Integrating next-generation sequencing to endoscopic retrograde cholangiopancreatography (ERCP)-obtained biliary specimens improves the detection and management of patients with malignant bile duct strictures.
Adolescent
Adult
Aged
Aged, 80 and over
Bile Duct Neoplasms
/ diagnosis
Biliary Tract Diseases
/ diagnosis
Biomarkers, Tumor
/ blood
CA-19-9 Antigen
/ blood
Cholangiopancreatography, Endoscopic Retrograde
/ methods
Constriction, Pathologic
/ diagnosis
Diagnosis, Differential
Female
High-Throughput Nucleotide Sequencing
/ methods
Humans
Liver Cirrhosis, Biliary
/ diagnosis
Male
Middle Aged
Prospective Studies
Sensitivity and Specificity
Specimen Handling
/ methods
Young Adult
ampulla
bile duct
cholangiocarcinoma
dysplasia
genomics
molecular
pancreas
pancreatic cancer
precision medicine
Journal
Gut
ISSN: 1468-3288
Titre abrégé: Gut
Pays: England
ID NLM: 2985108R
Informations de publication
Date de publication:
01 2020
01 2020
Historique:
received:
29
10
2018
revised:
25
03
2019
accepted:
27
03
2019
pubmed:
12
4
2019
medline:
18
12
2019
entrez:
12
4
2019
Statut:
ppublish
Résumé
Despite improvements in imaging, serum CA19-9 and pathological evaluation, differentiating between benign and malignant bile duct strictures remains a diagnostic conundrum. Recent developments in next-generation sequencing (NGS) have opened new opportunities for early detection and management of cancers but, to date, have not been rigorously applied to biliary specimens. We prospectively evaluated a 28-gene NGS panel (BiliSeq) using endoscopic retrograde cholangiopancreatography-obtained biliary specimens from patients with bile duct strictures. The diagnostic performance of serum CA19-9, pathological evaluation and BiliSeq was assessed on 252 patients (57 trainings and 195 validations) with 346 biliary specimens. The sensitivity and specificity of BiliSeq for malignant strictures was 73% and 100%, respectively. In comparison, an elevated serum CA19-9 and pathological evaluation had sensitivities of 76% and 48%, and specificities of 69% and 99%, respectively. The combination of BiliSeq and pathological evaluation increased the sensitivity to 83% and maintained a specificity of 99%. BiliSeq improved the sensitivity of pathological evaluation for malignancy from 35% to 77% for biliary brushings and from 52% to 83% for biliary biopsies. Among patients with primary sclerosing cholangitis (PSC), BiliSeq had an 83% sensitivity as compared with pathological evaluation with an 8% sensitivity. Therapeutically relevant genomic alterations were identified in 20 (8%) patients. Two patients with The combination of BiliSeq and pathological evaluation of biliary specimens increased the detection of malignant strictures, particularly in patients with PSC. Additionally, BiliSeq identified alterations that may stratify patients for specific anticancer therapies.
Identifiants
pubmed: 30971436
pii: gutjnl-2018-317817
doi: 10.1136/gutjnl-2018-317817
pmc: PMC6943248
doi:
Substances chimiques
Biomarkers, Tumor
0
CA-19-9 Antigen
0
Types de publication
Evaluation Study
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
52-61Commentaires et corrections
Type : CommentIn
Informations de copyright
© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: ADS has received an honorarium from Foundation Medicine, Inc.
