胃肠道间质瘤骨转移临床病理特征及文献分析

Clinicopathologic feature of gastrointestinal stromal tumor with bone metastasis and literature review

目的胃肠道间质瘤(gastrointestinal stromal tumor,GIST)术后常出现肝脏和腹膜转移,骨转移却极其罕见。本研究通过探讨GIST骨转移的临床病理特点,以提高对其认识。方法总结3例罕见GIST骨转移病例的临床、病理形态及免疫表型特点,并复习相关文献。结果 3例均为中老年患者,男2例,女1例。3例原发病灶分别为小肠、食管、胃,且原发灶2例呈高危险度;3例相应骨转移灶分别为胸椎和肋骨、肱骨和胸椎、肋骨,其中2例同时合并肝转移。骨转移灶镜下形态为梭形细胞,可见核端空泡,核分裂象易见,靶向治疗后出现横纹肌样分化及多灶性坏死;免疫组化显示弥漫表达CD117和DOG1;基因检测均出现c-kit基因11号外显子突变。结论 GIST骨转移部位多见于椎体,病理诊断通常需结合相应临床病史和免疫表型,对于出现肝转移或高危险度的GIST应高度警惕骨转移可能。

OBJECTIVE The most metastatic locations of postoperative gastrointestinal stromal tumor(GIST)are liver and peritoneum,but bone metastasis is very rare.We will investigate clinicopathologic features of GIST with rare bone metastasis in this article,and improve the knowledge.METHODS The clinical and pathological data of 3 cases were collected,and pathologic diagnosis and immunostains were performed along with a review of the literatures. RESULTS There were 1 female and 2 males of the middle-aged and eldly patients.The primary lesions were small intestine,esophagus and stomach respectively,with high risk degree in 2 eases.There corresponding lesions of bone metastasis were thoracic vertebrae and rib,humerus and thoracic vertebrae,rib respectively,with live metastasis of 2 cases at the same time.Histologically,bone lesions presented the spindle neoplastic cells with cacuolation in cytoplasmic and more karyokinesis.After the target therapy,part of the tumor cells transformed to morphology of striated muscle shape with multiple necrosis.Immunohistochemically,tumor cells of bone metastasis showed diffuse staining of CDl17 and DOG1,and gene sequencing analysis showed the mutation of exon 11 in c-kit gene.CONCLUSIONS The bone metastasis of GIST is common in centrum,and the diagnosis is often based upon clinical findings and immunostain.The risk of bone metastasis from high risk GIST should be considered during long-term followup,particularly in the presence of liver metastasis.