한빛사논문
- 조회458
Ji-Yeon Kim1,2,3,7, Sabin Park4,7, Eun Yoon Cho5,7, Jeong Eon Lee3,6,7, Hae Hyun Jung2,3, Byung Joo Chae6, Seok Won Kim6, Seok Jin Nam6, Soo Youn Cho5, Yeon Hee Park1,3, Jin Seok Ahn1, Semin Lee4 and Young-Hyuck Im1,2,3
1Division of Hematology-Oncology, Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.
2Biomedical Research Institute, Samsung Medical Center, Seoul 06351, Republic of Korea.
3Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Seoul 06351, Republic of Korea.
4Department of Biomedical Engineering, College of Information-Bio Convergence Engineering, Ulsan National Institute of Science and Technology, Ulsan 44919, Republic of Korea.
5Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.
6Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.
7These authors contributed equally: Ji-Yeon Kim, Sabin Park, Eun Yoon Cho, Jeong Eon Lee
These authors contributed equally: Ji-Yeon Kim, Sabin Park, Eun Yoon Cho, Jeong Eon Lee.
Corresponding authors : Correspondence to Ji-Yeon Kim, Semin Lee or Young-Hyuck Im.
Abstract
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.
논문정보
- Research article
- 2023년 07월 (BRIC 등록일 2023-07-24)
- 국내 연구진
- 의약학 > 종양의학
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