【佳學(xué)基因檢測(cè)】基因檢測(cè)揭示 CA125 和 HE4 生物標(biāo)志物與 CT 成像表型在區(qū)分遺傳性和散發(fā)性卵巢癌患者方面的應(yīng)用

腫瘤基因檢測(cè)有用嗎分析

分析腫瘤分子診斷與基因分析了解《Tumour Biol》在.?2022;44(1):171-185.發(fā)表了一篇題目為《基因檢測(cè)揭示 CA125 和 HE4 生物標(biāo)志物與 CT 成像表型在區(qū)分遺傳性和散發(fā)性卵巢癌患者方面的應(yīng)用》腫瘤靶向藥物治療基因檢測(cè)臨床研究文章。該研究由Lucia Manganaro,?Veronica Celli,?Valentina Viggiani,?Elena Berardelli,?Teresa Granato,?Sara Tartaglione,?Antonella Farina,?Carlo Catalano,?Antonio Angeloni,?Emanuela Anastasi?等完成。促進(jìn)了腫瘤的正確治療與個(gè)性化用藥的發(fā)展，進(jìn)一步強(qiáng)調(diào)了基因信息檢測(cè)與分析的重要性。

腫瘤靶向藥物及正確治療臨床研究?jī)?nèi)容關(guān)鍵詞：

BRCA, HE4-CA125,卵巢癌, CT檢查,基因檢測(cè),遺傳性

腫瘤靶向治療基因檢測(cè)臨床應(yīng)用結(jié)果

基因檢測(cè)結(jié)果與CT結(jié)果相關(guān)性的項(xiàng)目背景：遺傳性卵巢癌 (HOC) 約占卵巢癌 (OC) 病例的 23%：它們賊常與 BRCA 基因的種系突變相關(guān)。目的：基因檢測(cè)結(jié)果與CT結(jié)果相關(guān)性的項(xiàng)目旨在比較 CA125/HE4 血清水平和計(jì)算機(jī)斷層掃描 (CT)兩個(gè)人群卵巢癌 (OC) 診斷時(shí)的特征：基因檢測(cè)BRCA 突變型和 BRCA 野生型 (WT) 卵巢癌，并探討本實(shí)驗(yàn)室與放射生物標(biāo)志物和 BRCA 突變狀態(tài)之間的關(guān)系?；驒z測(cè)結(jié)果與CT結(jié)果相關(guān)性的項(xiàng)目的研究方法：本回顧性研究包括 60診斷為FIGO IIIC-IV期疾病的卵巢癌患者，通過(guò)基因檢測(cè)明確BRCA1/2種系突變狀態(tài)，術(shù)前CT掃描和血清腫瘤標(biāo)志物測(cè)定可用。基因檢測(cè)結(jié)果與CT結(jié)果相關(guān)性的項(xiàng)目的研究結(jié)果：CA125的中位水平（708 U/mL）顯著升高（p < 0.002) BRCA1/2 突變患者比 WT 患者 (176 U/mL)，而 WT 中 HE4 的中位水平 (492 pmol/L) 顯著高于 (p < 0.002) 比 BRCA 突變患者 (252 pmol/L)?；驒z測(cè)BRCA 突變攜帶者顯示雙側(cè)卵巢腫塊的發(fā)生率較高 (p = 0.0303)，其特征是實(shí)體結(jié)構(gòu) (p < 0.00001)、腹膜腫瘤負(fù)荷較高、大結(jié)節(jié)植入物 >2 cm (p = 0.000099)、淋巴結(jié)病頻率增加 (p = 0.019 ) 和轉(zhuǎn)移 (p = 0.052) 與 BRCA WT 患者相比?；驒z測(cè)結(jié)果與CT結(jié)果相關(guān)性的項(xiàng)目結(jié)論：腫瘤標(biāo)志物和 CT 模式可能有助于識(shí)別卵巢癌中的 BRCA 突變狀態(tài)，指導(dǎo)患者進(jìn)行個(gè)性化治療。 HE4-CA125；卵巢癌; CT檢查。

腫瘤發(fā)生與反復(fù)轉(zhuǎn)移國(guó)際數(shù)據(jù)庫(kù)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.