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Pulmonary lymphangioleiomyomatosis in a man
M C Aubry1, J L Myers, J H Ryu
1Department of Laboratory Medicine and Pathology, and Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, Minnesota, USA.
American Journal of Respiratory and Critical Care Medicine
|August 10, 2000
Summary
Pulmonary lymphangioleiomyomatosis (LAM), typically seen in women, is described in a phenotypically normal man. Genetic analysis suggests a TSC2 mutation, linking LAM to tuberous sclerosis complex.
Area of Science:
- Pulmonology
- Genetics
- Oncology
Background:
- Pulmonary lymphangioleiomyomatosis (LAM) is a rare lung disease predominantly affecting women.
- It is characterized by the proliferation of abnormal smooth muscle-like cells in the lungs.
- Tuberous sclerosis complex (TSC) is a genetic disorder that can also affect the lungs.
Observation:
- This report details a rare case of pulmonary LAM in a phenotypically normal male patient.
- The patient presented with typical stigmata of tuberous sclerosis complex (TSC), including facial angiofibromas and renal angiomyolipoma.
- Lung biopsy confirmed pulmonary LAM with a normal XY genotype via fluorescence in situ hybridization (FISH).
Findings:
- Immunohistochemical analysis of LAM and renal angiomyolipoma tissues revealed positive hamartin (TSC1) and negative tuberin (TSC2) expression.
- Loss of heterozygosity (LOH) for TSC2 was confirmed in the renal angiomyolipoma.
- These molecular findings strongly indicate a mutation in the TSC2 gene as the underlying cause.
Implications:
- This case expands the known clinical spectrum of pulmonary LAM to include males.
- It reinforces the significant association between LAM and tuberous sclerosis complex, particularly TSC2 mutations.
- Further research into the genetic underpinnings of LAM in both sexes is warranted.