Genomic profiling of Sézary syndrome identifies alterations of key T cell signaling and differentiation genes

Nat Genet. 2015 Dec;47(12):1426-34. doi: 10.1038/ng.3444. Epub 2015 Nov 9.

Abstract

Sézary syndrome is a rare leukemic form of cutaneous T cell lymphoma characterized by generalized redness, scaling, itching and increased numbers of circulating atypical T lymphocytes. It is rarely curable, with poor prognosis. Here we present a multiplatform genomic analysis of 37 patients with Sézary syndrome that implicates dysregulation of cell cycle checkpoint and T cell signaling. Frequent somatic alterations were identified in TP53, CARD11, CCR4, PLCG1, CDKN2A, ARID1A, RPS6KA1 and ZEB1. Activating CCR4 and CARD11 mutations were detected in nearly one-third of patients. ZEB1, encoding a transcription repressor essential for T cell differentiation, was deleted in over one-half of patients. IL32 and IL2RG were overexpressed in nearly all cases. Our results demonstrate profound disruption of key signaling pathways in Sézary syndrome and suggest potential targets for new therapies.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Cell Differentiation / genetics*
  • Exome / genetics
  • Gene Expression Regulation, Neoplastic
  • Gene Regulatory Networks*
  • Genetic Drift
  • Genomics / methods
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Lymphocyte Activation
  • Mutation / genetics*
  • Prognosis
  • Sezary Syndrome / genetics*
  • Sezary Syndrome / mortality
  • Sezary Syndrome / pathology
  • Signal Transduction
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / mortality
  • Skin Neoplasms / pathology
  • Survival Rate
  • T-Lymphocytes / cytology
  • T-Lymphocytes / metabolism*

Associated data

  • dbGaP/P1PHS000859