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

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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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          Author and article information

          Journal
          Nat Genet
          Nature genetics
          Springer Science and Business Media LLC
          1061-4036
          1061-4036
          Jun 2003
          : 34
          : 2
          Affiliations
          [1 ] Department of Pediatrics, Mount Sinai School of Medicine, New York, New York, USA.
          Article
          ng1156
          10.1038/ng1156
          12717436
          71b50171-0c98-4d4b-894c-1e00f8c296ec

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