中华病理学杂志
中華病理學雜誌
중화병이학잡지
Chinese Journal of Pathology
2011年
5期
310-314
,共5页
胃肠道间质肿瘤%DNA突变分析%原癌基因蛋白质c-kit%免疫组织化学
胃腸道間質腫瘤%DNA突變分析%原癌基因蛋白質c-kit%免疫組織化學
위장도간질종류%DNA돌변분석%원암기인단백질c-kit%면역조직화학
Gastrointestinal stromal tumors%DNA mutational analysis%Proto-oncogene proteins c-kit%Immunohistochemistry
目的 探讨免疫组织化学在形态学典型、免疫组织化学CD117阴性胃肠道间质瘤(GIST)诊断中的意义.方法 对10例CD117阴性、形态学典型的GIST进行c-kit基因第9、11、13、17号外显子及血小板源性生长因子受体α(PDGFRA)基因第12和18号外显子的基因检测,同时所有病例均进行CD117、CD34、平滑肌肌动蛋白(SMA)、结蛋白、S-100蛋白、WT-1、DOG-1 的免疫组织化学染色(EnVision法).结果 10例中8例完成c-kit及PDGFRA基因的检测,仅1例有c-kit基因第9号外显子突变,余未发现基因突变.10例CD117阴性的病例9例CD34阳性,2例SMA局灶阳性.结蛋白和S-100蛋白均阴性.DOG1弥漫阳性者5例,1例弥漫弱阳性,2例局灶阳性,2例阴性.4例WT-1弥漫阳性,2例局灶阳性,1例有散在肿瘤细胞阳性,3例阴性.结论 对胃肠道及胃肠道外形态学典型、但CD117阴性的GIST病例,联合应用多种免疫组织化学标记有助于诊断.DOG-1和WT-1可作为补充加入到CD117阴性GIST的诊断中.
目的 探討免疫組織化學在形態學典型、免疫組織化學CD117陰性胃腸道間質瘤(GIST)診斷中的意義.方法 對10例CD117陰性、形態學典型的GIST進行c-kit基因第9、11、13、17號外顯子及血小闆源性生長因子受體α(PDGFRA)基因第12和18號外顯子的基因檢測,同時所有病例均進行CD117、CD34、平滑肌肌動蛋白(SMA)、結蛋白、S-100蛋白、WT-1、DOG-1 的免疫組織化學染色(EnVision法).結果 10例中8例完成c-kit及PDGFRA基因的檢測,僅1例有c-kit基因第9號外顯子突變,餘未髮現基因突變.10例CD117陰性的病例9例CD34暘性,2例SMA跼竈暘性.結蛋白和S-100蛋白均陰性.DOG1瀰漫暘性者5例,1例瀰漫弱暘性,2例跼竈暘性,2例陰性.4例WT-1瀰漫暘性,2例跼竈暘性,1例有散在腫瘤細胞暘性,3例陰性.結論 對胃腸道及胃腸道外形態學典型、但CD117陰性的GIST病例,聯閤應用多種免疫組織化學標記有助于診斷.DOG-1和WT-1可作為補充加入到CD117陰性GIST的診斷中.
목적 탐토면역조직화학재형태학전형、면역조직화학CD117음성위장도간질류(GIST)진단중적의의.방법 대10례CD117음성、형태학전형적GIST진행c-kit기인제9、11、13、17호외현자급혈소판원성생장인자수체α(PDGFRA)기인제12화18호외현자적기인검측,동시소유병례균진행CD117、CD34、평활기기동단백(SMA)、결단백、S-100단백、WT-1、DOG-1 적면역조직화학염색(EnVision법).결과 10례중8례완성c-kit급PDGFRA기인적검측,부1례유c-kit기인제9호외현자돌변,여미발현기인돌변.10례CD117음성적병례9례CD34양성,2례SMA국조양성.결단백화S-100단백균음성.DOG1미만양성자5례,1례미만약양성,2례국조양성,2례음성.4례WT-1미만양성,2례국조양성,1례유산재종류세포양성,3례음성.결론 대위장도급위장도외형태학전형、단CD117음성적GIST병례,연합응용다충면역조직화학표기유조우진단.DOG-1화WT-1가작위보충가입도CD117음성GIST적진단중.
Objective To study the immunophenotype and c-kit or platelet derived growth factor receptor alpha(PDGFRA)gene mutations in CD117-negative gastrointestinal stromal tumors(GISTs).Methods Ten cases of GISTs with typical histologic features but no CD117 expression were retrieved from the archival of Department of Pathology,Peking Union Medical College Hospital,China.The Cages were further evaluated for the presence of c-kit exons 9.11, 13 and 17 mutations and PDGFRA exons 12 and 18mutations.DNA was extracted from the paraffin-embedded tuinor tissue.The PCR products were sequenced directly for the mutations.An immunohistochemical study for CD117,CD34,smooth muscle actin,desmin,S-100 protein.WT-1 and DOC-1 Was also performed.Results Eight of the 10 Cases had the mutation tests completed.C-kit mumfion in exon 9 Wag detected in only one case.Amongst the 10 cases studied, CD34Wag expressed in 9 cases. Smooth muscle actin was focally positive in 2 cases.None of them expressed desmin or S-100 protein.DOG-1 and WT-1 were diffusely positive in 5 and 4 Cages.respectively.In addition.DOG1 Was diffusely but weakly positive in 1 case and focally expressed in 2 cages.Three cases were focally positive for WT-1.Conclusion Pathologic diagnosis of CD117-negative GISTs can be facilitated with the application of a panel of immunohistochemical markers.including DOG-1 and WT-1.