甲状腺髓样癌:病例系列报告及文献回顾

E. Rezkallah, Andrew Elsaify, W. Elsaify
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摘要

背景:甲状腺髓样癌(MTC)是一种罕见的神经内分泌肿瘤,起源于甲状腺的c细胞。大约20- 25%的MTC病例可能与遗传性综合征如MEN 2A, MEN 2B和家族性MTC有关。生存率主要与患者的年龄、疾病分期和手术切除的完成程度有关。方法:回顾性分析2011年至2021年在我院普外科诊断为甲状腺髓样癌的11例患者。所有患者术前评估包括病史、临床检查、肿瘤标志物(降钙素和CEA)、甲状腺功能检查、超声检查和FNAC。所有患者都进行了基因评估,以排除任何潜在的基因突变。结果:平均诊断年龄为57.73±16.45岁。男性3例,女性8例。除1例患者因家族遗传性RET突变行预防性甲状腺切除术外,所有患者均行甲状腺全切除术、中央及外侧颈部清扫术。2例复发;两例均为高分期肿瘤(T3、T4)伴多发颈部淋巴结转移。血清降钙素检测MTC的敏感性约为98%。与晚期疾病患者相比,局部疾病并接受完全手术切除的患者具有良好的总生存率。结论:MTC是一种异质性的甲状腺癌。总生存率优于未分化甲状腺癌。完全切除甲状腺肿瘤和任何局部或区域转移是MTC患者唯一的治疗方法。我们对MTC的认识和管理还需要进一步的研究。
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Medullary Thyroid Cancer: Case Series Reports and Literature Review
Background: Medullary thyroid carcinoma (MTC) is a rare neuro-endocrine tumor that arises from the C-cells of the thyroid. About 20- 25 % of MTC cases may be associated with hereditary syndromes like MEN 2A, MEN 2B and Familial MTC. The survival rate is related mainly to the age of the patient, stage of the disease and completion of the surgical resection. Methods: Retrospective review of 11 patients who were diagnosed with medullary thyroid cancer in our general surgery department during the period from 2011 to 2021. All patients had preoperative assessment including history taking, clinical examination, tumor marker (calcitonin and CEA), thyroid function testing, ultrasonography and FNAC. All patients underwent genetic assessment to exclude any underlying genetic mutation. Results: The mean age of diagnosis was 57.73 ± 16.45 years of age. Three patients were males and eight were females. All patients had total thyroidectomy, central and lateral neck dissection except one patient who had prophylactic thyroidectomy due to familial inherited RET mutation. Two patients had recurrence; both of them had high-stage tumor (T3 and T4) with multiple cervical lymph nodes metastasis. The sensitivity of serum calcitonin for the detection of MTC was about 98%. Patients, who had localized disease and underwent complete surgical resection, had good overall survival rates compared with patients with advanced disease. Conclusion: MTC represent a heterogeneous group of thyroid cancers. The overall survival is better than that of undifferentiated thyroid cancers. Complete resection of the thyroid tumor and any local or regional metastases provides the only cure for patients with MTC. Further researches are still needed to improve our understanding and management of MTC.
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