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

Author:
Tartaglia, M  Niemeyer, CM  Fragale, A  Song, XL  Buechner, J  Jung, A  Hahlen, K  Hasle, H  Licht, JD  Gelb, BD  


Journal:
NATURE GENETICS


Issue Date:
2003


Abstract(summary):

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.


Page:
148---150


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