Mutation of the receptor tyrosine phosphatase PTPRC (CD45) in T-cell acute lymphoblastic leukemia

Blood. 2012 May 10;119(19):4476-9. doi: 10.1182/blood-2011-09-379958. Epub 2012 Mar 21.

Abstract

The protein tyrosine phosphatase CD45, encoded by the PTPRC gene, is well known as a regulator of B- and T-cell receptor signaling. In addition, CD45 negatively regulates JAK family kinases downstream of cytokine receptors. Here, we report the presence of CD45 inactivating mutations in T-cell acute lymphoblastic leukemia. Loss-of-function mutations of CD45 were detected in combination with activating mutations in IL-7R, JAK1, or LCK, and down-regulation of CD45 expression caused increased signaling downstream of these oncoproteins. Furthermore, we demonstrate that down-regulation of CD45 expression sensitizes T cells to cytokine stimulation, as observed by increased JAK/STAT signaling, whereas overexpression of CD45 decreases cytokine-induced signaling. Taken together, our data identify a tumor suppressor role for CD45 in T-cell acute lymphoblastic leukemia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Cell Line, Tumor
  • Cell Proliferation / drug effects
  • Gene Expression Regulation, Leukemic / drug effects
  • Genes, Tumor Suppressor / drug effects
  • Genes, Tumor Suppressor / physiology
  • HEK293 Cells
  • Humans
  • Janus Kinases / metabolism
  • Leukocyte Common Antigens / antagonists & inhibitors
  • Leukocyte Common Antigens / genetics*
  • Leukocyte Common Antigens / metabolism
  • Mutation* / physiology
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / metabolism
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / pathology
  • RNA, Small Interfering / pharmacology
  • STAT Transcription Factors / metabolism
  • Signal Transduction / drug effects
  • Signal Transduction / genetics

Substances

  • RNA, Small Interfering
  • STAT Transcription Factors
  • Janus Kinases
  • Leukocyte Common Antigens