The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.
Recurrent Lymphangiomyomatosis after Transplantation: Genetic Analyses Reveal a Metastatic Mechanism
Abstract
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 the 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 before 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 the monoclonal antibody 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 demonstrated for the first time that somatic TSC2 mutations cause LAM in patients without angiomyolipomas.
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Self-citationSirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis
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Self-citationEfficacy and safety of sirolimus in lymphangioleiomyomatosis
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Metadata
- Authors
- Karbowniczek, M., Astrinidis, A., Balsara, B. R., Testa, J. R., Lium, J. H., Colby, T. V., McCormack, F. X., & Henske, E. P.
- Venue
- American Journal of Respiratory and Critical Care Medicine
- Publisher
- Oxford University Press (OUP)
- Published
- 2003-04-01
- Volume
- 167
- Issue
- 7
- Pages
- 976-982
- ISSN
- 1073-449X (ISSN-L)
- 1535-4970
- OpenAlex
- W2040662861
- Cited by
- 254
- References
- 31
- FWCI
- 7.42
- Type
- journal article
- Language
- en
- Open access
- closed
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- Karbowniczek, M., Astrinidis, A., Balsara, B. R., Testa, J. R., Lium, J. H., Colby, T. V., McCormack, F. X., & Henske, E. P. (2003). Recurrent Lymphangiomyomatosis after Transplantation: Genetic Analyses Reveal a Metastatic Mechanism. American Journal of Respiratory and Critical Care Medicine. https://doi.org/10.1164/rccm.200208-969oc
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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