【佳学基因检测】基因检测揭示 CA125 和 HE4 生物标志物与 CT 成像表型在区分遗传性和散发性卵巢癌患者方面的应用

肿瘤基因检测有用吗分析

分析肿瘤分子诊断与基因分析了解《Tumour Biol》在. 2022;44(1):171-185.发表了一篇题目为《基因检测揭示 CA125 和 HE4 生物标志物与 CT 成像表型在区分遗传性和散发性卵巢癌患者方面的应用》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Lucia Manganaro, Veronica Celli, Valentina Viggiani, Elena Berardelli, Teresa Granato, Sara Tartaglione, Antonella Farina, Carlo Catalano, Antonio Angeloni, Emanuela Anastasi 等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤靶向药物及精准治疗临床研究内容关键词：

BRCA, HE4-CA125,卵巢癌, CT检查,基因检测,遗传性

肿瘤靶向治疗基因检测临床应用结果

基因检测结果与CT结果相关性的项目背景：遗传性卵巢癌 (HOC) 约占卵巢癌 (OC) 病例的 23%：它们最常与 BRCA 基因的种系突变相关。目的：基因检测结果与CT结果相关性的项目旨在比较 CA125/HE4 血清水平和计算机断层扫描 (CT)两个人群卵巢癌 (OC) 诊断时的特征：基因检测BRCA 突变型和 BRCA 野生型 (WT) 卵巢癌，并探讨本实验室与放射生物标志物和 BRCA 突变状态之间的关系。基因检测结果与CT结果相关性的项目的研究方法：本回顾性研究包括 60诊断为FIGO IIIC-IV期疾病的卵巢癌患者，通过基因检测明确BRCA1/2种系突变状态，术前CT扫描和血清肿瘤标志物测定可用。基因检测结果与CT结果相关性的项目的研究结果：CA125的中位水平（708 U/mL）显着升高（p < 0.002) BRCA1/2 突变患者比 WT 患者 (176 U/mL)，而 WT 中 HE4 的中位水平 (492 pmol/L) 显着高于 (p < 0.002) 比 BRCA 突变患者 (252 pmol/L)。基因检测BRCA 突变携带者显示双侧卵巢肿块的发生率较高 (p = 0.0303)，其特征是实体结构 (p < 0.00001)、腹膜肿瘤负荷较高、大结节植入物 >2 cm (p = 0.000099)、淋巴结病频率增加 (p = 0.019 ) 和转移 (p = 0.052) 与 BRCA WT 患者相比。基因检测结果与CT结果相关性的项目结论：肿瘤标志物和 CT 模式可能有助于识别卵巢癌中的 BRCA 突变状态，指导患者进行个性化治疗。 HE4-CA125；卵巢癌; CT检查。

肿瘤发生与复发转移国际数据库描述：

Background: Hereditary ovarian cancers (HOC) represent about 23% of ovarian cancer (OC) cases: they are most frequently related to germline mutations in the BRCA genes.Objective: We aimed to compare CA125/HE4 serum levels and Computed Tomography (CT) features at time of ovarian cancer (OC) diagnosis in two populations: BRCA mutant and BRCA wild-type (WT) OC, and to investigate the relationship between this laboratory and radiological biomarker and BRCA mutation status.Methods: This retrospective study included 60 newly diagnosed OC patients with FIGO stage IIIC-IV disease, tested for BRCA1/2 germline mutation status of which preoperative CT scan and serum tumor marker assay were available.Results: The median level of CA125 (708 U/mL) was significantly higher (p < 0.002) in BRCA1/2 mutated patients than in WT patients (176 U/mL), whereas the median level of HE4 (492 pmol/L) was significantly higher (p < 0.002) in WT than in BRCA-mutated patients (252 pmol/L). BRCA mutation carriers showed a higher incidence of bilateral ovarian masses (p = 0.0303) characterized by solid structures (p < 0.00001), higher peritoneal tumor load, macronodular implants >2 cm (p = 0.000099), increased frequency of lymphadenopathies (p = 0.019), and metastasis (p = 0.052) compared to patients with BRCA WT.Conclusions: Tumor markers and CT patterns may help in identifying BRCA mutation status in OC directing patients towards a personalized treatment.Keywords: BRCA; HE4-CA125; Ovarian cancer; computed tomography.