Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma in Asia Frequently Shows <i>SETD2</i> 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

Cancers (Nov 2020)

Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma in Asia Frequently Shows <i>SETD2</i> 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

Affiliations

Sakura Tomita: Department of Pathology, School of Medicine, Tokai University, 143 Shimokasuya, Kanagawa, Isehara 259-1193, Japan
Yara Yukie Kikuti: Department of Pathology, School of Medicine, Tokai University, 143 Shimokasuya, Kanagawa, Isehara 259-1193, Japan
Joaquim Carreras: Department of Pathology, School of Medicine, Tokai University, 143 Shimokasuya, Kanagawa, Isehara 259-1193, Japan
Rika Sakai: Department of Oncology, Kanagawa Cancer Center, Kanagawa, Yokohama 241-8515, Japan
Katsuyoshi Takata: Department of Pathology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama 700-8558, Japan
Tadashi Yoshino: Department of Pathology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama 700-8558, Japan
Silvia Bea: Department of Pathology, Hospital Clinic Barcelona, Institut d’Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Centro de Investigacion Biomedica en Red de Cancer (CIBERONC), University of Barcelona, Rossello 149-153, 08036 Barcelona, Spain
Elias Campo: Department of Pathology, Hospital Clinic Barcelona, Institut d’Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Centro de Investigacion Biomedica en Red de Cancer (CIBERONC), University of Barcelona, Rossello 149-153, 08036 Barcelona, Spain
Edoardo Missiaglia: Institute of Pathology, Lausanne University Hospital, Lausanne University, Vaud, 1015 Lausanne, Switzerland
Justine Bouilly: Institute of Pathology, Lausanne University Hospital, Lausanne University, Vaud, 1015 Lausanne, Switzerland
Audrey Letourneau: Institute of Pathology, Lausanne University Hospital, Lausanne University, Vaud, 1015 Lausanne, Switzerland
Laurence de Leval: Institute of Pathology, Lausanne University Hospital, Lausanne University, Vaud, 1015 Lausanne, Switzerland
Naoya Nakamura: Department of Pathology, School of Medicine, Tokai University, 143 Shimokasuya, Kanagawa, Isehara 259-1193, Japan

DOI: https://doi.org/10.3390/cancers12123539
Journal volume & issue: Vol. 12, no. 12
p. 3539

Abstract

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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.

Published in Cancers

ISSN: 2072-6694 (Online)
Publisher: MDPI AG
Country of publisher: Switzerland
LCC subjects: Medicine: Internal medicine: Neoplasms. Tumors. Oncology. Including cancer and carcinogens
Website: https://www.mdpi.com/journal/cancers/

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