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Published ahead of print on October 31, 2002, doi:10.1164/rccm.200208-969OC

Am. J. Respir. Crit. Care Med., Volume 167, Number 7, April 2003, 976-982

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Submitted on September 10, 2002
Accepted on October 28, 2002

Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism

Magdalena Karbowniczek1, Aristotelis Astrindis1, Binaifer R Balsara1, Joseph R Testa1, James H Lium2, Thomas V Colby3, Frank X McCormack4, and Elizabeth P Henske1*

1 Medical Oncology, Fox Chase Cancer Center, Philadelphia, PA, USA, 2 Pathology, Salem Hospital, Salem, OR, USA, 3 Pathology, Mayo Clinic, Scottsdale, AZ, USA, 4 Medicine, University of Cincinnati, Cincinnati, OH, USA

* To whom correspondence should be addressed. E-mail: EP_Henske{at}fccc.edu.

Lymphangiomyomatosis (LAM) is characterized by the proliferation of abnormal smooth muscle cells and cystic degeneration of the lung. LAM affects almost exclusively young women. Although lung transplantation provides effective therapy for end-stage LAM, there are reports of LAM recurrence after lung transplantation. Whether these recurrent LAM cells arise from the patient or lung transplant donor is an area of controversy. We used microsatellite marker fingerprinting and TSC2 gene mutational analysis to study a patient with recurrent LAM after single-lung transplantation. The DNA microsatellite marker pattern indicated the presence of patient-derived LAM cells in the allograft. A somatic one base pair deletion in exon 18 of the TSC2 gene was identified in pulmonary and lymph node LAM cells prior to transplantation. The same mutation was in the recurrent LAM, demonstrating that the recurrent LAM was derived from the patient. Fluorescence in-situ hybridization revealed that cells immunoreactive with HMB-45 did not contain a Y-chromosome. These data indicate that histologically benign LAM cells can migrate or metastasize in vivo to the transplanted lung. In addition, the patient had no evidence of a renal angiomyolipoma at autopsy, and therefore demonstrates for the first time that somatic TSC2 mutations cause LAM in patients without angiomyolipomas.
Key words: tuberous sclerosis, hamartin, tuberin, TSC1, TSC2




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