Ricerc@Sapienza

Identification of individuals at high-risk for cancer can help cancer prevention, early detection and can guide cancer treatment. Novel methods to identify patients with germline mutations could help conventional genetic cancer risk assessment. Germline mutation detection in the context of tumor genomic sequencing has been reported in single-institution and retrospective consortia setting, such as the Cancer Genome Atlas. These studies have demonstrated that somatic genotyping may be a potential resource.
There are no studies that have investigated germline cancer predisposition in thyroid fine needle aspiration (FNA) biopsy samples. However, somatic genotyping of thyroid FNA samples may be certainly a potential resource. Indeed, during the past several years, several molecular tests have been developed to reduce the diagnostic uncertainty of indeterminate thyroid fine-needle aspirations and they are now being used more increasingly.
Aim of this study was to describe incidental germline mutations identified through in-house FNA testing of thyroid nodule patients who underwent somatic genotyping in our institution.
Preliminary data were already obtained. FNA thyroid samples (N=123) from 117 patients with thyroid nodules were previously tested for mutations in thyroid cancer drivers using targeted next-generation sequencing (NGS). NGS data will be analyzed by bioinformatics analysis in order to select putative germline variants. Germline status of each variant will be finally confirmed by Sanger sequencing analysis on normal thyroid tissue from each thyroid nodule patient who underwent surgery. The proportion of pathogenic hereditary variants in the whole cohort will be assessed.