Theegarten D, Hager T
Institut für Pathologie, Universitätsklinikum Essen, Hufelandstr. 55, 44145, Essen, Deutschland.
Pathologe. 2021 Feb;42(1):35-39. doi: 10.1007/s00292-020-00901-w. Epub 2021 Jan 8.
Lymphangioleiomyomatosis (LAM) is a rare lung disease that mostly occurs in female patients. A total of 200-400 people are assumed to be infected in Germany. A sporadic form and a form associated with the tuberous sclerosis complex (TSC) can be separated. Mutations of the TSC‑1 and TSC‑2 genes are relevant. Morphologically, pulmonary multicysts and marginal micronodal proliferations of LAM cells are characteristic. Combinations with renal angiomyolipoma are typical and, in cases with TSC glioma, facial angiofibroma and ungual fibroma are seen. Prognosis is favorable (10-year survival: 80%) and with the use of mTORC1 inhibitors it could be improved. Lung transplantation can be considered in some cases.
淋巴管平滑肌瘤病（LAM）是一种罕见的肺部疾病，主要发生于女性患者。据推测，德国共有200 - 400人感染此病。可分为散发性形式和与结节性硬化症（TSC）相关的形式。TSC-1和TSC-2基因的突变与之相关。在形态学上，肺部多囊和LAM细胞的边缘微结节增殖具有特征性。与肾血管平滑肌脂肪瘤合并较为典型，在伴有TSC的病例中，可见脑胶质瘤、面部血管纤维瘤和甲下纤维瘤。预后良好（10年生存率：80%），使用mTORC1抑制剂可改善预后。在某些情况下可考虑肺移植。
