乳红细胞瘤:一个不断变化的视角和当前的概念
Andreas Kiriakopoulos1, Periklis Giannakis2, Evangelos Menenakos2
1Department of Surgery, 'Evgenidion Hospital', National and Kapodistrian University of Athens School of Medicine, 5th Surgical Clinic, Papadiamantopoulou 20 Str, PO: 11528, Athens 11528, Greece.
Therapeutic advances in endocrinology and metabolism
|November 2, 2023
概括
个性化基因检测和先进诊断对于及时诊断染细胞瘤和骨瘤 (PPGL) 是至关重要的. 管理包括手术,化疗或放射性核素,强调多学科和个性化的方法.
科学领域:
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 乳红细胞瘤和偏角细胞瘤 (PPGL) 呈现变化,往往缺乏经典症状,需要先进的诊断策略.
- 遗传突变占PPGL病例的40-60%,这突显了个性化遗传测试的重要性.
- 过量catecholamine和质量效应是PPGL症状的主要驱动因素,影响心血管系统.
研究的目的:
- 审查当前的概念,在诊断和管理的花色细胞瘤和横瘤 (PPGL).
- 在PPGL工作中强调个性化基因测试和先进分子标记物的作用.
- 概述PPGL的最佳诊断和治疗策略,包括成像和治疗方式.
主要方法:
- 对PPGL诊断和管理的当前文献的综述.
- 诊断技术的分析,包括遗传测试,下一代测序,代谢学和NETest.
- 评估成像方式,如CT,PET/CT和放射性核素扫描.
- 评估治疗策略,包括手术,化疗和放射性核酸治疗.
主要成果:
- 个性化基因测试和下一代测序对于识别突变和推进知识至关重要.
- 通过LC-MS/MS测量的自由血/尿中甲醇胺代谢物是第一线诊断试验,具有个性化的参考间隔.
- 对于色细胞瘤,CT是首选的,而功能性成像改善了对额外上腺,恶性或家族性PPGL的准确性.
- 手术是主要的治疗方法,手术前的α-上腺体阻断降低了发病率;化疗和放射性核素被用于转移或较轻的病例.
结论:
- 多学科的方法,精确的时间和个性化策略对于成功的PPGL诊断和管理至关重要.
- 早期识别高风险个体和使用个性化方法及时诊断至关重要.
- 长期监测对于无症状携带者和患者来说很重要,以监测复发或转移.
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