Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

Nat Genet. 2003 Jun;34(2):148-50. doi: 10.1038/ng1156.

Abstract

We report here that individuals with Noonan syndrome and juvenile myelomonocytic leukemia (JMML) have germline mutations in PTPN11 and that somatic mutations in PTPN11 account for 34% of non-syndromic JMML. Furthermore, we found mutations in PTPN11 in a small percentage of individuals with myelodysplastic syndrome (MDS) and de novo acute myeloid leukemia (AML). Functional analyses documented that the two most common mutations in PTPN11 associated with JMML caused a gain of function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • COS Cells
  • Child
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Leukemia, Myeloid, Acute / enzymology*
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myelomonocytic, Acute / complications
  • Leukemia, Myelomonocytic, Acute / enzymology*
  • Leukemia, Myelomonocytic, Acute / genetics*
  • Mutation*
  • Myelodysplastic Syndromes / enzymology*
  • Myelodysplastic Syndromes / genetics*
  • Noonan Syndrome / complications
  • Noonan Syndrome / enzymology
  • Noonan Syndrome / genetics
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases / genetics*
  • Protein Tyrosine Phosphatases / metabolism
  • Transfection

Substances

  • Intracellular Signaling Peptides and Proteins
  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases