Identification of Gene Mutations and Fusion Genes in Patients with Sezary Syndrome

Sezary syndrome is a leukemic form of cutaneous T-cell lymphoma with an aggressive clinical course. The genetic etiology of the disease is poorly understood, with chromosomal abnormalities and mutations in some genes being involved in the disease. The goal of our study was to understand the genetic...

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Autores: Prasad, A, Rabionet, R, Espinet, B, Zapata, L, Puiggros, A, Melero, C, Puig, A, Sarria-Trujillo, Y, Ossowski, S, Garcia-Muret, MP, Estrach, T, Servitje, O, Lopez-Lerma, I, Gallardo, F, Pujol, RM, Estivill, X
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2016
País:España
Institución:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Repositorio:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
OAI Identifier:oai:iibsantpau.fundanetsuite.com:p7224
Acceso en línea:https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7224
Access Level:acceso abierto
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spelling Identification of Gene Mutations and Fusion Genes in Patients with Sezary SyndromePrasad, ARabionet, REspinet, BZapata, LPuiggros, AMelero, CPuig, ASarria-Trujillo, YOssowski, SGarcia-Muret, MPEstrach, TServitje, OLopez-Lerma, IGallardo, FPujol, RMEstivill, XSezary syndrome is a leukemic form of cutaneous T-cell lymphoma with an aggressive clinical course. The genetic etiology of the disease is poorly understood, with chromosomal abnormalities and mutations in some genes being involved in the disease. The goal of our study was to understand the genetic basis of the disease by looking for driver gene mutations and fusion genes in 15 erythrodermic patients with circulating Sezary cells, 14 of them fulfilling the diagnostic criteria of Sezary syndrome. We have discovered genes that could be involved in the pathogenesis of Sezary syndrome. Some of the genes that are affected by somatic point mutations include ITPR1, ITPR2, DSC1, RIPK2, IL6, and RAG2, with some of them mutated in more than one patient. We observed several somatic copy number variations shared between patients, including deletions and duplications of large segments of chromosome 17. Genes with potential function in the T-cell receptor signaling pathway and tumorigenesis were disrupted in Sezary syndrome patients, for example, CBLB, RASA2, BCL7C, RAMP3, TBRG4, and DAD1. Furthermore, we discovered several fusion events of interest involving RASA2, NFKB2, BCR, FASN, ZEB1, TYK2, and SGMS1. Our work has implications for the development of potential therapeutic approaches for this aggressive disease.ELSEVIER SCIENCE INC2016info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7224JOURNAL OF INVESTIGATIVE DERMATOLOGYISSN: 0022202XISSNe: 15231747reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pauinstname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)Inglésinfo:eu-repo/semantics/openAccessoai:iibsantpau.fundanetsuite.com:p72242026-06-14T12:41:47Z
dc.title.none.fl_str_mv Identification of Gene Mutations and Fusion Genes in Patients with Sezary Syndrome
title Identification of Gene Mutations and Fusion Genes in Patients with Sezary Syndrome
spellingShingle Identification of Gene Mutations and Fusion Genes in Patients with Sezary Syndrome
Prasad, A
title_short Identification of Gene Mutations and Fusion Genes in Patients with Sezary Syndrome
title_full Identification of Gene Mutations and Fusion Genes in Patients with Sezary Syndrome
title_fullStr Identification of Gene Mutations and Fusion Genes in Patients with Sezary Syndrome
title_full_unstemmed Identification of Gene Mutations and Fusion Genes in Patients with Sezary Syndrome
title_sort Identification of Gene Mutations and Fusion Genes in Patients with Sezary Syndrome
dc.creator.none.fl_str_mv Prasad, A
Rabionet, R
Espinet, B
Zapata, L
Puiggros, A
Melero, C
Puig, A
Sarria-Trujillo, Y
Ossowski, S
Garcia-Muret, MP
Estrach, T
Servitje, O
Lopez-Lerma, I
Gallardo, F
Pujol, RM
Estivill, X
author Prasad, A
author_facet Prasad, A
Rabionet, R
Espinet, B
Zapata, L
Puiggros, A
Melero, C
Puig, A
Sarria-Trujillo, Y
Ossowski, S
Garcia-Muret, MP
Estrach, T
Servitje, O
Lopez-Lerma, I
Gallardo, F
Pujol, RM
Estivill, X
author_role author
author2 Rabionet, R
Espinet, B
Zapata, L
Puiggros, A
Melero, C
Puig, A
Sarria-Trujillo, Y
Ossowski, S
Garcia-Muret, MP
Estrach, T
Servitje, O
Lopez-Lerma, I
Gallardo, F
Pujol, RM
Estivill, X
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
description Sezary syndrome is a leukemic form of cutaneous T-cell lymphoma with an aggressive clinical course. The genetic etiology of the disease is poorly understood, with chromosomal abnormalities and mutations in some genes being involved in the disease. The goal of our study was to understand the genetic basis of the disease by looking for driver gene mutations and fusion genes in 15 erythrodermic patients with circulating Sezary cells, 14 of them fulfilling the diagnostic criteria of Sezary syndrome. We have discovered genes that could be involved in the pathogenesis of Sezary syndrome. Some of the genes that are affected by somatic point mutations include ITPR1, ITPR2, DSC1, RIPK2, IL6, and RAG2, with some of them mutated in more than one patient. We observed several somatic copy number variations shared between patients, including deletions and duplications of large segments of chromosome 17. Genes with potential function in the T-cell receptor signaling pathway and tumorigenesis were disrupted in Sezary syndrome patients, for example, CBLB, RASA2, BCL7C, RAMP3, TBRG4, and DAD1. Furthermore, we discovered several fusion events of interest involving RASA2, NFKB2, BCR, FASN, ZEB1, TYK2, and SGMS1. Our work has implications for the development of potential therapeutic approaches for this aggressive disease.
publishDate 2016
dc.date.none.fl_str_mv 2016
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7224
url https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7224
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv ELSEVIER SCIENCE INC
publisher.none.fl_str_mv ELSEVIER SCIENCE INC
dc.source.none.fl_str_mv JOURNAL OF INVESTIGATIVE DERMATOLOGY
ISSN: 0022202X
ISSNe: 15231747
reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
instname_str Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
reponame_str r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
collection r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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