Evolution and Impact of Subclonal Mutations in Papillary Thyroid Cancer.
evolution
exome sequencing
multi-tissue
papillary thyroid cancer
phylogeny
recurrence
subclonal mutations
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
07 11 2019
07 11 2019
Historique:
received:
10
07
2019
accepted:
27
09
2019
pubmed:
2
11
2019
medline:
1
4
2020
entrez:
1
11
2019
Statut:
ppublish
Résumé
Unlike many cancers, the pattern of tumor evolution in papillary thyroid cancer (PTC) and its potential role in relapse have not been elucidated. In this study, multi-region whole-exome sequencing (WES) was performed on early-stage PTC tumors (n = 257 tumor regions) from 79 individuals, including 17 who had developed relapse, to understand the temporal and spatial framework within which subclonal mutations catalyze tumor evolution and its potential clinical relevance. Paired primary-relapse tumor tissues were also available for a subset of individuals. The resulting catalog of variants was analyzed to explore evolutionary histories, define clonal and subclonal events, and assess the relationship between intra-tumor heterogeneity and relapse-free survival. The multi-region WES approach was key in correctly classifying subclonal mutations, 40% of which would have otherwise been erroneously considered clonal. We observed both linear and branching evolution patterns in our PTC cohort. A higher burden of subclonal mutations was significantly associated with increased risk of relapse. We conclude that relapse in PTC, while generally rare, does not follow a predictable evolutionary path and that subclonal mutation burden may serve as a prognostic factor. Larger studies utilizing multi-region sequencing in relapsed PTC case subjects with matching primary tissues are needed to confirm these observations.
Identifiants
pubmed: 31668701
pii: S0002-9297(19)30387-8
doi: 10.1016/j.ajhg.2019.09.026
pmc: PMC6849094
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
959-973Informations de copyright
Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Références
Cancer. 2003 Jun 1;97(11):2736-42
pubmed: 12767085
Cell. 2014 Oct 23;159(3):676-90
pubmed: 25417114
Nucleic Acids Res. 2016 Sep 19;44(16):e131
pubmed: 27270079
Thyroid. 2016 Nov;26(11):1541-1552
pubmed: 27571228
Trends Genet. 1993 Apr;9(4):138-41
pubmed: 8516849
Cancer Cell. 2015 Jan 12;27(1):15-26
pubmed: 25584892
Clin Cancer Res. 2018 Jul 1;24(13):3059-3068
pubmed: 29615459
Endocr Relat Cancer. 2013 Jan 21;20(1):13-22
pubmed: 23132792
Cell Physiol Biochem. 2018;50(1):169-178
pubmed: 30278442
Endocrine. 2019 Jan;63(1):94-100
pubmed: 30269267
Genome Biol. 2015 May 06;16:91
pubmed: 25944252
Nat Biotechnol. 2012 May;30(5):413-21
pubmed: 22544022
N Engl J Med. 2017 Jun 1;376(22):2109-2121
pubmed: 28445112
Nat Biotechnol. 2013 Mar;31(3):213-9
pubmed: 23396013
Bioinformatics. 2010 Mar 1;26(5):589-95
pubmed: 20080505
Int J Cancer. 2018 May 15;142(10):2028-2039
pubmed: 29266240
Cell. 2012 May 25;149(5):979-93
pubmed: 22608084
Nat Genet. 2016 Jul;48(7):768-76
pubmed: 27270107
Nat Commun. 2017 Feb 27;8:4565
pubmed: 28240289
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Nat Genet. 2016 Mar;48(3):238-244
pubmed: 26780609
Nat Commun. 2018 Jul 23;9(1):2884
pubmed: 30038269
Cancer Res. 2019 Jan 1;79(1):7-20
pubmed: 30389703
Science. 2011 Mar 25;331(6024):1553-8
pubmed: 21436442
N Engl J Med. 2012 Mar 8;366(10):883-892
pubmed: 22397650
J Pathol. 2007 Oct;213(2):190-9
pubmed: 17703498
Science. 2015 May 22;348(6237):880-6
pubmed: 25999502
Nat Commun. 2018 Feb 23;9(1):794
pubmed: 29476056
Cell. 2017 Aug 24;170(5):927-938.e20
pubmed: 28841418
Am J Hum Genet. 2016 Jun 2;98(6):1170-1180
pubmed: 27236916
Br J Cancer. 2015 Feb 3;112(3):514-22
pubmed: 25584484
Gland Surg. 2015 Feb;4(1):52-62
pubmed: 25713780
Cancer Cell. 2017 Mar 13;31(3):326-341
pubmed: 28292436
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
Nat Commun. 2016 Apr 05;7:11111
pubmed: 27045317
Int J Endocrinol. 2017;2017:8423147
pubmed: 28348588
PLoS One. 2015 Jul 15;10(7):e0132821
pubmed: 26177218
J Clin Endocrinol Metab. 2005 Dec;90(12):6373-9
pubmed: 16174717
Clin Cancer Res. 2017 Aug 1;23(15):4402-4415
pubmed: 28351929
Nature. 2012 Feb 22;483(7391):589-93
pubmed: 22367537
Nature. 2009 Apr 9;458(7239):719-24
pubmed: 19360079
Cell. 2017 Aug 24;170(5):825-827
pubmed: 28841415
Cell. 2018 May 3;173(4):1003-1013.e15
pubmed: 29681457
Ann Oncol. 2018 Jun 1;29(6):1454-1460
pubmed: 29648575
Ann Surg Oncol. 2011 Dec;18(13):3566-71
pubmed: 21594703
Oncology (Williston Park). 2014 Sep;28(9):772-8
pubmed: 25224475
Science. 1976 Oct 1;194(4260):23-8
pubmed: 959840
Nature. 2012 Jun 28;486(7404):532-6
pubmed: 22722830
Biochim Biophys Acta Rev Cancer. 2017 Apr;1867(2):151-161
pubmed: 28110020
Dis Model Mech. 2014 Aug;7(8):941-51
pubmed: 25056697
Cancer Res. 2008 May 1;68(9):3379-88
pubmed: 18451165
Nature. 2012 Apr 04;486(7403):395-9
pubmed: 22495314
Nat Med. 2015 Aug;21(8):846-53
pubmed: 26248267
Cancer Cell. 2010 Jan 19;17(1):77-88
pubmed: 20129249
Nature. 2013 Aug 22;500(7463):415-21
pubmed: 23945592
Genes Chromosomes Cancer. 2018 Dec;57(12):645-652
pubmed: 30136351
NPJ Precis Oncol. 2018 Sep 17;2:20
pubmed: 30246154
Oncologist. 2017 Mar;22(3):255-263
pubmed: 28209747
Genome Biol. 2016 Feb 22;17:31
pubmed: 26899170
Hum Mol Genet. 2016 May 1;25(9):1875-84
pubmed: 26941397
Genome Med. 2015 May 07;7(1):44
pubmed: 25949530
Mol Oncol. 2010 Jun;4(3):267-83
pubmed: 20537601
Cancer Discov. 2017 Jul 20;:null
pubmed: 28729406
Science. 2014 Jan 10;343(6167):189-193
pubmed: 24336570
Nature. 2012 Jan 11;481(7382):506-10
pubmed: 22237025
Nat Commun. 2019 Feb 8;10(1):657
pubmed: 30737380
Cell. 2017 Nov 16;171(5):1029-1041.e21
pubmed: 29056346