Genomic copy number predicts esophageal cancer years before transformation - PubMed

Genomic copy number predicts esophageal cancer years before transformation - PubMed

Genomic copy number predicts esophageal cancer years before transformation

Sarah Killcoyne 1 2, Eleanor Gregson 1, David C Wedge 3 4 5, Dan J Woodcock 3, Matthew D Eldridge 6, Rachel de la Rue 7, Ahmad Miremadi 7, Sujath Abbas 1, Adrienn Blasko 1, Cassandra Kosmidou 1, Wladyslaw Januszewicz 1, Aikaterini Varanou Jenkins 1, Moritz Gerstung 8 9, Rebecca C Fitzgerald 10

Affiliations 

• PMID: 32895572
 
• DOI: 10.1038/s41591-020-1033-y

Abstract

Recent studies show that aneuploidy and driver gene mutations precede cancer diagnosis by many years1-4. We assess whether these genomic signals can be used for early detection and pre-emptive cancer treatment using the neoplastic precursor lesion Barrett's esophagus as an exemplar5. Shallow whole-genome sequencing of 777 biopsies, sampled from 88 patients in Barrett's esophagus surveillance over a period of up to 15 years, shows that genomic signals can distinguish progressive from stable disease even 10 years before histopathological transformation. These findings are validated on two independent cohorts of 76 and 248 patients. These methods are low-cost and applicable to standard clinical biopsy samples. Compared with current management guidelines based on histopathology and clinical presentation, genomic classification enables earlier treatment for high-risk patients as well as reduction of unnecessary treatment and monitoring for patients who are unlikely to develop cancer.

Similar articles

• The diagnosis and management of Barrett's esophagus.

  DeMeester SR, DeMeester TR.Adv Surg. 1999;33:29-68.PMID: 10572561 Review.
• Temporal and spatial evolution of somatic chromosomal alterations: a case-cohort study of Barrett's esophagus.

  Li X, Galipeau PC, Paulson TG, Sanchez CA, Arnaudo J, Liu K, Sather CL, Kostadinov RL, Odze RD, Kuhner MK, Maley CC, Self SG, Vaughan TL, Blount PL, Reid BJ.Cancer Prev Res (Phila). 2014 Jan;7(1):114-27. doi: 10.1158/1940-6207.CAPR-13-0289. Epub 2013 Nov 19.PMID: 24253313 Free PMC article.
• A Tissue Systems Pathology Test Detects Abnormalities Associated with Prevalent High-Grade Dysplasia and Esophageal Cancer in Barrett's Esophagus.

  Critchley-Thorne RJ, Davison JM, Prichard JW, Reese LM, Zhang Y, Repa K, Li J, Diehl DL, Jhala NC, Ginsberg GG, DeMarshall M, Foxwell T, Jobe BA, Zaidi AH, Duits LC, Bergman JJ, Rustgi A, Falk GW.Cancer Epidemiol Biomarkers Prev. 2017 Feb;26(2):240-248. doi: 10.1158/1055-9965.EPI-16-0640. Epub 2016 Oct 11.PMID: 27729357 Free PMC article. Clinical Trial.
• Whole-genome sequencing provides new insights into the clonal architecture of Barrett's esophagus and esophageal adenocarcinoma.

  Ross-Innes CS, Becq J, Warren A, Cheetham RK, Northen H, O'Donovan M, Malhotra S, di Pietro M, Ivakhno S, He M, Weaver JMJ, Lynch AG, Kingsbury Z, Ross M, Humphray S, Bentley D, Fitzgerald RC.Nat Genet. 2015 Sep;47(9):1038-1046. doi: 10.1038/ng.3357. Epub 2015 Jul 20.PMID: 26192915 Free PMC article.
• Diagnosis and Management of Low-Grade Dysplasia in Barrett's Esophagus: Expert Review From the Clinical Practice Updates Committee of the American Gastroenterological Association.

  Wani S, Rubenstein JH, Vieth M, Bergman J.Gastroenterology. 2016 Nov;151(5):822-835. doi: 10.1053/j.gastro.2016.09.040. Epub 2016 Oct 1.PMID: 27702561 Review.