Références
J Hepatobiliary Pancreat Surg. 2007;14(5):469-75
pubmed: 17909715
Am J Gastroenterol. 2004 Jun;99(6):1069-73
pubmed: 15180727
Gastrointest Endosc. 2014 Jul;80(1):97-104
pubmed: 24559784
Hepatology. 2006 Sep;44(3):746-64
pubmed: 16941705
J Clin Oncol. 2015 Jan 20;33(3):244-50
pubmed: 25366685
Surgeon. 2003 Feb;1(1):32-8
pubmed: 15568422
Gastrointest Endosc. 2016 Oct;84(4):557-71
pubmed: 27156656
Clin Cancer Res. 2018 Sep 1;24(17):4154-4161
pubmed: 29848569
J Clin Pathol. 2001 Jun;54(6):449-55
pubmed: 11376018
Gastroenterology. 2019 Jan;156(1):108-118.e4
pubmed: 30240661
Hepatology. 2017 Oct;66(4):1125-1143
pubmed: 28555885
Nat Genet. 2015 Sep;47(9):1003-10
pubmed: 26258846
Hepatology. 2010 Feb;51(2):660-78
pubmed: 20101749
Gastroenterology. 2015 Dec;149(7):1813-1824.e1
pubmed: 26327129
J Clin Oncol. 2018 Jan 20;36(3):276-282
pubmed: 29182496
Am J Clin Pathol. 2014 Jun;141(6):884-91
pubmed: 24838334
Cancer Discov. 2016 Jul;6(7):727-39
pubmed: 27231123
J Mol Diagn. 2010 Nov;12(6):780-6
pubmed: 20864634
Gastrointest Endosc. 2015 Oct;82(4):608-14.e2
pubmed: 26071061
Hepatology. 2001 Jun;33(6):1353-7
pubmed: 11391522
Gastroenterol Rep (Oxf). 2015 Feb;3(1):22-31
pubmed: 25355800
Clin Cancer Res. 2017 Oct 15;23(20):6094-6100
pubmed: 28754816
Neuro Oncol. 2016 Mar;18(3):379-87
pubmed: 26681766
J Natl Compr Canc Netw. 2017 May;15(5):555-562
pubmed: 28476735
Gut. 2018 Dec;67(12):2131-2141
pubmed: 28970292
J Mol Diagn. 2016 Jan;18(1):124-30
pubmed: 26596524
Ann Surg. 1999 Nov;230(5):663-71
pubmed: 10561090
Clin Chim Acta. 2016 Jul 1;458:138-43
pubmed: 27181912
Nat Genet. 2013 Dec;45(12):1470-1473
pubmed: 24185509
Dig Dis Sci. 2018 Mar;63(3):636-644
pubmed: 29353443
Nature. 2016 Mar 3;531(7592):47-52
pubmed: 26909576
NIH Consens State Sci Statements. 2002 Jan 14-16;19(1):1-26
pubmed: 14768653
Gastrointest Endosc. 2003 Aug;58(2):176-82
pubmed: 12872082
J Clin Endocrinol Metab. 2013 Nov;98(11):E1852-60
pubmed: 23979959
Cancer. 2018 Apr 15;124(8):1682-1690
pubmed: 29345728
Cancer Metastasis Rev. 2017 Mar;36(1):141-157
pubmed: 27981460
Cancer. 2013 May 1;119(9):1669-74
pubmed: 23335286
Cancer Cell. 2017 Jul 10;32(1):57-70.e3
pubmed: 28648284
Gastrointest Endosc. 2011 Oct;74(4):805-14
pubmed: 21762903
Science. 2013 May 3;340(6132):626-30
pubmed: 23558169
Cancer Discov. 2017 Oct;7(10):1116-1135
pubmed: 28667006
J Hepatol. 2009 Jan;50(1):158-64
pubmed: 19012991
Am J Gastroenterol. 2004 Mar;99(3):523-6
pubmed: 15056096
Cancer Discov. 2016 Mar;6(3):300-15
pubmed: 26732095
Clin Transl Gastroenterol. 2018 Apr 30;9(4):151
pubmed: 29712892
Am J Gastroenterol. 2004 Sep;99(9):1675-81
pubmed: 15330900
J Mol Diagn. 2017 Jan;19(1):4-23
pubmed: 27993330
Ann Surg. 1999 Dec;230(6):808-18; discussion 819
pubmed: 10615936
Clin Gastroenterol Hepatol. 2017 Jun;15(6):913-919.e1
pubmed: 28017843
Hepatology. 2013 Dec;58(6):2045-55
pubmed: 23775876
Hepatology. 2014 Sep;60(3):896-907
pubmed: 24497320
Gastrointest Endosc. 2001 Nov;54(5):587-94
pubmed: 11677474
J Hematol Oncol. 2015 May 29;8:58
pubmed: 26022204
Hepatology. 2018 Sep;68(3):949-963
pubmed: 29278425
Hepatology. 1993 Dec;18(6):1399-403
pubmed: 8244264
Cancer. 2016 Dec 15;122(24):3838-3847
pubmed: 27622582
Am Surg. 2012 Dec;78(12):1388-91
pubmed: 23265129
Cell Rep. 2017 Mar 14;18(11):2780-2794
pubmed: 28297679
J Hepatobiliary Pancreat Surg. 2000;7(2):142-7
pubmed: 10982606
Am J Gastroenterol. 1991 May;86(5):577-80
pubmed: 2028947
Gastroenterology. 2019 Jun;156(8):2242-2253.e4
pubmed: 30836094
Am J Gastroenterol. 2008 May;103(5):1263-73
pubmed: 18477350
Med Mol Morphol. 2016 Dec;49(4):189-202
pubmed: 27350291
J Mol Diagn. 2015 Jan;17(1):53-63
pubmed: 25468433
Gastroenterology. 2006 Oct;131(4):1064-72
pubmed: 17030177