患者患有努南/莱波特综合征（努南综合征-多发性黑子病），存在广泛的腹部脂肪瘤病。
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).
机构信息
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.
出版信息
Am J Med Genet A. 2012 Jun;158A(6):1406-10. doi: 10.1002/ajmg.a.35329. Epub 2012 Apr 23.
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.
努南综合征（NS）是一种肿瘤易患疾病。1-3%的 NS 患者会出现白血病，罕见情况下也会出现实体肿瘤。NS 似乎还会导致非恶性肿瘤。我们报告了一例 26 岁女性，具有努南综合征-多发性痣和杂合突变的特征：c.1517A > C-p.Gln506Pro 位于 PTPN11 基因中。该患者发生了不常见的广泛脂肪瘤病，我们讨论了她的脂肪瘤病与 NS 之间可能存在的关系。
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