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- Title
Sporadic lymphangioleiomyomatosis in a man with somatic mosaicism of TSC2 mutations, a case report.
- Authors
Wang, Y; Hu, D; Liu, Y; Yang, L; Huang, J; Zhou, J; Guo, L; Fan, X; Huang, X; Peng, M; Cheng, C; Zhang, W; Feng, R; Tian, X; Yu, S; Xu, K -F
- Abstract
This article discusses a case report of a 32-year-old Chinese man with sporadic lymphangioleiomyomatosis (LAM), a rare neoplasm that primarily affects women. LAM in male patients is uncommon, and the mechanisms behind it are not well understood. The patient had a novel TSC2 mutation and somatic mosaic TSC2 mutations, which resulted in multi-system involvement including pulmonary LAM, kidney and liver angiomyolipomas, and sclerotic bone lesions. The study highlights the importance of gene sequencing in various tissues to establish a diagnosis in individuals who do not exhibit other symptoms of tuberous sclerosis complex (TSC).
- Subjects
MOSAICISM; TUBEROUS sclerosis; MONONUCLEAR leukocytes; GENETIC mutation; NUCLEOTIDE sequencing
- Publication
QJM: An International Journal of Medicine, 2024, Vol 117, Issue 1, p75
- ISSN
1460-2725
- Publication type
Article
- DOI
10.1093/qjmed/hcad235