Wichmann Charlotte Lilli Elena, Helmchen Birgit, Weber Achim, Wildi Stefan, Carboni Giovanni Luca
Division of Visceral, Thoracic and Vascular Surgery, Department of Surgery, Stadtspital, Triemli, Zurich, Switzerland.
Department of Pathology, Stadtspital Triemli, Zurich, Switzerland.
Asian Cardiovasc Thorac Ann. 2014 Jun;22(5):623-6. doi: 10.1177/0218492313483586. Epub 2013 Oct 8.
A 23-year-old woman presented with a mediastinal paraganglioma and multiple pulmonary chondromas following antral gastric resection for gastrointestinal stromal tumor. These tumors form the Carney triad, a rare disorder of unknown genetic background. First described in 1977, approximately 120 cases have been documented in the literature. The tumors do not harbor the specific c-kit or PDGFRA gene mutations often found in sporadic gastrointestinal stromal tumor. In most cases, gastric gastrointestinal stromal tumor is the first tumor to be detected, with secondary tumors appearing years later. Even if it is rare, Carney triad should be suspected in young patients with history of gastrointestinal stromal tumor.
一名23岁女性因胃肠道间质瘤接受胃窦切除术后，出现纵隔副神经节瘤和多发肺软骨瘤。这些肿瘤构成了卡尼三联征，这是一种遗传背景不明的罕见疾病。该疾病于1977年首次被描述，文献中已记录了约120例病例。这些肿瘤未携带散发性胃肠道间质瘤中常见的特定c-kit或PDGFRA基因突变。在大多数情况下，胃胃肠道间质瘤是首个被检测到的肿瘤，继发性肿瘤在数年之后出现。即使罕见，但对于有胃肠道间质瘤病史的年轻患者，仍应怀疑卡尼三联征。
