title: Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).
abstract: Noonan syndrome (NS) is a tumor predisposing disorder. Leukemia is observed in 1-3% of patients with NS, with rare occurrences of solid tumors. It also appears to predispose to non-malignant tumors. We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A > C-p.Gln506Pro in the PTPN11 gene. The patient developed an unusual extensive lipomatosis and we discuss possible relationship between her lipomatosis and NS.
authors.affiliation: Centre de Référence Syndromes Malformatifs et Anomalies du Développement, Service de Médecine Infantile III et Génétique Clinique, CHU de Nancy et PRES de l'Université de Lorraine, UHP, Nancy, France. jpiard@chu-besancon.fr
authors.forename: Juliette
authors.initials: J
authors.lastname: Piard
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
authors.forename: Hélène
authors.initials: H
authors.lastname: Cavé
authors.forename: Michel
authors.initials: M
authors.lastname: Peuchmaur
authors.forename: Selim
authors.initials: S
authors.lastname: Bennaceur
authors.forename: Bruno
authors.initials: B
authors.lastname: Leheup
mesh_terms: D000328:Adult; D005260:Female; D006579:Heterozygote; D006801:Humans; D044542:LEOPARD Syndrome / Q000150:complications* / Q000235:genetics; D008068:Lipomatosis / Q000150:complications* / Q000235:genetics / Q000473:pathology; D009154:Mutation; D009634:Noonan Syndrome / Q000150:complications* / Q000235:genetics; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics
chemical_list: D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11