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. 2003 Jun;34(2):148-50.
doi: 10.1038/ng1156.

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

Marco Tartaglia  1 , Charlotte M Niemeyer, Alessandra Fragale, Xiaoling Song, Jochen Buechner, Andreas Jung, Karel Hählen, Henrik Hasle, Jonathan D Licht, Bruce D Gelb
Affiliations

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

Marco Tartaglia et al. Nat Genet. 2003 Jun.

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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