{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["Illumina HiSeq 2000;, Illumina HiSeq 2500;"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001001998"],"sample_count":["30"],"description":["EGA dataset EGAD00001001998"],"repository":["EGA"],"title":["Sequencing data on patients with Sezary Syndrome"],"pubmed_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."],"pubmed_title":["Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome."],"pubmed_authors":["Prasad Aparna A, Rabionet Raquel R, Espinet Blanca B, Zapata Luis L, Puiggros Anna A, Melero Carme C, Puig Anna A, Sarria-Trujillo Yaris Y, Ossowski Stephan S, Garcia-Muret Maria P MP, Estrach Teresa T, Servitje Octavio O, Lopez-Lerma Ingrid I, Gallardo Fernando F, Pujol Ramon M RM, Estivill Xavier X"],"additional_accession":[]},"is_claimable":false,"name":"ena-DATASET-CRG-06-04-2016-03:49:04:655-499 - samples","description":"This dataset consists of sequencing data on 15 patients with Sezary syndrome. On 12 of these patients, we have exome sequencing data while on 10 patients, we have RNA sequencing data. In total for seven patients, we have both exome as well as RNA sequencing data. We looked for gene mutations and fusion events in these patients to identify genes that could be involved in the pathogenesis of the disease.","dates":{"updated":"2021-03-11 16:30:59"},"accession":"EGAD00001001998","cross_references":{"TAXONOMY":["9606"],"pubmed":["27039262"],"EGA":["EGAC00001000438","EGAS00001001706"]}}