Possible association between SP-C mutations and lung cancer: Two case reports and review of literature

Fares Darawshy; Ayman Abu Rmeileh; Rottem Kuint; Neville Berkman

doi:10.1016/j.ctarc.2021.100461

Possible association between SP-C mutations and lung cancer: Two case reports and review of literature

Cancer Treat Res Commun. 2021:29:100461. doi: 10.1016/j.ctarc.2021.100461. Epub 2021 Sep 22.

Authors

Fares Darawshy¹, Ayman Abu Rmeileh², Rottem Kuint², Neville Berkman²

Affiliations

¹ Institute of Pulmonary Medicine, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Israel. Electronic address: fares@hadassah.org.il.
² Institute of Pulmonary Medicine, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Israel.

PMID: 34600418
DOI: 10.1016/j.ctarc.2021.100461

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.

Keywords: Adenocarcinoma; Lung cancer; SP-C; Surfactant.

Publication types

Case Reports
Review

MeSH terms

Adult
Female
Humans
Lung Neoplasms / genetics*
Lung Neoplasms / pathology
Male
Middle Aged
Mutation
Pulmonary Surfactant-Associated Protein C / metabolism*

Substances

Pulmonary Surfactant-Associated Protein C
SFTPC protein, human