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

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

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          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.

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