Genomic characteristics of triple negative apocrine carcinoma: a comparison to triple negative breast cancer.
Journal
Experimental & molecular medicine
ISSN: 2092-6413
Titre abrégé: Exp Mol Med
Pays: United States
ID NLM: 9607880
Informations de publication
Date de publication:
07 2023
07 2023
Historique:
received:
20
10
2022
accepted:
06
04
2023
revised:
15
03
2023
medline:
3
8
2023
pubmed:
3
7
2023
entrez:
2
7
2023
Statut:
ppublish
Résumé
Apocrine carcinoma is a rare breast cancer subtype. As such, the genomic characteristics of apocrine carcinoma with triple negative immunohistochemical results (TNAC), which has been treated as triple negative breast cancer (TNBC), have not been revealed. In this study, we evaluated the genomic characteristics of TNAC compared to TNBC with low Ki-67 (LK-TNBC). In the genetic analysis of 73 TNACs and 32 LK-TNBCs, the most frequently mutated driver gene in TNAC was TP53 (16/56, 28.6%), followed by PIK3CA (9/56, 16.1%), ZNF717 (8/56, 14.3%), and PIK3R1 (6/56, 10.71%). Mutational signature analysis showed enrichment of defective DNA mismatch repair (MMR)-related signatures (SBS6 and SBS21) and the SBS5 signature in TNAC, whereas an APOBEC activity-associated mutational signature (SBS13) was more prominent in LK-TNBC (Student's t test, p < 0.05). In intrinsic subtyping, 38.4% of TNACs were classified as luminal A, 27.4% as luminal B, 26.0% as HER2-enriched (HER2-E), 2.7% as basal, and 5.5% as normal-like. The basal subtype was the most dominant subtype (43.8%) in LK-TNBC (p < 0.001), followed by luminal B (21.9%), HER2-E (21.9%), and luminal A (12.5%). In the survival analysis, TNAC had a five-year disease-free survival (DFS) rate of 92.2% compared to 59.1% for LK-TNBC (P = 0.001) and a five-year overall survival (OS) rate of 95.3% compared to 74.6% for LK-TNBC (P = 0.0099). TNAC has different genetic characteristics and better survival outcomes than LK-TNBC. In particular, normal-like and luminal A subtypes in TNAC have much better DFS and OS than other intrinsic subtypes. Our findings are expected to impact medical practice for patients diagnosed with TNAC.
Identifiants
pubmed: 37394589
doi: 10.1038/s12276-023-01030-z
pii: 10.1038/s12276-023-01030-z
pmc: PMC10394068
doi:
Substances chimiques
Biomarkers, Tumor
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1451-1461Informations de copyright
© 2023. The Author(s).
Références
Sci Adv. 2020 May 27;6(22):eaaz7835
pubmed: 32766443
Cancer Cell. 2019 Mar 18;35(3):428-440.e5
pubmed: 30853353
Genome Res. 2021 Mar;31(3):448-460
pubmed: 33441414
N Engl J Med. 2016 Aug 25;375(8):717-29
pubmed: 27557300
Breast Cancer. 2010 Oct;17(4):290-7
pubmed: 19789945
Nat Genet. 2021 Sep;53(9):1334-1347
pubmed: 34493872
Nucleic Acids Res. 2015 Dec 2;43(21):e140
pubmed: 26184878
JAMA. 2006 Jun 7;295(21):2492-502
pubmed: 16757721
