Format

Send to

Choose Destination
Am J Respir Crit Care Med. 2000 Aug;162(2 Pt 1):749-52.

Pulmonary lymphangioleiomyomatosis in a man.

Author information

1
Department of Laboratory Medicine and Pathology, and Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, Minnesota, USA.

Abstract

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.

PMID:
10934115
DOI:
10.1164/ajrccm.162.2.9911006
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Atypon
Loading ...
Support Center