SET-NUP214 is a recurrent γδ lineage-specific fusion transcript associated with corticosteroid/chemotherapy resistance in adult T-ALL

Blood. 2014 Mar 20;123(12):1860-3. doi: 10.1182/blood-2013-08-521518. Epub 2014 Jan 21.

Abstract

The SET-NUP214 (TAF1/CAN) fusion gene is a rare genetic event in T-cell acute lymphoblastic leukemia (T-ALL). Eleven (6%) of 196 T-ALL patients enrolled in the French Group for Research on Adult Acute Lymphoblastic Leukemia (GRAALL) 2003 and 2005 trials harbored a SET-NUP214 transcript. SET-NUP214-positive patients were predominantly (10 [91%] of 11) T-cell receptor (TCR)-negative and strikingly associated with TCRγδ lineage T-ALLs, as defined by expression of TCRγδ, TCRδ and/or TCRγ rearrangements but no complete TCRβ variable diversity joining rearrangement in surface CD3/TCR-negative cases. When compared with SET-NUP214-negative patients, SET-NUP214-positive patients showed a significantly higher rate of corticosteroid resistance (91% vs 44%; P = .003) and chemotherapy resistance (100% vs 44%; P = .0001). All SET-NUP214-positive patients but one achieved complete remission, and 9 were allografted. Despite the poor early-treatment sensitivity, the outcome of SET-NUP214-positive patients was similar to that of SET-NUP214-negative patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Cortex Hormones / pharmacology
  • Adult
  • Antineoplastic Agents / pharmacology
  • DNA-Binding Proteins
  • Drug Resistance, Neoplasm / genetics*
  • Female
  • Gene Rearrangement, delta-Chain T-Cell Antigen Receptor
  • Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor
  • Histone Chaperones / genetics*
  • Humans
  • Male
  • Middle Aged
  • Nuclear Pore Complex Proteins / genetics*
  • Oncogene Fusion*
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / drug therapy*
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / immunology
  • Receptors, Antigen, T-Cell, gamma-delta / genetics
  • Transcription Factors / genetics*
  • Young Adult

Substances

  • Adrenal Cortex Hormones
  • Antineoplastic Agents
  • DNA-Binding Proteins
  • Histone Chaperones
  • NUP214 protein, human
  • Nuclear Pore Complex Proteins
  • Receptors, Antigen, T-Cell, gamma-delta
  • SET protein, human
  • Transcription Factors