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在多重内分泌新陈代谢1型下垂体瘤患者的特征,并比较不同的突变状态
Kuan-Yu Lin1, Yu-Ting Kuo2, Mei-Fang Cheng3,4
1Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital, Yunlin Branch, Douliu City 640203, Taiwan.
The Journal of clinical endocrinology and metabolism
|June 30, 2023
概括
多重内分泌瘤1型 (MEN1) 患者的垂体瘤 (PIT) 根据MEN1突变而有所不同. 与没有突变的患者相比,具有突变和PIT的患者表现出更多的瘤,更高的上腺瘤发病率和更早的MEN1发病率.
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:
- 最近的研究表明,多重内分泌瘤1型 (MEN1) 中的垂体瘤 (PIT) 可能不如以前想象的那么具有攻击性.
- 增加垂体成像导致在MEN1患者中更早检测PIT.
- 不同的MEN1突变对PIT特征的影响尚不清楚.
研究的目的:
- 描述患有MEN1的患者,有或没有PIT.
- 为了在具有不同MEN1突变的患者中比较PIT特征.
主要方法:
- 来自第三级推中心的MEN1患者数据 (2010-2023) 的回顾性分析.
- 包括42名MEN1患者,评估PIT存在,侵入性和管理.
- 基因定型以确定MEN1突变并与临床特征相关联.
主要成果:
- 在42名MEN1患者中,有24名患有PIT,3名患有侵入性PIT.
- 患有PIT的患者在更高的中位年龄被诊断出来.
- 在57.1%的患者中发现了MEN1突变.
- 与没有突变但有PIT (突变-/PIT+) 的患者相比,患有MEN1突变和PIT (突变+/PIT+) 的患者患有更多相关瘤,上腺瘤发病率较高,MEN1发病时间较早.
- 非功能性PIT在突变+/PIT+组中更为常见,而胰岛素分泌PIT在突变/PIT+组中更为常见.
结论:
- 这项研究是第一个在不同突变之间比较有和没有PIT的MEN1患者.
- 没有MEN1突变的患者通常表现出较少的器官参与.
- 对于没有发现突变的MEN1患者来说,可能不那么密集的随访适合.
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