Landscape of genomic alterations and clinical outcomes in low-grade serous ovarian cancer in Korea

IF 1.3 Q3 OBSTETRICS & GYNECOLOGY
Yu-Seon Shim , Ji Hyun Kim , Sang-soo Seo , Sokbom Kang , Sang-Yoon Park , Myong Cheol Lim
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引用次数: 0

Abstract

Introduction

To investigate the clinical characteristics, molecular findings, and survival outcomes of patients with low-grade serous ovarian cancer in Korea, with a focus on addressing the limited data on genetic profiling and targeted therapies in Asian populations.

Methods

This study is a retrospective review of patients with pathologically confirmed LGSOC treated at the National Cancer Center Korea between 2010 and 2023. Patients underwent cytoreductive surgery and/or systemic or hormonal therapy. Molecular profiling included next-generation sequencing (NGS) of formalin-fixed, paraffin-embedded tumor samples and homologous recombination deficiency (HRD) testing. Survival outcomes were assessed using Kaplan–Meier analysis.

Results

A total of 62 patients were included, with a median age of 41 years; 61.3 % presented with advanced-stage disease. BRCA mutations were detected in 6.4 % (BRCA1: 4.8 %, BRCA2: 1.6 %). MAPK pathway alterations were identified in KRAS (11.3 %), BRAF (9.7 %), NF1 (3.7 %), and NRAS (1.2 %). Among BRAF mutations, 66.7 % were V600E, while KRAS mutations predominantly involved codon 12. ER and PR were positive in 88.7 % and 66.1 % of cases, respectively. With a median follow-up of 47.5 months, the median progression-free survival (PFS) was 169.3 months (95 % CI: 60.6–NA).

Conclusion

This study identifies frequent MAPK pathway mutations, including KRAS and BRAF, and a prevalence of BRCA1/2 mutations in low-grade serous ovarian cancer. Compared to Western cohorts, KRAS and BRAF mutations were observed at relatively lower frequencies, highlighting potential regional differences in the molecular landscape of low-grade serous ovarian cancer.
韩国低级别浆液性卵巢癌的基因组改变和临床结果
研究韩国低级别浆液性卵巢癌患者的临床特征、分子发现和生存结果,重点解决亚洲人群遗传谱和靶向治疗方面的有限数据。方法:本研究是对2010年至2023年在韩国国立癌症中心治疗的病理证实的LGSOC患者的回顾性研究。患者接受细胞减少手术和/或全身或激素治疗。分子分析包括福尔马林固定、石蜡包埋肿瘤样本的下一代测序(NGS)和同源重组缺陷(HRD)检测。使用Kaplan-Meier分析评估生存结果。结果共纳入62例患者,中位年龄41岁;61.3%为晚期疾病。BRCA突变占6.4% (BRCA1: 4.8%, BRCA2: 1.6%)。MAPK通路改变在KRAS(11.3%)、BRAF(9.7%)、NF1(3.7%)和NRAS(1.2%)中被发现。BRAF突变中V600E占66.7%,KRAS突变主要涉及密码子12。ER和PR阳性率分别为88.7%和66.1%。中位随访47.5个月,中位无进展生存期(PFS)为169.3个月(95% CI: 60.6-NA)。本研究确定了MAPK通路的频繁突变,包括KRAS和BRAF,以及BRCA1/2突变在低级别浆液性卵巢癌中的患病率。与西方队列相比,KRAS和BRAF突变的频率相对较低,突出了低级别浆液性卵巢癌分子格局的潜在区域差异。
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来源期刊
Gynecologic Oncology Reports
Gynecologic Oncology Reports OBSTETRICS & GYNECOLOGY-
CiteScore
2.00
自引率
0.00%
发文量
183
审稿时长
41 days
期刊介绍: Gynecologic Oncology Reports is an online-only, open access journal devoted to the rapid publication of narrative review articles, survey articles, case reports, case series, letters to the editor regarding previously published manuscripts and other short communications in the field of gynecologic oncology. The journal will consider papers that concern tumors of the female reproductive tract, with originality, quality, and clarity the chief criteria of acceptance.
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