Expressed mutated genes in Sezary syndrome and their potential prognostic value in patients treated with extracorporeal photopheresis.

ABSTRACT:

Background

Sézary syndrome (SS) is an aggressive and leukemic variant of Cutaneous T-cell Lymphoma (CTCL) with an incidence of 1 case per million people per year. It is characterized by a complex and heterogeneous profile of genetic alteration ns that has so far precluded the development of a specific and definitive therapeutic intervention.

Methods

Deep-RNA-sequencing (RNA-seq) data were used to analyze the single nucleotide variants (SNVs) carried by 128 putative CTCL-driver genes, previously identified as mutated in genomic studies, in longitudinal SS samples collected from 17 patients subjected to extracorporeal photopheresis (ECP) with Interferon-α. Results obtained were integrated with Whole Exome Sequencing (WES) data. SNVs were validated using the Sanger method. Path

SUBMITTER: Cristofoletti C 

PROVIDER: S-EPMC12411188 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature