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Aubry MC , Myers JL , Ryu JH , Henske EP , Logginidou H , Jalal SM , Tazelaar HD
Pulmonary lymphangioleiomyomatosis in a man
American Journal of Respiratory and Critical Care Medicine. 2000 Aug;162(2) :749-752
PMID: ISI:000088829200066   
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Pulmonary lymphangioleiomyomatosis (LAM) is an uncommon disease reported to occur exclusively in women. We describe a phenotypically normal man with pulmonary LAM. Fluorescence in situ hybridization (FISH) studies performed on the lung biopsy confirmed a normal XY genotype. Our patient also had stigmata of tuberous sclerosis complex (TSC), including facial angiofibromas and renal angiomyolipoma. Immunohistochemical stains of both LAM and renal angiomyolipoma showed positive immunoreactivity for hamartin (TSC1) and loss of immunoreactivity for tuberin (TSC2). Loss of heterozygosity (LOH) for TSC2 was further demonstrated in the renal angiomyolipoma. Coupled with the results of immunostains, these findings are consistent with TSC2 mutation.
Times Cited: 5 English Article 345RP AMER J RESPIR CRIT CARE MED