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Updated: May 27, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Mutational analysis of tumour suppressor gene NF2 in common solid cancers and acute leukaemias
Nam Jin Yoo1, Sang Wook Park, Sug Hyung Lee
1Departments of Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
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.
Insights
Somatic NF2 gene mutations are rare in common cancers. This study found NF2 mutations in a small percentage of hepatocellular carcinoma, lung cancer, and acute leukaemia, suggesting it’s not a primary driver in most cancers.
Area of Science:
- Oncology
- Cancer Genetics
Background:
- The NF2 gene is linked to neurofibromatosis type 2 and has been found mutated in nerve-related tumors and renal cell carcinoma.
- Previous findings suggest potential somatic mutations of the NF2 gene in various human cancers.
Purpose of the Study:
- To investigate the frequency of somatic NF2 gene mutations in common human cancers.
- To determine if NF2 gene mutations contribute to tumorigenesis in these cancers.
Main Methods:
- Analysis of the entire coding region of the NF2 gene.
- Utilized single-strand conformation polymorphism assay.
- Examined 45 samples each of colorectal, gastric, breast, lung, hepatocellular carcinoma (HCC), prostate carcinomas, and acute leukaemias.
Main Results:
- NF2 mutations were identified in one HCC (2.2%), one lung carcinoma (2.2%), and one acute leukaemia (2.2%).
- All identified mutations were missense, altering the NF2 protein sequence (p.A238V, p.A451T, and p.R467K).
Conclusions:
- Somatic NF2 gene mutation is infrequent in common human cancers.
- The NF2 tumor suppressor gene's somatic mutation appears to play a limited role in the development of most common cancers.
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