly, Justine
Letourneau, Audrey
de Leval, Laurence
Nakamura, Naoya
Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma in Asia Frequently Shows SETD2 Alterations
title Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma in Asia Frequently Shows SETD2 Alterations
title_full Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma in Asia Frequently Shows SETD2 Alterations
title_fullStr Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma in Asia Frequently Shows SETD2 Alterations
title_full_unstemmed Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma in Asia Frequently Shows SETD2 Alterations
title_short Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma in Asia Frequently Shows SETD2 Alterations
title_sort monomorphic epitheliotropic intestinal t-cell lymphoma in asia frequently shows setd2 alterations
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7759862/
https://www.ncbi.nlm.nih.gov/pubmed/33260897
http://dx.doi.org/10.3390/cancers12123539
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