title: Mutations of PTPN11 are rare in adult myeloid malignancies.
abstract: The PTPN11 gene encodes the phospho-tyrosyine phosphatase protein SHP-2. Constitutional mutations of this gene are involved in Noonan's syndrome, a developmental disorder in which children have a predisposition to develop a myeloid disorder called juvenile myelomonocytic leukemia. Recently, studies have shown that somatic mutations of PTPN11 can be found in children with myeloid malignancies. We evaluated the incidence of acquired mutation of PTPN11 in 76 adults with acute or chronic myeloid malignancies and summarized our results together with others published recently.
authors.forename: Leroy
authors.initials: L
authors.lastname: Hugues
authors.forename: Hélène
authors.initials: H
authors.lastname: Cavé
authors.forename: Nathalie
authors.initials: N
authors.lastname: Philippe
authors.forename: Sabrina
authors.initials: S
authors.lastname: Pereira
authors.forename: Pierre
authors.initials: P
authors.lastname: Fenaux
authors.forename: Claude
authors.initials: C
authors.lastname: Preudhomme
mesh_terms: D000328:Adult; D002648:Child; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007951:Leukemia, Myeloid / Q000235:genetics*; D009154:Mutation; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases