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Title: Identification of gene mutations and fusion genes in patients with Sézary Syndrome
Author: Prasad, Aparna
Rabionet Janssen, Raquel
Espinet Solà, Blanca
Zapata, Luis
Puiggròs Metje, Anna Maria
Melero, Carme
Puig, Anna
Sarria Trujillo, Yaris
Ossowski, Stephan
Garcia-Muret, Maria P.
Estrach Panella, Ma. Teresa (María Teresa)
Servitje Bedate, Octavio
Lopez Lerma, Ingrid
Gallardo, Fernando
Pujol, Ramon M.
Estivill, Xavier, 1955-
Keywords: Mutació (Biologia)
Cèl·lules T
Malalties de la pell
Mutation (Biology)
T cells
Skin diseases
Issue Date: Jul-2016
Publisher: Society for Investigative Dermatology
Abstract: Sézary 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 Sézary cells, 14 of them fulfilling the diagnostic criteria of Sézary syndrome. We have discovered genes that could be involved in the pathogenesis of Sézary 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 Sézary 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.
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It is part of: Journal of Investigative Dermatology, 2016, vol. 136, num. 7, p. 1490-1499
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ISSN: 0022-202X
Appears in Collections:Articles publicats en revistes (Ciències Clíniques)

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