Article
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
Nature genetics - 1 Jun 2003
Tartaglia Marco, Niemeyer Charlotte M, Fragale Alessandra, Song Xiaoling, Buechner Jochen, Jung Andreas, Hählen Karel, Hasle Henrik, Licht Jonathan D, Gelb Bruce D
Abstract excerpt
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...
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