Cancer Inform. 2012;11:147-56
pubmed: 22872785
Nat Biotechnol. 2019 Jul;37(7):773-782
pubmed: 31061481
Cancer Gene Ther. 2021 Feb;28(1-2):5-17
pubmed: 32457487
Brief Bioinform. 2021 Nov 5;22(6):
pubmed: 34117742
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Cell. 2018 Jun 14;173(7):1823
pubmed: 29906452
Mod Pathol. 2016 May;29(5):476-88
pubmed: 26939876
Biostatistics. 2007 Jan;8(1):118-27
pubmed: 16632515
PLoS One. 2014 Nov 12;9(11):e112024
pubmed: 25389781
Genome Biol. 2011;12(4):R41
pubmed: 21527027
Mod Pathol. 2014 Mar;27(3):352-60
pubmed: 23929266
BMC Bioinformatics. 2013 Apr 15;14:128
pubmed: 23586463
N Engl J Med. 2020 Dec 3;383(23):2207-2218
pubmed: 33264544
Nat Biotechnol. 2013 Mar;31(3):213-9
pubmed: 23396013
Mod Pathol. 2020 Dec;33(12):2473-2482
pubmed: 32504034
Clin Breast Cancer. 2022 Jun;22(4):e576-e585
pubmed: 35027319
Histol Histopathol. 2013 Nov;28(11):1393-409
pubmed: 23771415
Breast Cancer Res. 2016 Mar 15;18(1):33
pubmed: 26975198
Nature. 2012 Oct 4;490(7418):61-70
pubmed: 23000897
N Engl J Med. 2022 Jul 21;387(3):217-226
pubmed: 35857659
Clin Cancer Res. 2015 Apr 1;21(7):1688-98
pubmed: 25208879
Nature. 2000 Aug 17;406(6797):747-52
pubmed: 10963602
Nature. 2016 May 02;534(7605):47-54
pubmed: 27135926
N Engl J Med. 2008 Apr 17;358(16):1663-71
pubmed: 18420499
Bioinformatics. 2016 Apr 1;32(7):1097-9
pubmed: 26607490
Cells. 2020 Jul 08;9(7):
pubmed: 32650578
Nat Med. 2018 May;24(5):541-550
pubmed: 29686425
Nat Genet. 2011 May;43(5):491-8
pubmed: 21478889
Arch Gynecol Obstet. 2016 Feb;293(2):247-69
pubmed: 26341644
Nature. 2020 Feb;578(7793):94-101
pubmed: 32025018
Jpn J Clin Oncol. 2012 May;42(5):375-86
pubmed: 22450930
Nat Commun. 2020 Apr 24;11(1):1971
pubmed: 32332754
J Clin Oncol. 2008 May 20;26(15):2568-81
pubmed: 18487574
Am J Pathol. 2010 Jun;176(6):2911-20
pubmed: 20395444
N Engl J Med. 2010 Nov 11;363(20):1938-48
pubmed: 21067385
Breast Cancer Res Treat. 2018 Jan;167(1):89-99
pubmed: 28913760
Proc Natl Acad Sci U S A. 2005 Oct 25;102(43):15545-50
pubmed: 16199517
Sci Rep. 2020 Jan 14;10(1):225
pubmed: 31937819
Nat Commun. 2019 Jan 22;10(1):380
pubmed: 30670690
Clin Cancer Res. 2010 Nov 1;16(21):5222-32
pubmed: 20837693
Cancer Biol Med. 2020 May 15;17(2):293-306
pubmed: 32587770
Breast Cancer Res Treat. 2021 Jun;187(2):323-337
pubmed: 34043122
Ann Oncol. 2021 Oct;32(10):1236-1244
pubmed: 34311075
J Clin Med. 2022 Mar 14;11(6):
pubmed: 35329934
Ann Oncol. 2019 Aug 1;30(8):1194-1220
pubmed: 31161190
Ann Oncol. 2020 Mar;31(3):387-394
pubmed: 32067680
Hum Pathol. 2015 Sep;46(9):1350-9
pubmed: 26208846
Clin Cancer Res. 2022 Dec 15;28(24):5249-5253
pubmed: 35925043
Genome Biol. 2016 Feb 22;17:31
pubmed: 26899170
Nat Commun. 2018 Apr 10;9(1):1357
pubmed: 29636477
J Clin Invest. 2011 Jul;121(7):2750-67
pubmed: 21633166
NAR Genom Bioinform. 2020 Sep;2(3):lqaa078
pubmed: 33015620