Case report
Multiple Lung Adenocarcinomas Associated With Von Hippel-Lindau Disease

https://doi.org/10.1016/j.athoracsur.2013.11.080Get rights and content

Lung adenocarcinoma has never before been reported to be associated with von Hippel-Lindau (VHL) disease. Here, we report a case of VHL disease in a patient who had metachronous multiple lung adenocarcinomas. The patient is a 64-year-old-woman with VHL disease. She underwent surgical resection of one adenocarcinoma and one atypical adenomatous hyperplasia. A second lung adenocarcinoma developed metachronously. A point mutation in the VHL gene was confirmed in DNA from a blood sample, and loss of heterozygosity at the VHL locus was detected in the lung adenocarcinoma. The VHL dysfunction may have a role in the development of multiple lung adenocarcinomas.

Section snippets

Comment

In this study, we have documented the development of multiple lung ADs and AAH in a patient with VHL disease. However, the causal association between the development of lung ADs and abnormalities in the VHL gene is unclear. The primary cause of the disease is inactivation of the VHL gene, and subsequent loss of a protein complex (the VBC complex) containing the VHL tumor suppressor and Elongins B and C results in the dysfunction of the ubiquitination of the hypoxia-inducible factors and other

References (7)

There are more references available in the full text version of this article.

Cited by (5)

View full text