Case reportMultiple Lung Adenocarcinomas Associated With Von Hippel-Lindau Disease
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)
- et al.
Epidermal growth factor receptor mutations in multicentric lung adenocarcinomas and atypical adenomatous hyperplasias
J Thorac Oncol
(2008) - et al.
Absence of mutations in the VHL gene but frequent loss of heterozygosity at 3p25-26 in non-small cell lung carcinomas
Lung Cancer
(2003) - et al.
Von Hippel-Lindau disease: molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment
Jpn J Clin Oncol
(2006)
Cited by (5)
Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease
2020, Cancer GeneticsCitation Excerpt :These findings point to the heterogeneity of VHL disease manifestations in patients with identical or distinct mutations. In VHL disease, lesions and cysts in lungs have been rarely described in patients with mutations in the VHL gene [39,40]. Here, we show two patients (siblings) with the same recurrent mutation, p.Phe76del, exhibiting multiple nodules in the left and right lobes of the lungs.
Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients
2022, Journal of Medical GeneticsPulmonary mucosa-associated lymphoma in a patient with von Hippel-Lindau disease
2015, Journal of Surgical Case Reports