Journal article

MON-LB48 The Genomic Landscape of Sporadic Thyrotrophinomas

Angeline shen, Paul Wang, Sunita MC De Sousa, David J Torpy, Hamish Scott, James King, Peter Grahame Colman, Christopher James Yates

Journal of the Endocrine Society | The Endocrine Society | Published : 2020

Abstract

Abstract Background: Thyrotrophinoma (TSHoma) is rare and knowledge on the genomic landscape of this tumour type is very limited. Aim: To perform whole-exome sequencing (WES) in a population of TSHomas to identify recurrent somatic genetic events Method: WES was performed on paired tumour and germline DNA of 7 patients with TSHomas. Three tissue samples were formalin-fixed paraffin-embedded and 4 fresh frozen tumour samples. Fresh blood samples were also collected from each patient. The average of mean depth of coverage amongst all samples was 129X, and 97% of target bases were covered ≥20X. Results:Four (57%) of the seven patients ..

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