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2016-07

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CC BY-NC-ND (c) Prasad, Aparna et al., 2016
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/103524

Identification of gene mutations and fusion genes in patients with Sézary Syndrome

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Recurs relacionat

https://doi.org/10.1016/j.jid.2016.03.024

Resum

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.

Matèries

Mutació (Biologia), Gens, Cèl·lules T, Limfomes, Malalties de la pell

Matèries (anglès)

Mutation (Biology), Genes, T cells, Lymphomas, Skin diseases

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Col·leccions

Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Publicacions de projectes de recerca finançats per la UE

Citació

PRASAD, Aparna, et al. Identification of gene mutations and fusion genes in patients with Sézary Syndrome. Journal of Investigative Dermatology. 2016. Vol. 136, num. 7, pags. 1490-1499. ISSN 0022-202X. [consulted: 4 of August of 2026]. Available at: https://hdl.handle.net/2445/103524

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