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

doi:10.3390/cancers12123539

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 journal › Article › peer-review

19 Citations (Scopus)

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 language	English
Article number	3539
Pages (from-to)	1-11
Number of pages	11
Journal	Cancers
Volume	12
Issue number	12
DOIs	https://doi.org/10.3390/cancers12123539
Publication status	Published - Dec 2020

Keywords

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

ASJC Scopus subject areas

Oncology
Cancer Research

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.3390/cancers12123539

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title = "Monomorphic epitheliotropic intestinal t-cell lymphoma in asia frequently shows setd2 alterations",

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.",

keywords = "Copy-number changes, Genome profile, JAK/STAT pathway, MEITL, Mutational landscape, NGS, SETD2",

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

note = "Funding Information: Funding: This research was funded by MINISTRY OF EDUCATION, CULTURE, SPORTS, SCIENCE AND TECHNOLOGY (MEXT) and THE JAPAN SOCIETY FOR THE PROMOTION OF SCIENCE (JSPS), grant number KAKENHI 18K15101 and 25860278, and the APC was funded by Tokai University, School of Medicine, research fund 2020. Publisher Copyright: {\textcopyright} 2020 by the authors. Licensee MDPI, Basel, Switzerland.",

year = "2020",

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doi = "10.3390/cancers12123539",

language = "English",

volume = "12",

pages = "1--11",

journal = "Cancers",

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T1 - Monomorphic epitheliotropic intestinal t-cell lymphoma in asia frequently shows setd2 alterations

AU - Tomita, Sakura

AU - Kikuti, Yara Yukie

AU - Carreras, Joaquim

AU - Sakai, Rika

AU - Takata, Katsuyoshi

AU - Yoshino, Tadashi

AU - Bea, Silvia

AU - Campo, Elias

AU - Missiaglia, Edoardo

AU - Bouilly, Justine

AU - Letourneau, Audrey

AU - de Leval, Laurence

AU - Nakamura, Naoya

N1 - Funding Information: Funding: This research was funded by MINISTRY OF EDUCATION, CULTURE, SPORTS, SCIENCE AND TECHNOLOGY (MEXT) and THE JAPAN SOCIETY FOR THE PROMOTION OF SCIENCE (JSPS), grant number KAKENHI 18K15101 and 25860278, and the APC was funded by Tokai University, School of Medicine, research fund 2020. Publisher Copyright: © 2020 by the authors. Licensee MDPI, Basel, Switzerland.

PY - 2020/12

Y1 - 2020/12

N2 - 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.

AB - 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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KW - JAK/STAT pathway

KW - MEITL

KW - Mutational landscape

KW - NGS

KW - SETD2

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

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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