Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892, USA.
J Clin Endocrinol Metab. 2022 Nov 25;107(12):e4371-e4378. doi: 10.1210/clinem/dgac500.
The skeletal phenotype of patients with MEN2B has been described but fracture risk in these patients has not yet been evaluated.
This work aims to better delineate fracture risk in patients with multiple endocrine neoplasia type 2B (MEN2B).
This case series with chart review was conducted at the National Institutes of Health, Pediatric Oncology Branch. A total of 48 patients with MEN2B were identified, with an age range of 5 to 36 years, median of 19; 24 of 48 (50%) patients were female. Medical records, demographic information, available imaging, and laboratory results were reviewed. History up to age 19 was included in the statistical analyses.
Of the 48 patients with MEN2B, 20 patients experienced at least one fracture. The majority (n = 18) experienced their first fracture at or before age 19. The observed frequency of fracture occurrence throughout childhood (0-19 years) was 38%, with very little difference between males and females. This frequency is higher than the 9.47 to 36.1 fractures per 1000 persons per year that has been reported in healthy pediatric cohorts in the United States. Less common sites of fracture including vertebral compression fracture and pelvic fractures were observed in patients with MEN2B.
In this group of patients with MEN2B, there was an increased overall risk of fracture compared to general pediatric cohorts in the United States. Less common sites of fracture were also observed. This suggests a possible effect of an activating RET mutation on bone physiology and warrants further investigation.
已描述 MEN2B 患者的骨骼表型，但尚未评估这些患者的骨折风险。
本研究旨在更好地阐明多发性内分泌肿瘤 2B 型（MEN2B）患者的骨折风险。
本病例系列研究与图表回顾在国立卫生研究院儿科肿瘤学处进行。共确定了 48 例 MEN2B 患者，年龄 5 至 36 岁，中位数为 19 岁；48 例患者中有 24 例（50%）为女性。回顾了病历、人口统计学信息、可用的影像学和实验室结果。将 19 岁之前的病史纳入统计分析。
在 48 例 MEN2B 患者中，有 20 例患者至少经历过一次骨折。大多数（n=18）患者在 19 岁或之前首次发生骨折。在儿童期（0-19 岁）观察到的骨折发生率为 38%，男性和女性之间几乎没有差异。这一频率高于美国健康儿科队列报告的每 1000 人每年 9.47 至 36.1 次骨折。在 MEN2B 患者中还观察到较少见的骨折部位，包括椎体压缩性骨折和骨盆骨折。
在这组 MEN2B 患者中，与美国一般儿科队列相比，整体骨折风险增加。也观察到较少见的骨折部位。这表明激活 RET 突变可能对骨骼生理学有影响，需要进一步研究。
