Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Developmental Therapeutics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
J Clin Endocrinol Metab. 2020 Sep 1;105(9):2919-28. doi: 10.1210/clinem/dgaa296.
Multiple endocrine neoplasia type 2B (MEN2B) is a rare cancer predisposition syndrome resulting from an autosomal-dominant germline mutation of the RET proto-oncogene. No prior studies have investigated pulmonary function in patients with MEN2B.
This study characterized the pulmonary function of patients with MEN2B.
This is a retrospective analysis of pulmonary function tests (PFTs) and chest imaging of patients enrolled in the Natural History Study of Children and Adults with MEN2A or MEN2B at the National Institutes of Health.
Thirty-six patients with MEN2B (18 males, 18 females) were selected based on the availability of PFTs; 27 patients underwent at least 2 PFTs and imaging studies. Diffusion abnormalities were observed in 94% (33/35) of the patients, with 63% (22/35) having moderate to severe defects. A declining trend in diffusion capacity was seen over time, with an estimated slope of -2.9% per year (P = 0.0001). Restrictive and obstructive abnormalities were observed in 57% (20/35) and 39% (14/36), respectively. Computed tomography imaging revealed pulmonary thin-walled cavities (lung cysts) in 28% (9/32) of patients and metastatic lung disease in 34% (11/32) of patients; patients with metastatic lung lesions also tended to have thin-walled cavities (P = 0.035).
This study characterized pulmonary function within a MEN2B cohort. Diffusion, restrictive, and obstructive abnormalities were evident, and lung cysts were present in 28% of patients. Further research is required to determine the mechanism of the atypical pulmonary features observed in this cohort.
多发性内分泌腺瘤病 2B 型（MEN2B）是一种罕见的癌症易感性综合征，由 RET 原癌基因的常染色体显性突变引起。以前没有研究调查过 MEN2B 患者的肺功能。
本研究描述了 MEN2B 患者的肺功能。
这是对美国国立卫生研究院的 MEN2A 或 MEN2B 儿童和成人自然史研究中纳入的患者的肺功能测试（PFT）和胸部成像进行的回顾性分析。
根据 PFT 的可用性，选择了 36 名 MEN2B 患者（18 名男性，18 名女性）；27 名患者至少进行了 2 次 PFT 和影像学研究。在 94%（33/35）的患者中观察到弥散异常，其中 63%（22/35）有中度至重度缺陷。弥散能力随时间呈下降趋势，每年估计斜率为-2.9%（P = 0.0001）。分别有 57%（20/35）和 39%（14/36）的患者存在限制性和阻塞性异常。计算机断层扫描成像显示 28%（9/32）的患者存在肺薄壁空洞（肺囊肿），34%（11/32）的患者存在转移性肺部疾病；有转移性肺部病变的患者也倾向于存在薄壁空洞（P = 0.035）。
本研究描述了 MEN2B 队列中的肺功能。弥散、限制性和阻塞性异常明显，28%的患者存在肺囊肿。需要进一步研究以确定该队列中观察到的非典型肺部特征的机制。
