偶发性和家族性髓性甲状腺癌:关于表现和结果的回顾性单中心研究
Antonio Prinzi1, Veronica Vella1, Agata Bosco2
1Endocrinology Unit, Department of Clinical and Experimental Medicine, Garibaldi-Nesima Medical Center, University of Catania, Catania, Italy.
Endocrine research
|October 17, 2024
概括
相比于零星的MTC (sMTC),遗传性髓性甲状腺癌 (hMTC) 在较年轻的年龄呈现出多焦点和双侧瘤. 然而,这两种形式都表现出类似的临床结果和组织病理特征.
科学领域:
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
背景情况:
- 骨髓甲状腺癌 (MTC) 是一种来自甲状腺C细胞的神经内分泌瘤.
- MTC可以是零星的 (sMTC) 或遗传的 (hMTC),hMTC与生殖线RET基因突变相关,并与多种内分泌新陈代谢综合征 (MEN 2A,MEN 2B) 或家族MTC (FMTC) 相关.
研究的目的:
- 为了比较间歇性 (sMTC) 和遗传性 (hMTC) 髓性甲状腺癌之间的临床,本病理学,生化和结果差异.
- 确定影响sMTC和hMTC患者疾病持续性和复发的因素.
主要方法:
- 对102名在2000年至2022年期间被诊断为组织学证实MTC的患者进行了回顾性分析.
- 排除通过遗传查诊断的MTC病例,以关注临床检测到的疾病.
主要成果:
- 遗传性MTC (hMTC) 患者表现出多焦点和双边瘤的发病率更高,并且比零星的MTC (sMTC) 患者年轻时被诊断出来.
- 在诊断时的瘤阶段,进展时间或hMTC和sMTC之间的持续/复发疾病率之间没有发现显著差异.
- 统一分析确定了在sMTC (瘤大小,甲状腺外延伸,淋巴结转移,色素,CEA) 和hMTC (淋巴结转移,色素,CEA) 中与持续/复发性疾病相关的特定因素.
结论:
- 尽管表现不同 (多焦点性,双边性,诊断时的年龄),遗传性和偶发性髓性甲状腺癌具有相似的本病学特征和临床结果.
- 特定的瘤特征和生化标志物与MTC的两种形式的疾病复发有关.
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