Reports summarize tuberous sclerosis research from M. Schiavina and co-authors
2007 OCT 1 -- "Rationale The three previously reported cases of conclusively documented pulmonary lymphangioleiomyomatosis (LAM) in men were associated with definite or probable tuberous sclerosis complex (TSC). To describe an unequivocal case of pulmonary LAM occurring in a man with no clinical or genotypic evidence of TSC. 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," scientists writing in the American Journal of Respiratory and Critical Care Medicine report. "Histological diagnosis of LAM was performed on biopsy material, and immunohistochemically confirmed with the HMB-45 monoclonal antibody. 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. This article indicates that occurrence of LAM may be possible in a chromosomally normal man unaffected by TSC," wrote M. Schiavina and colleagues. The researchers concluded: "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 and colleagues published their study in American Journal of Respiratory and Critical Care Medicine (Pulmonary Lymphangioleiomyomatosis in a karyotypically normal man without tuberous sclerosis complex. American Journal of Respiratory and Critical Care Medicine, 2007;176(1):96-98). Additional information can be obtained by contacting M. Schiavina, Ist Oncology F Addarii, Viale Ercolani 4-2, I-40138 Bologna, Italy. The publisher of the American Journal of Respiratory and Critical Care Medicine can be contacted at: American Thoracic Society, 1740 Broadway, New York, NY 10019-4374, USA. Keywords: Italy, Bologna, Biotechnology, Genetics, Gynecology, Leiomyomatosis, Lymphangioleiomyomatosis, Medical Device, Monoclonal Antibody, Neurology, Tuberous Sclerosis. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2007, Pain & Central Nervous System Week via NewsRx.com.
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