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Shallow whole-genome sequencing predicts future cancer risk of LGD in UC

Conference
ECCO 2018

The burden of chromosomal copy number alterations (CNAs) in precursor LGD relative to that in HGD/CRC has not yet been defined. Therefore, the correlation between LGD CNA burden and future CRC risk is unknown.

Researchers used shallow whole-genome sequencing to investigate these matters [3]. Shallow whole-genome sequencing is a novel, cost-effective technique for high-resolution CNA assessment in formalin-fixed, paraffin-embedded tissue.

A total of 19 UC proctocolectomy specimens with HGD/CRC were identified and 77 neoplastic regions (36 LGD, 34 HGD, and 7 CRC) were analysed. Subsequently, analysis was performed in 13 ‘progressor’ patients, with 27 LGD lesions, and 22 ‘non-progressor’ patients, with 26 LGD lesions. Progressors later developed HGD/CRC (after a median of 427 days) while non-progressors remained HGD/CRC-free for over five years.

The two patient groups were matched for age, gender, disease duration, and LGD location. The result...



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