The T-cell leukemia-associated ribosomal RPL10 R98S mutation enhances JAK-STAT signaling

Leukemia. 2018 Mar;32(3):809-819. doi: 10.1038/leu.2017.225. Epub 2017 Jul 24.

Abstract

Several somatic ribosome defects have recently been discovered in cancer, yet their oncogenic mechanisms remain poorly understood. Here we investigated the pathogenic role of the recurrent R98S mutation in ribosomal protein L10 (RPL10 R98S) found in T-cell acute lymphoblastic leukemia (T-ALL). The JAK-STAT signaling pathway is a critical controller of cellular proliferation and survival. A proteome screen revealed overexpression of several Jak-Stat signaling proteins in engineered RPL10 R98S mouse lymphoid cells, which we confirmed in hematopoietic cells from transgenic Rpl10 R98S mice and T-ALL xenograft samples. RPL10 R98S expressing cells displayed JAK-STAT pathway hyper-activation upon cytokine stimulation, as well as increased sensitivity to clinically used JAK-STAT inhibitors like pimozide. A mutually exclusive mutation pattern between RPL10 R98S and JAK-STAT mutations in T-ALL patients further suggests that RPL10 R98S functionally mimics JAK-STAT activation. Mechanistically, besides transcriptional changes, RPL10 R98S caused reduction of apparent programmed ribosomal frameshifting at several ribosomal frameshift signals in mouse and human Jak-Stat genes, as well as decreased Jak1 degradation. Of further medical interest, RPL10 R98S cells showed reduced proteasome activity and enhanced sensitivity to clinical proteasome inhibitors. Collectively, we describe modulation of the JAK-STAT cascade as a novel cancer-promoting activity of a ribosomal mutation, and expand the relevance of this cascade in leukemia.

Publication types

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

MeSH terms

  • Alleles
  • Amino Acid Substitution*
  • Animals
  • Cell Line
  • Cytokines / metabolism
  • Gene Expression Regulation, Leukemic / drug effects
  • Humans
  • Janus Kinases / metabolism*
  • Leukemia, T-Cell / genetics
  • Leukemia, T-Cell / metabolism
  • Mice
  • Mutation*
  • Phosphorylation
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / metabolism*
  • Proteasome Endopeptidase Complex / metabolism
  • Protein Kinase Inhibitors / pharmacology
  • Ribosomal Protein L10
  • Ribosomal Proteins / genetics*
  • STAT Transcription Factors / metabolism*
  • Signal Transduction / drug effects

Substances

  • Cytokines
  • Protein Kinase Inhibitors
  • RPL10 protein, human
  • Ribosomal Proteins
  • Rpl10 protein, mouse
  • STAT Transcription Factors
  • Janus Kinases
  • Proteasome Endopeptidase Complex