A comprehensive molecular analysis of 113 primary ovarian clear cell carcinomas reveals common therapeutically significant aberrations.
Capture DNA NGS
POLE mutation
RNA-Seq
Rare ovarian tumors
Journal
Diagnostic pathology
ISSN: 1746-1596
Titre abrégé: Diagn Pathol
Pays: England
ID NLM: 101251558
Informations de publication
Date de publication:
12 Jun 2023
12 Jun 2023
Historique:
received:
21
04
2023
accepted:
22
05
2023
medline:
13
6
2023
pubmed:
12
6
2023
entrez:
11
6
2023
Statut:
epublish
Résumé
Molecular aberrations occurring in primary ovarian clear cell carcinoma (OCCC) can be of diagnostic, predictive, and prognostic significance. However, a complex molecular study including genomic and transcriptomic analysis of large number of OCCC has been lacking. 113 pathologically confirmed primary OCCCs were analyzed using capture DNA NGS (100 cases; 727 solid cancer related genes) and RNA-Seq (105 cases; 147 genes) in order to describe spectra and frequency of genomic and transcriptomic alterations, as well as their prognostic and predictive significance. The most frequent mutations were detected in genes ARID1A, PIK3CA, TERTp, KRAS, TP53, ATM, PPP2R1A, NF1, PTEN, and POLE (51,47,27,18,13,10,7,6,6, and 4%, respectively). TMB-High cases were detected in 9% of cases. Cases with POLE The current work has elucidated the complex genomic and transcriptomic molecular hallmarks of primary OCCCs. Our results confirmed the favorable outcomes of POLE
Sections du résumé
BACKGROUND
BACKGROUND
Molecular aberrations occurring in primary ovarian clear cell carcinoma (OCCC) can be of diagnostic, predictive, and prognostic significance. However, a complex molecular study including genomic and transcriptomic analysis of large number of OCCC has been lacking.
METHODS
METHODS
113 pathologically confirmed primary OCCCs were analyzed using capture DNA NGS (100 cases; 727 solid cancer related genes) and RNA-Seq (105 cases; 147 genes) in order to describe spectra and frequency of genomic and transcriptomic alterations, as well as their prognostic and predictive significance.
RESULTS
RESULTS
The most frequent mutations were detected in genes ARID1A, PIK3CA, TERTp, KRAS, TP53, ATM, PPP2R1A, NF1, PTEN, and POLE (51,47,27,18,13,10,7,6,6, and 4%, respectively). TMB-High cases were detected in 9% of cases. Cases with POLE
CONCLUSIONS
CONCLUSIONS
The current work has elucidated the complex genomic and transcriptomic molecular hallmarks of primary OCCCs. Our results confirmed the favorable outcomes of POLE
Identifiants
pubmed: 37303048
doi: 10.1186/s13000-023-01358-0
pii: 10.1186/s13000-023-01358-0
pmc: PMC10259037
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
72Subventions
Organisme : Ministerstvo Zdravotnictví Ceské Republiky
ID : NV19-03-00007
Organisme : European Regional Development Fund
ID : BBMRI_CZ LM2023033
Informations de copyright
© 2023. The Author(s).
Références
Healthcare (Basel). 2019 Jul 30;7(3):
pubmed: 31366141
Am J Surg Pathol. 2011 Jan;35(1):36-44
pubmed: 21164285
Cancer Epidemiol Biomarkers Prev. 2018 Sep;27(9):1101-1109
pubmed: 29967001
Gynecol Oncol. 2017 Feb;144(2):377-383
pubmed: 27939411
Front Oncol. 2022 Jan 12;11:798173
pubmed: 35096598
Oncotarget. 2017 Jul 18;8(29):46891-46899
pubmed: 28423358
Expert Opin Ther Targets. 2012 Mar;16(3):313-24
pubmed: 22339244
Cancer Discov. 2015 Jul;5(7):752-67
pubmed: 26069190
Gynecol Oncol. 2022 Jun;165(3):577-584
pubmed: 35370008
Br J Cancer. 2017 Aug 22;117(5):717-724
pubmed: 28728166
Clin Cancer Res. 2022 Nov 14;28(22):4947-4956
pubmed: 35816189
Nat Commun. 2016 Dec 13;7:13837
pubmed: 27958275
Clin Cancer Res. 2018 Mar 15;24(6):1337-1343
pubmed: 29284707
JCO Precis Oncol. 2017 Jul;2017:
pubmed: 28890946
Cell. 2010 Jun 25;141(7):1117-34
pubmed: 20602996
Int J Cancer. 2018 Sep 15;143(6):1379-1387
pubmed: 29633253
Front Oncol. 2020 Dec 22;10:598579
pubmed: 33415077
Int J Mol Sci. 2019 Sep 04;20(18):
pubmed: 31487856
Sci Rep. 2019 Mar 26;9(1):5179
pubmed: 30914738
Genes Chromosomes Cancer. 2018 Feb;57(2):51-60
pubmed: 29044863
Pathology. 2015 Feb;47(2):105-11
pubmed: 25551297
Nat Cell Biol. 2017 Aug;19(8):962-973
pubmed: 28737768
Gynecol Oncol. 2016 Apr;141(1):95-100
pubmed: 27016234
Am J Pathol. 2017 Oct;187(10):2246-2258
pubmed: 28888422
Am J Surg Pathol. 2009 Jan;33(1):14-21
pubmed: 18830127
Cell Rep. 2018 Mar 27;22(13):3393-3400
pubmed: 29590609
Cancers (Basel). 2021 Oct 19;13(20):
pubmed: 34680390
Semin Cancer Biol. 2020 Apr;61:121-131
pubmed: 31698086
Am J Clin Pathol. 2018 Mar 07;149(4):352-361
pubmed: 29474637
Virchows Arch. 2022 Feb;480(2):281-291
pubmed: 34626221
J Med Genet. 2020 Sep;57(9):605-609
pubmed: 31862729
Cancer Epidemiol Biomarkers Prev. 2022 Jan;31(1):132-141
pubmed: 34697060
Sci Rep. 2019 Nov 28;9(1):17808
pubmed: 31780705
Histopathology. 2017 Jan;70(2):309-313
pubmed: 27442838
Int J Gynecol Cancer. 2016 May;26(4):648-54
pubmed: 26937756
PLoS One. 2011;6(7):e21121
pubmed: 21754983
J Cancer. 2021 Feb 22;12(8):2295-2316
pubmed: 33758607