Boronat Susana, Barber Ignasi, Thiele Elizabeth Anne
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts.
Department of Pediatric Neurology, Vall d'Hebron Hospital, Universitat Autònoma de Barcelona, Barcelona, Spain.
Am J Med Genet A. 2017 Jul;173(7):1891-1895. doi: 10.1002/ajmg.a.38260. Epub 2017 May 9.
Tuberous sclerosis complex (TSC) is due to pathogenic variants in TSC1 or TSC2 genes resulting in hyperactivation of the mTOR pathway. Many organ systems can be affected, such as brain, skin, eye, heart, bone, kidney, or lung. Sclerotic bone lesions have been reported as frequent findings in TSC although they are not considered diagnostic criteria. The objective of this study is to characterize sclerotic bone lesions detected by chest CT in a large cohort of adult TSC patients and to correlate with genotype. Chest CT scans of 92 adult patients with a definite clinical diagnosis of TSC were reviewed. Sclerotic bone lesions were found in 82 cases (89%) and affected mainly the posterior vertebral elements. Patients without bone lesions had negative mutational studies of TSC1/TSC2 in 86%. Awareness of these lesions in TSC is important to avoid misdiagnosis with osteoblastic metastases.
结节性硬化症（TSC）是由TSC1或TSC2基因的致病性变异导致mTOR通路过度激活引起的。许多器官系统都可能受到影响，如脑、皮肤、眼、心脏、骨骼、肾脏或肺。尽管硬化性骨病变不被视为诊断标准，但在TSC中已被报道为常见发现。本研究的目的是对一大群成年TSC患者胸部CT检测到的硬化性骨病变进行特征描述，并与基因型相关联。回顾了92例临床确诊为TSC的成年患者的胸部CT扫描。82例（89%）发现有硬化性骨病变，主要累及椎体后部结构。无骨病变的患者中，86%的TSC1/TSC2突变研究为阴性。认识TSC中的这些病变对于避免与成骨性转移瘤的误诊很重要。
