Multiregion whole-exome sequencing of intraductal papillary mucinous neoplasms reveals frequent somatic
molecular genetics
mutations
pancreatic cancer
pancreatic pathology
pancreatic tumours
Journal
Gut
ISSN: 1468-3288
Titre abrégé: Gut
Pays: England
ID NLM: 2985108R
Informations de publication
Date de publication:
05 2021
05 2021
Historique:
received:
25
03
2020
revised:
06
08
2020
accepted:
09
08
2020
pubmed:
9
10
2020
medline:
15
12
2021
entrez:
8
10
2020
Statut:
ppublish
Résumé
Intraductal papillary mucinous neoplasms (IPMNs) are non-invasive precursor lesions that can progress to invasive pancreatic cancer and are classified as low-grade or high-grade based on the morphology of the neoplastic epithelium. We aimed to compare genetic alterations in low-grade and high-grade regions of the same IPMN in order to identify molecular alterations underlying neoplastic progression. We performed multiregion whole exome sequencing on tissue samples from 17 IPMNs with both low-grade and high-grade dysplasia (76 IPMN regions, including 49 from low-grade dysplasia and 27 from high-grade dysplasia). We reconstructed the phylogeny for each case, and we assessed mutations in a novel driver gene in an independent cohort of 63 IPMN cyst fluid samples. Our multiregion whole exome sequencing identified Hotspot mutations in
Identifiants
pubmed: 33028669
pii: gutjnl-2020-321217
doi: 10.1136/gutjnl-2020-321217
pmc: PMC8262510
mid: NIHMS1674085
doi:
Substances chimiques
Biomarkers, Tumor
0
KLF4 protein, human
0
Kruppel-Like Factor 4
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
928-939Subventions
Organisme : NIGMS NIH HHS
ID : T32 GM136577
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA062924
Pays : United States
Organisme : NIDDK NIH HHS
ID : K08 DK107781
Pays : United States
Organisme : NIH HHS
ID : T32 OD011089
Pays : United States
Organisme : NCI NIH HHS
ID : R00 CA229991
Pays : United States
Informations de copyright
© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: LDW receives research support from Applied Materials. VBG is an employee of Personal Genome Diagnostics. The other authors declare no conflict of interest.
Références
AJR Am J Roentgenol. 2008 Sep;191(3):802-7
pubmed: 18716113
Nat Biotechnol. 2013 Mar;31(3):213-9
pubmed: 23396013
Science. 2013 Mar 1;339(6123):1077-80
pubmed: 23348505
PLoS One. 2013;8(2):e57329
pubmed: 23451207
Surgery. 2012 Sep;152(3 Suppl 1):S4-12
pubmed: 22770958
Am J Surg Pathol. 2015 Dec;39(12):1730-41
pubmed: 26559377
Cell. 2007 Nov 30;131(5):861-72
pubmed: 18035408
Nat Genet. 2013 Jan;45(1):18-24
pubmed: 23222956
Acta Neuropathol. 2013 Mar;125(3):351-8
pubmed: 23404370
Gastroenterology. 2019 Feb;156(3):647-661.e2
pubmed: 30342036
Nature. 2013 Jul 11;499(7457):214-218
pubmed: 23770567
Ann Surg Oncol. 2014 May;21(5):1539-44
pubmed: 24385209
Am J Pathol. 2000 Sep;157(3):755-61
pubmed: 10980115
Pancreatology. 2017 Sep - Oct;17(5):738-753
pubmed: 28735806
Sci Rep. 2011;1:161
pubmed: 22355676
Sci Transl Med. 2019 Jul 17;11(501):
pubmed: 31316009
Clin Chem. 2015 Jan;61(1):64-71
pubmed: 25421801
Science. 2018 Feb 23;359(6378):926-930
pubmed: 29348365
Clin Res Hepatol Gastroenterol. 2013 Jun;37(3):230-9
pubmed: 23415988
Pancreatology. 2017 Mar - Apr;17(2):267-272
pubmed: 28117220
Cell Syst. 2019 Jul 24;9(1):9-23.e8
pubmed: 31202631
Proc Natl Acad Sci U S A. 2011 Jun 7;108(23):9530-5
pubmed: 21586637
Gastroenterology. 2015 Apr;148(4):819-22; quize12-3
pubmed: 25805375
Nat Commun. 2015 Apr 09;6:6744
pubmed: 25855536
Gene. 2017 May 5;611:27-37
pubmed: 28237823
Nat Genet. 2017 Mar;49(3):358-366
pubmed: 28092682
Gastroenterology. 2010 Sep;139(3):929-41
pubmed: 20638938
Nature. 2016 Mar 3;531(7592):47-52
pubmed: 26909576
J Pathol. 2014 Jul;233(3):217-27
pubmed: 24604757
Gut. 2019 Apr;68(4):663-671
pubmed: 29420226
Nat Commun. 2017 Jan 31;8:14114
pubmed: 28139641
Nat Rev Gastroenterol Hepatol. 2019 Nov;16(11):676-689
pubmed: 31527862
J Pathol. 2019 Mar;247(3):347-356
pubmed: 30430578
EMBO Mol Med. 2017 Feb;9(2):181-197
pubmed: 28003334
Gastrointest Endosc. 2005 Mar;61(3):363-70
pubmed: 15758904
Gastroenterology. 2013 Nov;145(5):1098-1109.e1
pubmed: 23912084
Gastroenterology. 2019 Oct;157(4):1123-1137.e22
pubmed: 31175866
Nat Genet. 2013 Aug;45(8):942-6
pubmed: 23832012
J Pathol. 2017 May;242(1):16-23
pubmed: 28188630
Proc Natl Acad Sci U S A. 2011 Dec 27;108(52):21188-93
pubmed: 22158988
Gut. 2020 Apr;69(4):704-714
pubmed: 31154393
Cancer Cell. 2016 Mar 14;29(3):324-338
pubmed: 26977883
Sci Transl Med. 2011 Jul 20;3(92):92ra66
pubmed: 21775669
Cancer Cell. 2017 Aug 14;32(2):185-203.e13
pubmed: 28810144
Gut. 2017 Sep;66(9):1677-1687
pubmed: 27432539
Gastroenterology. 2015 Nov;149(6):1501-10
pubmed: 26253305
Gut. 2018 Sep;67(9):1652-1662
pubmed: 29500184
Clin Gastroenterol Hepatol. 2016 Apr;14(4):585-593.e3
pubmed: 26370569
Am J Pathol. 2011 Jan;178(1):361-72
pubmed: 21224073