Kim Ja Hye
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Ewha Med J. 2024 Jan;47(1):e4. doi: 10.12771/emj.2024.e4. Epub 2024 Jan 31.
Endocrine tumor syndromes constitute a group of disorders characterized by tumors in hormone-producing tissues. These conditions predominantly affect younger patients and often have a familial inheritance. Advances in molecular genetics in recent decades have facilitated the identification of several genes associated with these tumors. The recent World Health Organization classification of adrenocortical tumors integrates the latest developments in pathology, oncology, and molecular biology. In addition, this updated classification includes adrenal cortical diseases based on an understanding of germline susceptibility to these conditions and their clonal-neoplastic nature. Catecholamine-secreting tumors, including pheochromocytoma and paraganglioma, have been found to have a genetic predisposition in as many as 80% of cases. Compared to sporadic cases, endocrine tumor syndromes are more likely to present bilaterally and show synchronous or metachronous disease. This highlights the critical need for early diagnosis, intervention, and ongoing surveillance. This review focuses on the clinical manifestations and genetic basis of endocrine tumor syndromes originating from the adrenal glands.
内分泌肿瘤综合征是一组以激素产生组织中的肿瘤为特征的疾病。这些病症主要影响年轻患者,且常具有家族遗传性。近几十年来分子遗传学的进展有助于鉴定与这些肿瘤相关的多个基因。世界卫生组织最近对肾上腺皮质肿瘤的分类整合了病理学、肿瘤学和分子生物学的最新进展。此外,这一更新分类基于对这些病症的种系易感性及其克隆性肿瘤性质的理解,纳入了肾上腺皮质疾病。已发现包括嗜铬细胞瘤和副神经节瘤在内的儿茶酚胺分泌肿瘤在多达80%的病例中具有遗传易感性。与散发性病例相比,内分泌肿瘤综合征更有可能双侧出现,并表现为同步或异时性疾病。这凸显了早期诊断、干预和持续监测的迫切需求。本综述重点关注源自肾上腺的内分泌肿瘤综合征的临床表现和遗传基础。