两例家族性甲状腺髓样癌临床病理分析与文献复习  

Two cases of familial medullary thyroid carcinoma and literature review

作　　者：宋艳芳 史晓兰 周莉[1] Song Yanfang;Shi Xiaolan;Zhou Li(Pathology department,Liaocheng second people’s hospital(Shandong first medical university affiliated liaocheng second hospital),Liaocheng 252600)

机构地区：[1]聊城市第二人民医院(山东第一医科大学附属聊城二院)病理科,聊城252600

出　　处：《中国组织化学与细胞化学杂志》2024年第3期250-255,共6页Chinese Journal of Histochemistry and Cytochemistry

摘　　要：目的探讨家族性甲状腺髓样癌(familial medullary thyroid carcinoma,FMTC)的临床病理学特征、诊断与鉴别诊断、治疗及预后。方法分析并观察2例FMTC的临床资料、病理学及免疫组化表型特征,免疫组化采用En Vision法检测CT、TG、GATA3、TTF-1(-)、Syn、CgA、CEA、CyclinD1、p63、Ki-67、CD56的表达。结果2例FMTC患者为父女,年龄分别为16岁、41岁,均以颈部肿块就诊,例1肿瘤细胞排列成巢状和条索状,细胞呈胖梭形或多边形,胞浆淡染粉色,核圆形或卵圆形,染色质呈细颗粒状,间质内可见多少不等的淀粉样物。例2肿瘤细胞呈片状排列,部分呈巢状、腺样排列,细胞呈圆形或多边形,细胞浆粉染或空淡,染色质呈颗粒状,间质内可见片状淀粉样物。2例术前血清PTH、CEA、CT均显著升高,TTF-1、Syn、CgA、CEA、CD56、Cyclin D1、CT均阳性表达,TG在例1和例2肿瘤细胞均阴性表达。结论FMTC罕见,需要与甲状腺未分化癌、SMTC、副节瘤和滤泡上皮肿瘤鉴别,借助于免疫组化TTF-1、Syn、CgA、CEA、CD56、CyclinD1、CT、TG辅助诊断,血清CT、CEA可辅助术前诊断和预测术后预后。Objective To explore the clinicopathological characteristics,diagnosis and differential diagnosis,treatment,and prognosis of familial medullary thyroid carcinoma(FMTC).Methods The clinical data,pathological and immunohistochemical phenotype characteristics of 2 cases of FMTC were analyzed and observed.Immunohistochemistry was performed using the En Vision method to detect the expression of CT,TG,GATA3,TTF-1,Syn,CgA,CEA,CyclinD1,p63,Ki-67,and CD56.Results The two FMTC patients were father and daughter,aged 16 and 41 years,respectively,both presenting with neck masses.In case 1,tumor cells were arranged in nests and cords,with cells being plump spindle-shaped or polygonal,cytoplasm pale pink stained,nuclei round or oval,chromatin fine granular,and amyloid substances of varying amounts visible in the interstitium.In case 2,tumor cells were arranged in sheets,partially in nests and glandular patterns,cells were round or polygonal,cytoplasm pink stained or pale,chromatin granular,and patchy amyloid substances visible in the interstitium.Serum PTH,CEA,and CT were significantly elevated before surgery in both cases,and TTF-1,Syn,CgA,CEA,CD56,Cyclin D1,and CT were all positively expressed,while TG was negatively expressed in tumor cells of both cases 1 and 2.Conclusion FMTC is rare and needs to be differentiated from undifferentiated thyroid carcinoma,SMTC,paraganglioma,and follicular epithelial tumors.Immunohistochemistry with TTF-1,Syn,CgA,CEA,CD56,CyclinD1,CT,and TG can assist in diagnosis,and serum CT and CEA can aid in preoperative diagnosis and predict postoperative prognosis.

关 键 词：家族性甲状腺髓样癌 临床病理特征 鉴别诊断 免疫组化表型 

分 类 号：R736.1[医药卫生—肿瘤]