Yami Channaiah Chethan, Karlekar Manjiri, Sarathi Vijaya, Lila Anurag Ranjan, Ravindra Shruthi, Badhe Padma Vikram, Malhotra Gaurav, Memon Saba Samad, Patil Virendra Ashokrao, Pramesh C S, Bandgar Tushar
Department of Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai 400012, India.
Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bengaluru 560066, India.
Eur J Endocrinol. 2023 Oct 17;189(4):S75-S87. doi: 10.1093/ejendo/lvad133.
The data on clinical, biochemical, radiological characteristics, and outcomes in paediatric ectopic adrenocorticotropic hormone syndrome (EAS) are limited owing to rarity of the condition. We report three new cases and perform a systematic review of paediatric EAS.
Case records of paediatric and adolescent EAS patient's ≤20 years presenting at our centre between 1997 and 2021 were retrospectively reviewed, and a systematic review of the literature published between January 1970 and December 2022 was performed.
A total of 161 patients including 3 new patients from our centre were identified. Bronchial neuroendocrine tumours (NET) (28.5%), thymic NET (22.9%), primitive cell-derived tumours (18.6%), and gastro-entero-pancreatic-NET (13.7%) were the common causes. Primitive cell-derived tumours were the most common in the first decade (24/45, 53.4%) and were the largest (82 [60-100] mm), whereas bronchial NETs predominated during the second decade (42/116, 36.2%) and were the smallest (15 [10-25] mm). Computed tomography localized 92.9% (118/127) of paediatric EAS patients. Immediate postoperative remission was attained in 77.9% (88/113) patients, whereas 30.4% (24/79) relapsed over a median (IQR) period of 13 (8-36) months. Over a median (IQR) follow-up of 2 (0.6-4.6) years, 31.4% of patients died. The median survival was higher in bronchial NET than in other tumour groups. Distant metastasis and tumour size were independent negative predictors of survival.
Aetiological profile of paediatric and adolescent EAS is distinct from that of adults. Bronchial NETs have the best long-term survival, whereas distant metastasis and tumour size predict poor survival.
由于小儿异位促肾上腺皮质激素综合征（EAS）病例罕见，其临床、生化、放射学特征及预后的数据有限。我们报告3例新病例，并对小儿EAS进行系统评价。
回顾性分析1997年至2021年在我院就诊的年龄≤20岁的小儿及青少年EAS患者的病例记录，并对1970年1月至2022年12月发表的文献进行系统评价。
共纳入161例患者，包括我院3例新病例。常见病因包括支气管神经内分泌肿瘤（NET）（28.5%）、胸腺NET（22.9%）、原始细胞源性肿瘤（18.6%）和胃肠胰NET（13.7%）。原始细胞源性肿瘤在第一个十年最为常见（24/45，53.4%），且肿瘤最大（82 [60 - 100] mm），而支气管NET在第二个十年占主导（42/116，36.2%），且肿瘤最小（15 [10 - 25] mm）。计算机断层扫描对92.9%（118/127）的小儿EAS患者进行了定位。77.9%（88/113）的患者术后立即缓解，而30.4%（24/79）的患者在中位（四分位间距）13（8 - 36）个月时复发。在中位（四分位间距）2（0.6 - 4.6）年的随访中，31.4%的患者死亡。支气管NET患者的中位生存期高于其他肿瘤组。远处转移和肿瘤大小是生存的独立负性预测因素。
小儿及青少年EAS的病因学特征与成人不同。支气管NET的长期生存率最佳，而远处转移和肿瘤大小提示预后不良。
