遗传性甲状腺髓样癌16例临床病理特征及预后分析

Clinicopathological features and prognosis of hereditary medullary thyroid carcinoma

目的探讨遗传性甲状腺髓样癌(hereditary medullary thyroid carcinoma,HMTC)的临床病理特征及预后。方法收集空军军医大学西京医院病理科2007~2021年收治的16例HMTC,结合文献复习总结其临床病理特征及预后。结果16例HMTC中5例男性,11例女性,年龄10~72岁,中位年龄37岁。均表现为甲状腺双侧包块,其中8例为多灶性,8例伴肾上腺嗜铬细胞瘤,3例伴甲状旁腺腺瘤;16例中15例为手术切除标本,1例为FNA标本。切除标本中肿瘤细胞呈巢团状、小梁状或岛状排列,细胞呈圆形、梭形或多角形,核圆形或椭圆形,染色质呈颗粒状,间质内可见淀粉样蛋白沉积。FNA标本中肿瘤细胞以单个细胞为主,部分胞质丰富,部分稀少,核偏位,染色质呈颗粒状。免疫表型:CK(AE1/AE3)、Syn、CgA、CD56、Calcitonin、CEA、TTF-1阳性,TG、PTH阴性。4例检测到RET基因胚系突变。随访时间7个月~13年,1例术后复发,1例术后8个月死亡。结论HMTC与散发性甲状腺髓样癌组织学表现相似,诊断需结合临床病史、家族史、病理特征及RET基因检测。术前行FNA可指导HMTC患者手术时间,并帮助患者的一级亲属进行早期遗传学咨询及早期干预。

Purpose To investigate the clinicopathological features and prognosis of hereditary medullary thyroid carcinoma(HMTC).Methods 16 cases of HMTC in the Department of Pathology of Xijing Hospital,Air Force Military Medical University from 2007 to 2021 were collected.Combined with literature review,the clinicopathological features and prognosis were summarized.Results Among the 16 cases of HMTC,there were 5 males and 11 females,aged 10-72 years,with a median age of 37 years.Both showed bilateral thyroid masses,including 8 cases of multifocal,8 cases with adrenal pheochromocytoma and 3 cases with parathyroid adenoma.Of the 16 cases,15 cases were surgical specimens and 1 case was FNA specimen.The tumor cells in the resected specimens were arranged into nests,trabeculae or islands.The cells were round,spindle or polygonal,the nucleus was round or oval,the chromatin was granular,amyloid deposition could be seen in the stroma,and some cases were accompanied by calcification.The tumor cells in FNA specimens were mainly single cells,some had abundant cytoplasm,some were sparse,the nucleus was biased,the chromatin was coarsely granular.Immunohistochemical staining showed the tumor cells were positive for CK(AE1/AE3),Syn,CgA,CD56,Calcitonin,CEA and TTF-1,but negative for TG and PTH.Mutations of RET gene germline were detected in 4 cases.During follow-up from 7 months to 13 years,1 case recurred and 1 case died 8 months after operation.Conclusion The histological manifestations of HMTC and sporadic medullary thyroid carcinoma are similar.The diagnosis of HMTC should be combined with clinical history,family history,pathological features and RET gene detection.Preoperative FNA can guide the operation time of HMTC patients and help the first-degree relatives of patients with early genetic counseling and early intervention.