Pulmonary lymphangioleiomyomatosis in a karyotypically normal man without tuberous sclerosis complex.
BACKGROUND
The three previously reported cases of conclusively documented pulmonary lymphangioleiomyomatosis (LAM) in men were associated with definite or probable tuberous sclerosis complex (TSC).


OBJECTIVE
To describe an unequivocal case of pulmonary LAM occurring in a man with no clinical or genotypic evidence of TSC.


METHODS
At high-resolution computed tomography, a 37-year-old phenotypically and karyotypically normal man with left pneumothorax and massive pulmonary collapse had widespread thin-walled cysts throughout both lungs. Histological diagnosis of LAM was performed on biopsy material, and immunohistochemically confirmed with the HMB-45 monoclonal antibody.


RESULTS
Remarkably, the HMB-45-positive cells lining the cysts also showed strong reactivity for estrogen and progesterone receptor proteins. TSC was clinically excluded, and TSC1 and TSC2 germline mutations were not detected at DNA analysis.


CONCLUSIONS
This article indicates that occurrence of LAM may be possible in a chromosomally normal man unaffected by TSC. On diagnostic grounds, the possibility of LAM should be borne in mind when diffuse cystic lung disease occurs in a man, even in the absence of signs of TSC.
Schiavina
Mario
M
Unit of Lung Physiopathology, Azienda Ospedaliera S. Orsola-Malpighi and University of Bologna, Bologna, Italy.
Di Scioscio
Valerio
V
Contini
Paola
P
Cavazza
Alberto
A
Fabiani
Andrea
A
Barberis
Marco
M
Bini
Alessandro
A
Altimari
Annalisa
A
Cooke
Robin M T
RM
Grigioni
Walter F
WF
D'Errico-Grigioni
Antonia
A
D000328:Adult; D000951:Antigens, Neoplasm; D006801:Humans; D007150:Immunohistochemistry; D019656:Loss of Heterozygosity; D018192:Lymphangioleiomyomatosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D008297:Male; D058950:Melanoma-Specific Antigens; D009363:Neoplasm Proteins / Q000032:analysis; D011030:Pneumothorax / Q000209:etiology; D012737:Sex Factors; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics
D000951:Antigens, Neoplasm; D058950:Melanoma-Specific Antigens; D009363:Neoplasm Proteins; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins