中华病理学杂志
中華病理學雜誌
중화병이학잡지
Chinese Journal of Pathology
2009年
9期
617-620
,共4页
孔梅%王艳丽%许林杰%滕晓东
孔梅%王豔麗%許林傑%滕曉東
공매%왕염려%허림걸%등효동
胃肠道间质肿瘤%小肠肿瘤%淋巴转移%肿瘤治疗方案%基因%c-kit
胃腸道間質腫瘤%小腸腫瘤%淋巴轉移%腫瘤治療方案%基因%c-kit
위장도간질종류%소장종류%림파전이%종류치료방안%기인%c-kit
Gastrointestinal stromal tumors%Intestinal naoplasms%Lymphatic metastasis%Antineoplastic protocols%Genes%c-kit
目的 探讨伴淋巴结转移的小肠恶性胃肠道间质瘤的临床病理特征、c-kit基因突变情况,以及对甲磺酸伊马替尼(imatinib mesylate,Glivec)的治疗反应.方法 对2例发生在小肠伴发淋巴结转移的胃肠道间质瘤进行光镜观察、免疫组织化学标志及基因突变分析并随访甲磺酸伊马替尼的治疗效果.结果 2例均为小肠浆膜面肿块,镜下观察肿瘤均以梭形细胞为主,伴有少量上皮样细胞,呈多结节状,并出现大片凝固性坏死;免疫组织化学标志肿瘤细胞CD117阳性,基因突变检测发现均存在c-kit基因第11号外显子的突变.例1显示第11号外显子559～569位点杂合性缺失,伴570、571位点TACATA杂合性突变为GACAGA;例2显示第11号外显子559～565杂合性缺失.结论 小肠胃肠道间质瘤伴淋巴结转移是一种少见病变,需要同发生在此处的其他恶性软组织肿瘤鉴别;该肿瘤对甲磺酸伊马替尼的治疗效果取决于c-kit基因的具体突变类型.
目的 探討伴淋巴結轉移的小腸噁性胃腸道間質瘤的臨床病理特徵、c-kit基因突變情況,以及對甲磺痠伊馬替尼(imatinib mesylate,Glivec)的治療反應.方法 對2例髮生在小腸伴髮淋巴結轉移的胃腸道間質瘤進行光鏡觀察、免疫組織化學標誌及基因突變分析併隨訪甲磺痠伊馬替尼的治療效果.結果 2例均為小腸漿膜麵腫塊,鏡下觀察腫瘤均以梭形細胞為主,伴有少量上皮樣細胞,呈多結節狀,併齣現大片凝固性壞死;免疫組織化學標誌腫瘤細胞CD117暘性,基因突變檢測髮現均存在c-kit基因第11號外顯子的突變.例1顯示第11號外顯子559～569位點雜閤性缺失,伴570、571位點TACATA雜閤性突變為GACAGA;例2顯示第11號外顯子559～565雜閤性缺失.結論 小腸胃腸道間質瘤伴淋巴結轉移是一種少見病變,需要同髮生在此處的其他噁性軟組織腫瘤鑒彆;該腫瘤對甲磺痠伊馬替尼的治療效果取決于c-kit基因的具體突變類型.
목적 탐토반림파결전이적소장악성위장도간질류적림상병리특정、c-kit기인돌변정황,이급대갑광산이마체니(imatinib mesylate,Glivec)적치료반응.방법 대2례발생재소장반발림파결전이적위장도간질류진행광경관찰、면역조직화학표지급기인돌변분석병수방갑광산이마체니적치료효과.결과 2례균위소장장막면종괴,경하관찰종류균이사형세포위주,반유소량상피양세포,정다결절상,병출현대편응고성배사;면역조직화학표지종류세포CD117양성,기인돌변검측발현균존재c-kit기인제11호외현자적돌변.례1현시제11호외현자559～569위점잡합성결실,반570、571위점TACATA잡합성돌변위GACAGA;례2현시제11호외현자559～565잡합성결실.결론 소장위장도간질류반림파결전이시일충소견병변,수요동발생재차처적기타악성연조직종류감별;해종류대갑광산이마체니적치료효과취결우c-kit기인적구체돌변류형.
Objective To study the clinicopathologic features of gastrointestinal stromal tumor (GIST)of small intestine with lymph node metastasis and evaluate the respond to imatinib mesylate (Glivec)therapy.Methods Two cases of GIST of small intestine associated with lymph node metastasis were collected and investigated by light microscopy and immunohistochemistry.Mutation in exon 9,11 and of c-kit gene were analyzed by polymerase chain reaction and DNA sequencing.Results The cases presented as small intestinal mass of irregular shape.Histologically,the tumors consisted of epithelioid and spindled cells,with areas of coagulative necrosis and hemorrhage.The mitotic count measured about 2 per 50 highpower fields.Immunohistochemical study showed that the tumor cells were diffusely distributed and strongly positive for CD117.Mutation analysis revealed that case 1 had an in-frame deletion of 11 amino-acid residues corresponding to 559-569 and carried two missense mutions involving codons 570,571 in exon 11 of c-kit gene.Case 2 revealed an in-frame deletion involved condons 559-565 in exon 11 of c-kit gene.These two cases were all underwent primary chemotherapy with imatinib mesylate and without new tumor was found during follow-up periods(18,26 monthes)after operation.Conclusions GIST with nodal metastasis is very rare and needs to be distinguished from other soft tissue sarcomas occurring in this site.The responsiveness to imatinib mesylate therapy correlates with the mutation status of c-kit gene.
