STAT1 gene mutation is not implicated in upper aerodigestive cancers

Polat Dura, Rene H. M. te Morsche, Martin Lacko, Mihai G. Netea, Jos W. M. van der Meer, Joost P. H. Drenth, Wilbert H. M. Peters

Department of Otorhinolaryngology, Maastricht University Medical Center, Maastricht, the Netherlands.
Departments of Gastroenterology and Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

DOI: 10.4236/ojgas.2012.22014                

Abstract

Autosomal Dominant Chronic Mucocutaneous Candidiasis (AD-CMC) is characterized by defective T cell immunity, leading to fungal infections limited to mucosal surfaces. Recently it was discovered that mutations in the coiled-coil (CC) domain of STAT1 are the cause of AD-CMC. STAT1 deficiency has been implicated in experimental models of oesophageal cancer (EC) and head and neck carcinoma (HNC). Both carcinoma types are prevalent among CMC patients. Consequently, we postulated that the same mutation in the STAT1 gene triggering AD-CMC, could also be involved in oesophageal- or head and neck carcinogenesis. However we failed to identify the c.820C>T mutation in the STAT1 CC domain in 3 cohorts of Dutch Caucasian origin: being 351 EC patients, 325 HNC patients and 309 controls. Although it seems valuable to investigate the relationship between AD-CMC and upper aerodigestive neo- plasms, the c.820C>T mutation in the STAT1 gene does not seem implicated in EC and HNC aetiology.

Keywords

STAT1; Signal Transducers and Activators of Transcription; Chronic Mucocutaneous Candidiasis; Genetic Mutation; Esophageal Carcinoma; Head and Neck Carcinoma

Conflicts of Interest

The authors declare no conflicts of interest.

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