Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors

Simone Martinelli, Claudio Carta, Elisabetta Flex, Francesco Binni, Sonia Moretti, Efisio Puxeddu, Massimo Tonacchera, Aldo Pinchera, Heather P. Mcdowell, Carlo Dominici, Angelo Rosolen, Concezio Di Rocco, Riccardo Riccardi, Paolo Celli, Mauro Picardo, Maurizio Genuardi, Paola Grammatico, Mariella Sorcini, Marco Tartaglia

Risultato della ricerca: Contributo in rivistaArticolo in rivista

37 Citazioni (Scopus)


The PTPN11 gene encodes SHP-2, a widely expressed cytoplasmic protein tyrosine phosphatase functioning as a signaling transducer. Germ-line PTPN11 mutations cause Noonan syndrome (NS), a developmental disorder characterized by an increased risk of malignancies. Recently, a novel class of activating mutations in PTPN11 has been documented as a somatic event in a heterogeneous group of leukemias. Because of the relatively higher prevalence of certain solid tumors in children with NS and the positive modulatory function of SHP-2 in RAS signaling, a wider role for activating PTPN11 mutations in cancer has been hypothesized. Here, we screened a number of solid tumors, including those documented in NS or in which deregulated RAS signaling occurs at significant frequency, for PTPN11 mutations. No disease-associated mutation was identified in rhabdomyosarcoma (n = 13), neuroblastoma (n = 32), melanoma (n = 50), thyroid (n = 85), and colon (n = 48) tumors; a novel missense change, promoting an increased basal phosphatase activity of SHP-2, was observed in one glioma specimen. Our data document that deregulated SHP-2 function does not represent a major molecular event in pediatric and adult tumors, further supporting our previous evidence indicating that the oncogenic role of PTPN11 mutations is cell-context specific.
Lingua originaleEnglish
pagine (da-a)124-129
Numero di pagine6
RivistaCancer Genetics and Cytogenetics
Stato di pubblicazionePubblicato - 2006


  • PTPN11 mutations
  • solid tumors


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