Medical Genomics and Metabolic Genetics Branch.
Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Ann Am Thorac Soc. 2022 Nov;19(11):1871-1880. doi: 10.1513/AnnalsATS.202111-1214OC.
Limited information is available regarding cystic lung disease in syndrome, a rare overgrowth disorder caused by a somatic activating variant in . To define the phenotype of cystic lung disease in syndrome. Medical records, pulmonary function tests, and chest computed tomography of 39 individuals with syndrome evaluated at a single center were retrospectively reviewed. Lung histopathology from five affected individuals was examined. Cystic lung disease affected 26 (67%) of 39 individuals. The mean age of affected individuals was 17.1 years. The lung cysts varied in size and location. Focal regions of heterogeneous lung parenchyma resembling emphysema were found in 81% of affected individuals. Mass effect was seen in 12% of affected individuals; pneumothorax occurred in one. Dyspnea and respiratory infections were reported by 38% and 35% of affected individuals, respectively. Abnormal pulmonary function and scoliosis were found in 96% of affected individuals. Lung disease progressed in seven of 10 affected individuals, and all five affected individuals younger than 20 years of age had progressive cystic lung disease. Three affected individuals had symptomatic improvement after lung resection. Histopathology showed cystic air space enlargement of varying severity. Cystic lung disease is common in syndrome and is likely to progress in affected individuals younger than 20 years of age. Screening asymptomatic individuals with syndrome for cystic lung disease is indicated. Surgical lung resection is a therapeutic option for affected individuals with severe disease. Clinical trial registered with www.clinicaltrials.gov (NCT00001403).
关于综合征中囊性肺病的信息有限，综合征是一种罕见的过度生长障碍，由体细胞激活变异引起。为了定义综合征中囊性肺病的表型。回顾性分析了在一家中心评估的 39 名综合征患者的病历、肺功能测试和胸部计算机断层扫描。检查了五个受影响个体的肺组织病理学。囊性肺病影响了 39 名个体中的 26 名（67%）。受影响个体的平均年龄为 17.1 岁。肺囊肿大小和位置不一。在 81%的受影响个体中发现了类似于肺气肿的不均匀肺实质局灶性区域。在 12%的受影响个体中观察到肿块效应；气胸发生在一个中。呼吸困难和呼吸道感染分别发生在 38%和 35%的受影响个体中。96%的受影响个体存在异常肺功能和脊柱侧凸。在 10 名受影响个体中的 7 名中，疾病进展，所有 5 名年龄小于 20 岁的受影响个体均有进展性囊性肺病。3 名受影响个体在肺切除术后症状有所改善。组织病理学显示囊性气腔扩张程度不同。囊性肺病在综合征中很常见，并且可能在年龄小于 20 岁的受影响个体中进展。建议对无症状的综合征患者进行囊性肺病筛查。对于患有严重疾病的受影响个体，肺切除术是一种治疗选择。临床试验在 www.clinicaltrials.gov 上注册（NCT00001403）。
