Genomic landscape of poorly differentiated thyroid carcinoma

Poorly differentiated thyroid carcinoma (PDTC) is a rare and aggressive subtype of thyroid cancer with limited molecular characterization. This study aims to define the somatic mutational landscape of PDTC using whole-genome sequencing. Paired tumour and matched normal blood samples were collected from six patients undergoing surgery. The overarching goal is to identify recurrent mutations, structural variants, and other genomic alterations associated with tumour aggressiveness and poor clinical outcomes.

Type: Whole Genome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000001628	This dataset contains raw sequencing reads in FASTQ format from 12 samples, comprising paired tumour and matched blood DNA from six patients diagnosed with poorly differentiated thyroid carcinoma (PDTC). Genomic DNA was extracted from fresh-frozen tumour tissue and peripheral blood using standard protocols. Whole-genome sequencing was performed on the Illumina HiSeq X Ten platform, generating paired-end reads at an average depth of approximately 20X. These data support investigations into the somatic mutational landscape and genomic alterations associated with PDTC.	Illumina HiSeq X	12

Publications	Citations
AURKB and PI3K/AKT/mTOR pathways converge to regulate <i>TERT</i> expression. Lim G, Bastian A, Fung S, Mollah F, Nguyen MH, Sey AA, Cheade M, Harvie R, Singh NR, Kurdyukov S, Dickson KA, Choi EHY, Seery AC, Gild ML, Marsh DJ, Pickett HA, Reddel RR, Bullock M, Clifton-Bligh RJ. iScience 28: 2025 113194	0