Pulmonary lymphangioleiomyomatosis in a man

Am J Respir Crit Care Med. 2000 Aug;162(2 Pt 1):749-52. doi: 10.1164/ajrccm.162.2.9911006.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Angiofibroma / complications
  • Angiomyolipoma / complications
  • Facial Neoplasms / complications
  • Genes, Tumor Suppressor
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization
  • Kidney Neoplasms / complications
  • Loss of Heterozygosity
  • Lung Neoplasms / genetics*
  • Lung Neoplasms / pathology
  • Lymphangiomyoma / genetics*
  • Lymphangiomyoma / pathology
  • Male
  • Mutation
  • Polymerase Chain Reaction
  • Repressor Proteins / genetics
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins


  • Repressor Proteins
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins