PTC-SA

Program Description

This project aims to generate comprehensive catalogues of somatic mutations and expression of genes in 500 papillary thyroid cancers under the ICGC ARGO model by whole exome and transcriptome sequencing.  This comprehensive cataloguing of the genetic alterations will yield new insights into the process of thyroid carcinogenesis. One of the primary goals of this project is to ensure high quality by defining the catalogue for each tumour type or subtype to include the full range of somatic mutations including single-nucleotide variants, insertions, deletions, copy number changes, differentially expressed genes, and to have the following features:

• Concordance of somatic variant identification between whole exome and transcriptome sequencing;

• High coverage data including high quality specimens, using common quality standards for pathology;

• To distinguish somatic aberrations, control data generated from matched non-tumour tissue will be utilized.

Papillary thyroid carcinoma is the second most common cancer among women in Saudi Arabia and it represents 11.5% of female malignant neoplasms in Saudi Arabia with a male:female ratio of 0.3:1. The high prevalence of familial papillary thyroid carcinoma might be due to the high consanguinity and reaches up to 60% in Saudi population.

Program Goals and Expected Outcomes

The primary goal of this project is to generate a comprehensive catalogue of genomic abnormalities in Papillary Thyroid Carcinomas using next generation sequencing technology, which could be of prognostic and therapeutic importance to the patients. The study will link genomic and transcriptomic data, to clinical outcome of the PTC patients including survival, response to therapy, toxicity etc. The generated data will be useful for the clinical and industry use to develop advanced therapeutic markers based on patient’s genetic profile and provide the most effective treatments to patients. IN the longer term the data produced will also help to uncover prognostic markers for early detection and develop preventative strategies.

What gaps in existing knowledge will be addressed by the study?

Although papillary thyroid cancer has a generally favourable prognosis, some cases are associated with adverse prognostic factors such as tall cell variant, extra-thyroidal extension and distant metastasis. Comprehensive genomic analysis could help address the molecular basis for such cases. There are around 25% of patients with unknown genetic markers driving the disease. This study will provide comprehensive knowledge to discover the novel markers responsible for papillary thyroid cancers including the cases with adverse prognostic outcome. Further, comprehensive landscaping study of whole transcriptome has not been elucidated so far in this disease. This is particularly useful to discover structural changes which are common and important in thyroid cancer.

Program Team

Funding Organisations

Ministry of Finance, Kingdom of Saudi Arabia

Riyadh, Saudi Arabia