摘要：

We report here that individuals with Noonan syndrome and juvenile myelomonocytic leukemia (JMML) have germline mutations inPTPN11 and that somatic mutations in PTPN11 account for 34% of non-syndromic JMML. Furthermore, we found mutations inPTPN11 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 inPTPN11 associated with JMML caused a gain of function.

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