Clinical and pathological analysis of companion diagnostic testing of microsatellite instability-high for pembrolizumab in gynaecologic malignancy
Clinical and pathological analysis of companion diagnostic testing of microsatellite instability-high for pembrolizumab in gynaecologic malignancy
复制标题
派姆单抗高微卫星不稳定性伴随诊断检测在妇科恶性肿瘤中的临床和病理分析
DOI：
10.1093/jjco/hyab175
复制
发表时间：
2021
影响因子：
2.4
通讯作者：
Aoki Daisuke
中科院分区：
文献类型：
--
作者：
Takeda Takashi;Tsuji Kosuke;Kobayashi Yusuke;Banno Kouji;Aoki Daisuke
背景微卫星高不稳定性是抗PD-1/PD-L1免疫检查点治疗的已知生物标志物。它也是Lynch综合征的一个已知肿瘤特征，最常在子宫内膜癌中检测到。然而，目前还不清楚如何进行微卫星不稳定性测试在clinical field. MethodsNine 9例妇科恶性肿瘤谁进行了微卫星不稳定性测试作为pembrolizumab和16例患者的伴侣诊断谁以前接受微卫星不稳定性测试作为筛选林奇综合征被招募。临床资料，微卫星不稳定状态，结果，遗传评估和信息癌tissue.Results99例有101妇科恶性肿瘤，包括26子宫内膜，38卵巢癌和28宫颈癌，9与其他肿瘤，包括2个同步子宫内膜和卵巢癌。所有组织样本均成功检测，尽管有些样本的使用时间≥10年。3例（3.0%，3/99）微卫星高不稳定性，均为子宫内膜癌，1例同时为子宫内膜癌和卵巢癌[子宫内膜癌11.5%（3/26），卵巢癌2.6%（1/38）]，宫颈癌和其他癌无微卫星高不稳定性。其中一名子宫内膜癌患者接受了派姆单抗治疗，但最终死于癌症。另外两个病例接受了基因检测;两人都被诊断为林奇综合征。6例（37.5%）显示微卫星不稳定性高筛选Lynch syndrome.ConclusionsMicrosatellite不稳定性高是不太常见的pembrolizumab在妇科患者的伴随诊断检测。遗传咨询应始终与治疗选择一起沿着提供。
BackgroundMicrosatellite instability-high is a known biomarker for anti-PD-1/PD-L1 immune checkpoint therapy. It is also a known tumour feature of Lynch syndrome, detected most frequently in endometrial cancer. However, it remains unclear how microsatellite instability testing is carried out in the clinical field.MethodsNinety-nine patients with gynaecological malignant tumours who underwent microsatellite instability testing as a companion diagnosis for pembrolizumab and 16 patients who previously underwent microsatellite instability testing as a screening for Lynch syndrome were recruited. Clinical information, microsatellite instability status, outcomes, genetic assessments and information about cancer tissue were retrospectively analysed.ResultsNinety-nine patients had 101 gynaecologic malignant tumours including 26 endometrial, 38 ovarian and 28 cervical cancers, 9 with other tumours including 2 synchronous endometrial and ovarian cancers. All tissue samples were successfully tested, even though some were ≥10-year-old samples. Three cases (3.0%, 3/99) showed microsatellite instability-high; all cases were endometrial cancers with one case of synchronous endometrial and ovarian cancer [11.5% (3/26) in endometrial cancer, 2.6% (1/38) in ovarian cancer], and there was no microsatellite instability-high in cervical and other cancers. One of the endometrial cancer patients received pembrolizumab treatment, but finally died of cancer. Two other cases underwent genetic testing; both were diagnosed as Lynch syndrome. Six cases (37.5%) showed microsatellite instability-high in screening for Lynch syndrome.ConclusionsMicrosatellite instability-high was less commonly detected as a companion diagnosis for pembrolizumab in unselected gynaecologic patients. Genetic counselling should be always provided along with treatment selection.