Pulmonary lymphangioleiomyomatosis.
Lymphangioleiomyomatosis is an uncommon lung disease primarily affecting women of childbearing age. It is characterized by the progressive proliferating and infiltrating smooth musclelike cells (lymphangioleiomyomatosis cells), which lead to the cystic destruction of the lung parenchyma; obstruction of airways, blood vessels, and lymphatics; and loss of pulmonary function. Lymphangioleiomyomatosis cells coexpress smooth muscle markers (such as smooth muscle actin and desmin) and melanocytic markers (such as HMB-45, Melan-A/MART-1, and microphthalmia transcription factor). Dyspnea on exertion and recurrent pneumothorax are the most common clinical features. Somatic or genetic mutations of tumor suppressor genes tuberous sclerosis complex (TSC) 1 or TSC2 are closely related to lymphangioleiomyomatosis. The TSC1/TSC2 protein-related signaling pathways are involved in the pathogenesis and may provide novel therapeutic targets for lymphangioleiomyomatosis and diseases associated with TSC1 / TSC2 dysfunction.
Department of Pathology, State University of New York, Downstate Medical Center, Brooklyn, 11203, USA. xuchen.zhang@downstate.edu
Xuchen
X
Zhang
William D
WD
Travis
D015415:Biomarkers / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008171:Lung Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D018192:Lymphangioleiomyomatosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D009154:Mutation; D015398:Signal Transduction; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000378:metabolism
D015415:Biomarkers; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins