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目的探讨遗传性甲状腺髓样癌的诊断及诊疗,为其早期诊断及正确治疗提供依据。方法总结遗传性性甲状腺髓样癌患者的临床资料,对其病因、早期诊断及治疗等方面进行探讨。结果遗传性性甲状腺髓样癌是一种由RET原癌基因的种系突变引起的常染色体显性综合征。发病通常是多病灶性和双侧性的,并且大部分(95%)都发生在年轻人;合理的手术治疗可以取得满意的疗效。结论遗传性性甲状腺髓样癌是一种遗传性疾病,早期诊断、合理的手术治疗治疗可以取得满意的疗效。患者家族成员应长期随访。
Objective To investigate the diagnosis, diagnosis and treatment of hereditary medullary thyroid carcinoma and provide the basis for its early diagnosis and correct treatment. Methods To summarize the clinical data of patients with hereditary medullary thyroid carcinoma, and to explore its etiology, early diagnosis and treatment. Results Hereditary medullary thyroid carcinoma is an autosomal dominant syndrome caused by a germline mutation of the RET protooncogene. The incidence is usually multifocal and bilateral, and most (95%) occur in young people; reasonable surgical treatment can achieve satisfactory results. Conclusion Hereditary thyroid medullary carcinoma is a hereditary disease. Early diagnosis and reasonable surgical treatment can achieve satisfactory results. Patients should be long-term follow-up.