Thymoma and thymic carcinomas are a rare and poorly understood group of malignancies. Despite the growing number of biomarkers that are used for diagnosing and treating carcinomas in general, cancers of the thymus are still diagnosed, stratified and treated by a costly combination of histology, surgery and radiological procedures. The lack of qualified biomarkers associated with thymomas and thymic carcinomas has also hampered the development of targeted therapies.
Researchers at NCI discovered a missense mutation in the general transcription factor Iii (GTF2I) at high frequency in non-aggressive forms of thymoma, as well as a series of common oncogene mutations in aggressive thymic carcinomas. The technology provides a method for determining the prognosis of thymic cancer and informing clinical decisions regarding treatment regiments by a simple PCR based test.