成人粒状细胞瘤患者中FOXL2突变循环瘤DNA的预后价值
Geertruid J Brink1, Nizar Hami2, Hans W Nijman3
1Department of Gynecologic Oncology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
Cancers
|June 13, 2025
概括
FOXL2循环瘤DNA (ctDNA) 显示为成人型粒状细胞瘤 (aGCT) 的预后生物标志物具有前景. 可检测到的FOXL2ctDNA表明生存率更差,潜在的残留疾病最小,有助于识别高风险患者.
科学领域:
- 妇科瘤学 妇科瘤学
- 分子诊断学 分子诊断
- 癌症生物标志物 癌症生物标志物
背景情况:
- 成人型颗粒细胞瘤 (aGCT) 是一种罕见的卵巢恶性瘤.
- 准确的预后生物标志物和治疗监测工具对于管理aGCT至关重要.
- 循环瘤DNA (ctDNA) 是一个新兴的非侵入性生物标志物.
研究的目的:
- 评估FOXL2循环瘤DNA (ctDNA) 作为aGCT中的预后生物标志物.
- 评估FOXL2 ctDNA在监测aGCT患者治疗反应中的实用性.
- 为了将FOXL2 ctDNA存在与aGCT中的临床结果相关联.
主要方法:
- 在GRANULOSA研究中,分析了54名患者 (20例初级,34例复发性aGCT) 的血样本.
- 数字滴滴PCR被用于检测ctDNA中的FOXL2 402C>G突变.
- 手术前,手术后,随访期间和治疗期间收集样本;审查了临床数据.
主要成果:
- 在48%的患者中检测到FOXL2突变ctDNA.
- 在复发的aGCT中,可检测的ctDNA与明显较差的整体存活率相关 (p=0.023).
- 脱皮手术后的术后ctDNA与较短的无复发存活时间 (4.7个月对11.6个月,p=0.025) 有关.
结论:
- 福克斯L2突变ctDNA作为aGCT的潜在预后生物标志物,与复发病例的生存率较差有关.
- 手术后ctDNA检测可能表明最小的残留疾病,对预后产生负面影响.
- 实施FOXL2ctDNA测量可以帮助识别高风险的aGCT患者以进行量身定制的管理.
相关概念视频
01:12Loss of Tumor Suppressor Gene Functions
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
01:12Loss of Tumor Suppressor Gene Functions
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...