卵巢间变性癌:单一机构的经验和分子分析。

IF 4.5 2区 医学 Q1 OBSTETRICS & GYNECOLOGY
Mackenzie W. Sullivan , M. Herman Chui , Pier Selenica , Kara Long Roche , Yukio Sonoda , Rachel N. Grisham , Chrisann Kyi , Amir Momeni-Boroujeni , Nadeem R. Abu-Rustum , Britta Weigelt , Roisin E. O'Cearbhaill
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引用次数: 0

摘要

目的:我们描述三级转诊中心的经验与卵巢癌间变性和特征的遗传景观这些罕见的肿瘤。方法:从2013年至2023年的机构数据库中回顾性鉴定间变性卵巢癌。临床数据和生存结果从电子病历中提取。分子数据通过临床肿瘤-正常组测序获得。结果:共发现肿瘤13例;12例(92%)与黏液癌相关或由黏液癌引起,6例(46%)发现于壁结节。诊断时的中位年龄为39岁(范围19-77岁);6例患者为I期(3例为IA期),1例为II期,5例为III期,1例为IV期。所有患者均接受了手术。术后一线治疗包括卡铂-紫杉醇双药(n = 8), 5-氟尿嘧啶-奥沙利铂为基础的方案(FOLFOX, n = 1;XELOX, n = 2)和异环磷酰胺/紫杉醇(n = 1)。2例患者未接受早期疾病的辅助化疗。6例出现进展或复发;5例患有铂难治性疾病,1例初始无进展间隔为6.8个月。7例无复发,中位随访时间为79.7个月。所有患者的中位总生存期为28.1个月(范围7.8-139.2)。5名病人死于这种疾病。10例患者进行了临床面板测序,发现复发性体细胞KRAS G12D/V热点突变(8 / 10,80%)和影响细胞周期相关基因的遗传改变,包括TP53(6 / 10, 60%)和CDKN2A(6 / 10, 60%)。结论:间变性卵巢癌以KRAS、TP53和CKDN2A改变为特征。由于铂难治性疾病的高发率,需要新的治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Anaplastic carcinoma of the ovary: A single-institution experience and molecular analysis

Objective

We describe a tertiary referral center's experience with anaplastic ovarian carcinoma and characterize the genetic landscape of these rare tumors.

Methods

Anaplastic ovarian carcinomas were retrospectively identified from institutional databases from 2013 to 2023. Clinical data and survival outcomes were abstracted from the electronic medical record. Molecular data were obtained from clinical tumor-normal panel sequencing.

Results

Thirteen tumors were identified; 12 (92 %) were associated with or arose from a mucinous carcinoma, and 6 (46 %) were found in a mural nodule. Median age at diagnosis was 39 years (range, 19–77); 6 patients had stage I disease (3 stage IA), 1 had stage II, 5 had stage III, and 1 had stage IV. All patients underwent surgery. First-line postoperative therapy included carboplatin-paclitaxel doublet (n = 8), a 5-fluorouracil-oxaliplatin-based regimen (FOLFOX, n = 1; XELOX, n = 2), and ifosfamide/paclitaxel (n = 1). Two patients did not receive adjuvant chemotherapy for early-stage disease. Six patients had progression or recurrence; 5 had platinum-refractory disease and 1 had an initial progression-free interval of 6.8 months. For the 7 patients without recurrence, median follow-up was 79.7 months. Median overall survival for all patients was 28.1 months (range, 7.8–139.2). Five patients died of their disease. Ten patients had clinical panel sequencing, revealing recurrent somatic KRAS G12D/V hotspot mutations (8 of 10, 80 %) and genetic alterations affecting cell cycle-related genes, including TP53 (6 of 10, 60 %) and CDKN2A (6 of 10, 60 %).

Conclusions

Anaplastic ovarian carcinoma is characterized by KRAS, TP53, and CDKN2A alterations. Novel treatment approaches are needed due to the high rate of platinum-refractory disease.
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来源期刊
Gynecologic oncology
Gynecologic oncology 医学-妇产科学
CiteScore
8.60
自引率
6.40%
发文量
1062
审稿时长
37 days
期刊介绍: Gynecologic Oncology, an international journal, is devoted to the publication of clinical and investigative articles that concern tumors of the female reproductive tract. Investigations relating to the etiology, diagnosis, and treatment of female cancers, as well as research from any of the disciplines related to this field of interest, are published. Research Areas Include: • Cell and molecular biology • Chemotherapy • Cytology • Endocrinology • Epidemiology • Genetics • Gynecologic surgery • Immunology • Pathology • Radiotherapy
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