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Possible association between SP-C mutations and lung cancer: Two case reports and review of literature
Fares Darawshy1, Ayman Abu Rmeileh1, Rottem Kuint1
1Institute of Pulmonary Medicine, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Israel.
Abstract:
Surfactant protein C (SP-C) is one of four surfactant proteins produced by type II pneumocytes. Mutations in surfactant protein A are strongly associated with development of lung cancer. Mutations in the SP-C gene are rare and are associated with interstitial lung disease in the pediatric age group. We describe two patients with SP-C mutations who developed lung cancer. Both patients had concurrent interstitial lung disease, although the clinical phenotype was variable. In both cases, mutations were in translated region of the SP-C gene; one in the BRICHOS domain and the other in the transmembrane domain. Our paper suggests that patients with SP-C mutations can be at increased risk for the development of lung cancer, and it's reasonable to follow them routinely.
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