Loss of the candidate tumor suppressor ZEB1 (TCF8, ZFHX1A) in Sézary syndrome

Cell Death Dis. 2018 Dec 5;9(12):1178. doi: 10.1038/s41419-018-1212-7.

Abstract

Cutaneous T-cell lymphoma is a group of incurable extranodal non-Hodgkin lymphomas that develop from the skin-homing CD4+ T cell. Mycosis fungoides and Sézary syndrome are the most common histological subtypes. Although next-generation sequencing data provided significant advances in the comprehension of the genetic basis of this lymphoma, there is not uniform consensus on the identity and prevalence of putative driver genes for this heterogeneous group of tumors. Additional studies may increase the knowledge about the complex genetic etiology characterizing this lymphoma. We used SNP6 arrays and GISTIC algorithm to prioritize a list of focal somatic copy-number alterations in a dataset of multiple sequential samples from 21 Sézary syndrome patients. Our results confirmed a prevalence of significant focal deletions over amplifications: single well-known tumor suppressors, such as TP53, PTEN, and RB1, are targeted by these aberrations. In our cohort, ZEB1 (TCF8, ZFHX1A) spans a deletion having the highest level of significance. In a larger group of 43 patients, we found that ZEB1 is affected by deletions and somatic inactivating mutations in 46.5% of cases; also, we found potentially relevant ZEB1 germline variants. The survival analysis shows a worse clinical course for patients with ZEB1 biallelic inactivation. Multiple abnormal expression signatures were found associated with ZEB1 depletion in Sézary patients we verified that ZEB1 exerts a role in oxidative response of Sézary cells. Our data confirm the importance of deletions in the pathogenesis of cutaneous T-cell lymphoma. The characterization of ZEB1 abnormalities in Sézary syndrome fulfils the criteria of a canonical tumor suppressor gene. Although additional confirmations are needed, our findings suggest, for the first time, that ZEB1 germline variants might contribute to the risk of developing this disease. Also, we provide evidence that ZEB1 activity in Sézary cells, influencing the reactive oxygen species production, affects cell viability and apoptosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apoptosis
  • Cell Line, Tumor
  • Cell Survival
  • DNA Copy Number Variations
  • Gene Expression Regulation, Neoplastic*
  • Genetic Predisposition to Disease*
  • Germ-Line Mutation*
  • Humans
  • Oligonucleotide Array Sequence Analysis
  • PTEN Phosphohydrolase / genetics
  • PTEN Phosphohydrolase / immunology
  • Polymorphism, Single Nucleotide
  • Reactive Oxygen Species / immunology
  • Reactive Oxygen Species / metabolism
  • Retinoblastoma Binding Proteins / genetics
  • Retinoblastoma Binding Proteins / immunology
  • Sezary Syndrome / genetics*
  • Sezary Syndrome / immunology
  • Sezary Syndrome / mortality
  • Sezary Syndrome / pathology
  • Skin / immunology
  • Skin / pathology
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / immunology
  • Skin Neoplasms / mortality
  • Skin Neoplasms / pathology
  • Survival Analysis
  • T-Lymphocytes / immunology
  • T-Lymphocytes / pathology
  • Tumor Suppressor Protein p53 / genetics
  • Tumor Suppressor Protein p53 / immunology
  • Ubiquitin-Protein Ligases / genetics
  • Ubiquitin-Protein Ligases / immunology
  • Zinc Finger E-box-Binding Homeobox 1 / deficiency
  • Zinc Finger E-box-Binding Homeobox 1 / genetics*
  • Zinc Finger E-box-Binding Homeobox 1 / immunology

Substances

  • RB1 protein, human
  • Reactive Oxygen Species
  • Retinoblastoma Binding Proteins
  • TP53 protein, human
  • Tumor Suppressor Protein p53
  • ZEB1 protein, human
  • Zinc Finger E-box-Binding Homeobox 1
  • Ubiquitin-Protein Ligases
  • PTEN Phosphohydrolase
  • PTEN protein, human