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低检测率与高患病率:中东地区聚(ADP - 核糖)聚合酶抑制剂在同源重组缺陷阳性癌症患者中的应用

Low testing rates and high prevalence: Poly (ADP-ribose) polymerase inhibitor use in Middle East /homologous recombination deficiency-positive cancer patients.

作者信息

Syed Naveed, Chintakuntlawar Ashish Vittalrao, Vilasini Deepti, Al Salami Aisha Mohamed, Al Hasan Riad, Afrooz Imrana, Uttam Chandani Kanishka, Chandani Ashok Uttam, Chehal Aref

机构信息

Department of Hematology and Oncology, Sheikh Shakbout Medical City, Abu Dhabi 11001, United Arab Emirates.

Department of Oncology, Mayo Clinic, Rochester, NY 790339, United States.

出版信息

World J Clin Oncol. 2024 Jul 24;15(7):848-858. doi: 10.5306/wjco.v15.i7.848.

Abstract

BACKGROUND

Poly (ADP-ribose) polymerase inhibitors (PARPis) are approved as first-line therapies for breast cancer gene ()-positive, human epidermal growth factor receptor 2-negative locally advanced or metastatic breast cancer. They are also effective for new and recurrent ovarian cancers that are - or homologous recombination deficiency (HRD)-positive. However, data on these mutations and PARPi use in the Middle East are limited.

AIM

To assess /HRD prevalence and PARPi use in patients in the Middle East with breast/ovarian cancer.

METHODS

This was a single-center retrospective study of 57 of 472 breast cancer patients tested for mutations, and 25 of 65 ovarian cancer patients tested for HRD. These adult patients participated in at least four visits to the oncology service at our center between August 2021 and May 2023. Data were summarized using descriptive statistics and compared using counts and percentages. Response to treatment was assessed using Response Evaluation Criteria in Solid Tumors criteria.

RESULTS

Among the 472 breast cancer patients, 12.1% underwent testing, and 38.5% of 65 ovarian cancer patients received HRD testing. Pathogenic mutations were found in 25.6% of the tested patients: 26.3% breast cancers had germline () mutations and 24.0% ovarian cancers showed HRD. Notably, 40.0% of -positive breast cancers and 66.0% of HRD-positive ovarian cancers were Middle Eastern and Asian patients, respectively. PARPi treatment was used in 5 (33.3%) -positive breast cancer patients as first-line therapy ( = 1; 7-months progression-free), for maintenance ( = 2; > 15-months progression-free), or at later stages due to compliance issues ( = 2). Four patients (66.6%) with HRD-positive ovarian cancer received PARPi and all remained progression-free.

CONCLUSION

Lower testing rates but higher mutations in breast cancer were found. Ethnicity reflected United Arab Emirates demographics, with breast cancer in Middle Eastern and ovarian cancer in Asian patients.

摘要

背景

聚(ADP - 核糖)聚合酶抑制剂(PARPis)被批准作为乳腺癌基因()阳性、人表皮生长因子受体2阴性局部晚期或转移性乳腺癌的一线治疗药物。它们对BRCA或同源重组缺陷(HRD)阳性的新发和复发性卵巢癌也有效。然而,关于中东地区这些突变及PARPi使用的数据有限。

目的

评估中东地区乳腺癌/卵巢癌患者中BRCA/HRD的患病率及PARPi的使用情况。

方法

这是一项单中心回顾性研究,对472例接受BRCA突变检测的乳腺癌患者中的57例,以及65例接受HRD检测的卵巢癌患者中的25例进行研究。这些成年患者在2021年8月至2023年5月期间至少4次到我们中心的肿瘤科室就诊。数据采用描述性统计进行总结,并使用计数和百分比进行比较。使用实体瘤疗效评价标准评估治疗反应。

结果

在472例乳腺癌患者中,12.1%接受了BRCA检测,65例卵巢癌患者中有38.5%接受了HRD检测。在接受检测的患者中,25.6%发现了致病突变:26.3%的乳腺癌有胚系BRCA()突变,24.0%的卵巢癌显示HRD。值得注意的是,BRCA阳性乳腺癌患者中40.0%为中东和亚洲患者,HRD阳性卵巢癌患者中66.0%为中东和亚洲患者。5例(33.3%)BRCA阳性乳腺癌患者使用PARPi作为一线治疗(1例;无进展生存期7个月)、维持治疗(2例;无进展生存期>15个月)或因依从性问题在后期使用(2例)。4例(66.6%)HRD阳性卵巢癌患者接受了PARPi治疗,且均保持无进展。

结论

发现乳腺癌的检测率较低,但BRCA突变率较高。种族情况反映了阿联酋的人口统计学特征,中东地区患者患乳腺癌,亚洲患者患卵巢癌。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4905/11271736/af0cb137ec53/WJCO-15-848-g001.jpg

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