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.

This article has been cited by other articles:

				D A Muzykewicz, A Sharma, V Muse, A L Numis, J Rajagopal, and E A Thiele TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex J. Med. Genet., July 1, 2009; 46(7): 465 - 468. [Abstract] [Full Text] [PDF]

				J. P. Lynch III Rare Interstitial Lung Diseases: Pulmonary Langerhans Cell Histiocytosis, Lymphangioleiomyomatosis, and Cryptogenic Organizing Pneumonia ACCP Pulmonary Med Brd Rev, January 1, 2009; 25(0): 585 - 618. [Full Text] [PDF]

				F. X. McCormack Lymphangioleiomyomatosis*: A Clinical Update Chest, February 1, 2008; 133(2): 507 - 516. [Abstract] [Full Text] [PDF]

				G. P Cosgrove, S. K Frankel, and K. K Brown Challenges in pulmonary fibrosis {middle dot} 3: Cystic lung disease Thorax, September 1, 2007; 62(9): 820 - 829. [Abstract] [Full Text] [PDF]

				F. X. McCormack and J. Moss S-LAM in a Man? Am. J. Respir. Crit. Care Med., July 1, 2007; 176(1): 3 - 5. [Full Text] [PDF]

				M. Schiavina, V. Di Scioscio, P. Contini, A. Cavazza, A. Fabiani, M. Barberis, A. Bini, A. Altimari, R. M. T. Cooke, W. F. Grigioni, et al. Pulmonary Lymphangioleiomyomatosis in a Karyotypically Normal Man without Tuberous Sclerosis Complex Am. J. Respir. Crit. Care Med., July 1, 2007; 176(1): 96 - 98. [Abstract] [Full Text] [PDF]

				S. R. Johnson Lymphangioleiomyomatosis. Eur. Respir. J., May 1, 2006; 27(5): 1056 - 1065. [Abstract] [Full Text] [PDF]

				J. H. Ryu, J. Moss, G. J. Beck, J.-C. Lee, K. K. Brown, J. T. Chapman, G. A. Finlay, E. J. Olson, S. J. Ruoss, J. R. Maurer, et al. The NHLBI Lymphangioleiomyomatosis Registry: Characteristics of 230 Patients at Enrollment Am. J. Respir. Crit. Care Med., January 1, 2006; 173(1): 105 - 111. [Abstract] [Full Text] [PDF]

				G. F. Abbott, M. L. Rosado-de-Christenson, A. A. Frazier, T. J. Franks, R. D. Pugatch, and J. R. Galvin From the Archives of the AFIP: Lymphangioleiomyomatosis: Radiologic-Pathologic Correlation RadioGraphics, May 1, 2005; 25(3): 803 - 828. [Abstract] [Full Text] [PDF]

				D. Neal Franz Non-Neurologic Manifestations of Tuberous Sclerosis Complex J Child Neurol, September 1, 2004; 19(9): 690 - 698. [Abstract] [PDF]

				S. E. Evans, T. V. Colby, J. H. Ryu, and A. H. Limper Transforming Growth Factor-{beta}1 and Extracellular Matrix-Associated Fibronectin Expression in Pulmonary Lymphangioleiomyomatosis Chest, March 1, 2004; 125(3): 1063 - 1070. [Abstract] [Full Text] [PDF]

				J. H. Ryu, C. H. Doerr, S. D. Fisher, E. J. Olson, and S. A. Sahn Chylothorax in Lymphangioleiomyomatosis Chest, February 1, 2003; 123(2): 623 - 627. [Abstract] [Full Text] [PDF]

				G. Pacheco-Rodriguez, A. S. Kristof, L. A. Stevens, Y. Zhang, D. Crooks, and J. Moss Genetics and Gene Expression in Lymphangioleiomyomatosis : Giles F. Filley Lecture Chest, March 1, 2002; 121 (2009): 56S - 61S. [Abstract] [Full Text] [PDF]

				M. J. TOBIN Tuberculosis, Lung Infections, and Interstitial Lung Disease in AJRCCM 2000 Am. J. Respir. Crit. Care Med., November 15, 2001; 164(10): 1774 - 1788. [Full Text] [PDF]

				D. N. FRANZ, A. BRODY, C. MEYER, J. LEONARD, G. CHUCK, S. DABORA, G. SETHURAMAN, T. V. COLBY, D. J. KWIATKOWSKI, and F. X. MCCORMACK Mutational and Radiographic Analysis of Pulmonary Disease Consistent with Lymphangioleiomyomatosis and Micronodular Pneumocyte Hyperplasia in Women with Tuberous Sclerosis Am. J. Respir. Crit. Care Med., August 15, 2001; 164(4): 661 - 668. [Abstract] [Full Text] [PDF]