Department of Surgery, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Kaohsiung J Med Sci. 2010 Aug;26(8):428-34. doi: 10.1016/S1607-551X(10)70069-3.
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.
本报告描述了一例胃肠道间质瘤(GIST)和上消化道出血作为卡尼三联征的首发表现,卡尼三联征是一种同时或异时性疾病,涉及胃平滑肌肉瘤、肾上腺外副神经节瘤和肺软骨瘤。一名 26 岁女性因头晕和 3 天内数次黑便就诊。体格检查发现结膜苍白,但血流动力学状态正常。胃肠镜检查显示一个胃窦黏膜下肿瘤,伴有明显出血(胃肿瘤黏膜表面的出血点)。腹部 CT 扫描显示胃窦黏膜下肿瘤、肝段 II/V 上的两个继发病变和腹膜后肿瘤。肿瘤切除和随后的恢复都很顺利。胃 GIST 伴肝转移和腹膜后副神经节瘤的病理研究得到了证实。该患者接受了伊马替尼治疗 GIST 伴肝转移,并在我院继续接受后续治疗。手术 32 个月后的腹部 CT 扫描显示肝转移灶无变化,无局部复发迹象。手术 33 个月后的另一次随访证实病情稳定。在文献报道的近 100 例病例中,本例是首例在台湾报道的病例。该病例提示,该罕见综合征可能发生在三联征的三个组成部分之一的年轻女性患者中,需要进一步进行诊断性研究,以便在仍可行根治性手术时尽早发现肿瘤。