Clinical, Radiologic and Pathologic Characteristics of the Carney Triad: A Case Report and Literature Review

Abstract

This report describes a patient with a gastrointestinal stromal tumor (GIST) and upper gastrointestinal hemorrhage as initial presentations of the Carney triad, a synchronous or metachronous condition involving gastric leiomyosarcoma, extra-adrenal paraganglioma and pulmonary chondroma. A 26-year-old woman presented with dizziness and several episodes of melena over 3 days. Physical examination revealed pale conjunctiva but normal hemodynamic status. Gastroendoscopy showed one antral submucosal tumor with evidence of an associated bleeder (the bleeder over the mucosal surface of the gastric tumor). An abdominal computed tomography scan showed an antral submucosal tumor, two secondary lesions over segment II/V of the liver and a retroperitoneal tumor. Surgical removal of the tumor and subsequent recovery were uneventful. The gastric GIST with liver metastasis and retroperitoneal paraganglioma were confirmed by pathologic study. The patient was treated with imatinib mesylate for the GIST with liver metastasis, and continued follow-up treatment at our hospital. An abdominal computed tomography scan at 32 months after surgery showed no change in the liver metastatic lesions and no evidence of local recurrence. Another follow-up visit at 33 months after surgery confirmed the stable condition. Of nearly 100 cases reported in the literature, this case is the first to be reported in Taiwan. This case highlights the possibility of this rare syndrome occurring in young female patients with one of the three components of the triad and the need for further diagnostic studies for early identification of tumors when curative surgery is still possible.

Computed Tomography Imaging Findings of Pulmonary Chondroma

“…By contrast, we found an even distribution of chondroma in the left (four cases) and right (four cases) lobes. In general, in absence of symptoms in most patients [14], the symptoms of pulmonary chondroma depend on the size and location of the tumour. Respiratory symptoms, including cough with haemoptysis or sputum and shortness of breath, are often observed [7]; this occurred in four cases (50%) in the present study.…”

Giant Pulmonary Chondromas as a Component of Carney’s Triad

“…Однако есть 5% риск рецидива опухоли в области резекции [2]. Возможен также вариант наблюдения бессимптомных образований [25], так как в 56% случаев через несколько лет после установки диагноза появляются новые хондромы [4,21].…”

“…При выявлении хотя бы одного новообразования, характерного для триады, в молодом возрасте, и особенно при наличии мультицентричного роста, необходимо проводить ежегодный скрининг для своевременной верификации иных образований. Наиболее информативным методом диагностики для составляющих данного синдрома является ПЭТ-КТ [25]. Эффективным методом скрининга катехоламин-секретирующих параганглиом является определение ванилилминдальной кислоты и фракционированных катехоламинов в моче, собранной за 24 часа [28].…”

Tríada de Carney. Una rara asociación de tumores infrecuentes: Caso clínico

“…Se ha recomendado que, como existe un largo intervalo entre la aparición del primer tumor y el 2°, todos los casos pediátricos deben considerarse como potenciales TDC, particularmente si la paciente es mujer y tiene tumores gástricos múltiples 10,11 .…”

“…Recientemente se comunicó un estudio genético efectuado en una cohorte de 63 pacientes con TDC no relacionados familiarmente, encontrándose mutaciones en las subunidades de la succinato-deshidrogenasa en sólo 6 de ellos 8 . Existen otros artículos y líneas de investigación que están permitiendo entender mejor esta rara entidad, con una progresiva disección de los elementos moleculares que nos permitan clasificar esta asociación clínica, próximos ya determinar el o los genes y las alteraciones que condicionan [8][9][10][11] . Comunicamos el caso de una mujer que inició este raro trastorno a los 14 años de edad y que tuvo una larga y complicada evolución.…”