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Am. J. Respir. Crit. Care Med., Volume 162, Number 2, August 2000, 749-752

Pulmonary Lymphangioleiomyomatosis in a Man

MARIE-CHRISTINE AUBRY, JEFFREY L. MYERS, JAY H. RYU, ELIZABETH PETRI HENSKE, HELEN LOGGINIDOU, SYED M. JALAL, and HENRY D. TAZELAAR

Department of Laboratory Medicine and Pathology, and Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, Minnesota; and Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, Pennsylvania

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.




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