神经纤维瘤病1型相关的胃肠道间质瘤

Neurofibromatosis type 1 associated gastrointestinal stromal tumors

目的:探讨神经纤维瘤病1型(NF1)伴多发性胃肠道间质瘤(gastrointestinal stromal tumors,GIST)的病理特征、免疫表型及其特殊性。方法:分析1例NF1伴发GIST的临床表现、组织病理学及免疫表型特征,并复习文献。结果:患者女性,46岁。18岁时发现体表皮肤结节,未予治疗。婚后怀孕时,体表皮肤结节开始增多,以后逐渐满布全身。皮肤无瘙痒等其他不适。近因腹部阵发性疼痛,B超提示实质性占位。术中发现肿块位于空回肠浆膜下,多发性,约十余个。遂行部分空肠及肿块(2个)切除及左前臂皮肤结节活检。示空肠肿瘤瘤细胞丰富,呈梭形或卵圆形,可见小核仁,核分裂象可查见。免疫表型空肠肿瘤瘤细胞vimentin(3+)、CD117(2+)、CD34(2+)、MSA(1+)、S-100蛋白(-)、Ki-67低表达;(左上臂)皮肤肿瘤瘤细胞S-100蛋白(3+)、CD117(-)、CD34(-)、MSA(-)。术后未予放化疗,随访7个月,患者状况良好。结论:NF1相关的GIST为多发性,主要见于小肠,以梭形细胞成分为主,富细胞性,恶性度偏低。

Objective：To investigate the pathologic feature,immunophenotype and particularity of neurofibromatosis type 1（NF1）accompanied with multiple gastrointestinal stromal of tumors（GIST）.Methods：The clinical manifestation,histopathology and immunophenotype of the case of NF1 accompanied with GIST were analysed,and reviewed of the literatwre was reviwed.Results：The patient was a 46-year-old woman with a history of cutaneous nodules for 28 years,did not take any treatment.When she pregnanted after marriage,the cutaneous nodules number increased,and involving the face,trunk and limbs for over the entire skin surface.Recently,paroxysmal pain in the lower abdomen was appeared.The ultrasound revealed substantial masses in the abdomen.The subserosal nodules in the jejunum and the ileum were found at surgery,about a dozen more.The partial jejunum and the subserosal nodules（2 tumors） were resected.At the time of the procedure,one of the cutaneous lesions was also sampled.Tumor cells of the jejunum and ileum were rich in spindle-shaped or oval,small nucleoli,mitotic figures to be seen.Immunophenotype：（1）tumors located in the jejunum and ileum were positive for vimentin（3＋）,CD117（2＋）,CD34（2＋）,MSA（1＋）,negative for S-100 protein,low expression of Ki-67;（2）skin nodule on the left forearm：S-100 protein（3＋）,CD117（-）,CD34（-）,MSA（-）.No chemoradiation therapy after resection,at the 7th month,the patient was in good condition.Conclusions：NF1 associated GIST typically involves the small intestine and may be multifocal.The tumors are spindle cell in type with cellularity,low mitotic activity and low-grade.