Genomic copy number predicts esophageal cancer years before transformation

被引：90

作者：

Killcoyne, Sarah ^{[1
,2
]}

Gregson, Eleanor ^{[1
]}

Wedge, David C. ^{[3
,4
,5
]}

Woodcock, Dan J. ^{[3
]}

Eldridge, Matthew D. ^{[6
]}

de la Rue, Rachel ^{[7
]}

Miremadi, Ahmad ^{[7
]}

Abbas, Sujath ^{[1
]}

Blasko, Adrienn ^{[1
]}

Kosmidou, Cassandra ^{[1
]}

Januszewicz, Wladyslaw ^{[1
]}

Jenkins, Aikaterini Varanou ^{[1
]}

Gerstung, Moritz ^{[2
,8
]}

Fitzgerald, Rebecca C. ^{[1
]}

机构：

[1] Univ Cambridge, Med Res Council Canc Unit, Hutchison Med Res Council Res Ctr, Cambridge, England

[2] European Bioinformat Inst EMBL EBI, European Mol Biol Lab, Hinxton, England

[3] Univ Oxford, Big Data Inst, Oxford, England

[4] Oxford Natl Inst Hlth Res Biomed Res Ctr, Oxford, England

[5] Univ Manchester, Manchester Canc Res Ctr, Manchester, Lancs, England

[6] Canc Res UK Cambridge Inst, Bioinformat Core, Cambridge, England

[7] Cambridge Univ Hosp NHS Trust, Cambridge, England

[8] European Mol Biol Lab EMBL, Genome Biol Unit, Heidelberg, Germany

来源：

NATURE MEDICINE | 2020年 / 26卷 / 11期

基金：

英国医学研究理事会;

关键词：

BARRETTS-ESOPHAGUS; RADIOFREQUENCY ABLATION; PROGRESSION; P53; DYSPLASIA; ADENOCARCINOMA; METHYLATION; MANAGEMENT; DIAGNOSIS; RISK;

D O I：

10.1038/s41591-020-1033-y

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Longitudinal molecular profiling of copy number alterations in patients with Barrett's esophagus can identify patients at higher risk of developing esophageal cancer. Recent studies show that aneuploidy and driver gene mutations precede cancer diagnosis by many years(1-4). 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 exemplar(5). 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.

引用

页码：1726 / +

页数：24

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