Aims: Germline mutation of NF2 gene is a feature of neurofibromatosis type 2 familial cancer syndrome. Also, somatic point mutations of NF2 mutation have been reported in tumours originated from nerve structures. A recent study revealed that NF2 gene was mutated in renal cell carcinoma (RCC) as well, suggesting a possibility that NF2 gene might be somatically mutated in other human cancers. The aim of this study was to explore whether NF2 genes are somatically mutated, and contribute to tumorigenesis in common human cancers.
Methods: For this, we analysed the entire coding region of NF2 gene in 45 colorectal carcinomas, 45 gastric, 45 breast, 45 lung, 45 hepatocellular (HCC), 45 prostate carcinomas, and 45 acute leukaemias by a single-strand conformation polymorphism assay.
Results: Overall, we found NF2 mutations in one HCC (1/45; 2.2%) (hepatitis B virus-related HCC), one lung carcinoma (1/45; 2.2%) (squamous cell carcinoma), and one acute leukaemia (1/45; 2.2%) (acute myelogenous leukaemia minimally differentiated). All of the mutations were missense mutations that would substitute amino acids in the NF2 protein (p.A238 V, p.A451T and p.R467K).
Conclusion: Our data indicate that somatic mutation of NF2 gene is not prevalent in common human cancers, and its mutation somatically occurs in a minor fraction of HCC, lung cancer and acute leukaemia. These data suggest that somatic mutation of NF2 tumour suppressor gene may not play a central role in development of common cancers.