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Updated: May 14, 2026

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling
Published on: October 14, 2021
Mycosis fungoides and Sézary syndrome
Blanca Espinet1, Rocío Salgado
1Molecular Cytogenetics Laboratory, Pathology Department, Hospital del Mar, Barcelona, Spain. bespinet@parcdesalutmar.cat
Abstract:
The development of array comparative genomic hybridization (aCGH) techniques has allowed to characterize more precisely several human neoplasms with the aim of providing prognostic markers and targets for directed therapeutic intervention. Recently, several studies applying aCGH technique have been reported in which an exhaustive genetic characterization of mycosis fungoides (MF) and Sézary syndrome (SS) has been performed. Regarding MF, a genomic profile characterized by the gains of 7q, 17q, and 8q and losses in 9p, 13q, 17p, and 10q has been described. In SS, the most common abnormalities are gains in 8q and 17q and losses at 17p and 10q. One of the main contributions of the aCGH studies in MF and SS has been the description of genetic markers associated with a poor prognosis. In MF, three specific chromosomal regions, 9p21.3 (CDKN2A, CDKN2B, and MTAP), 8q24.21 (MYC), and 10q26qter (MGMT and EBF3) have been defined as prognostic markers exhibiting a significant correlation with overall survival (P = 0.042, P = 0.017, and P = 0.022, respectively). Moreover, two MF genomic subgroups have been described, distinguishing a stable group (0-5 DNA aberrations) and an unstable group (>5 DNA aberrations), showing that the genomic unstable group had a shorter overall survival (P = 0.05).
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