Morgan Robert D, Burghel George J, Flaum Nicola, Bulman Michael, Smith Philip, Clamp Andrew R, Hasan Jurjees, Mitchell Claire L, Salih Zena, Woodward Emma R, Lalloo Fiona, Crosbie Emma J, Edmondson Richard J, Schlecht Helene, Jayson Gordon C, Evans D Gareth R
Department of Medical Oncology, The Christie NHS Foundation Trust, Wilmslow Road, Manchester M20 4BX, UK.
Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.
Cancers (Basel). 2023 Jan 25;15(3):730. doi: 10.3390/cancers15030730.
Women diagnosed with non-mucinous high-grade epithelial ovarian cancer (EOC) in England are often reflex-tested for germline and tumour / variants. The value of germline testing in women diagnosed aged ≥80 is questionable. We performed an observational study of all women diagnosed with non-mucinous high-grade EOC who underwent germline and tumour testing by the North West of England Genomic Laboratory Hub. A subgroup of women also underwent germline testing using a panel of homologous recombination repair (HRR) genes and/or tumour testing for homologous recombination deficiency (HRD) using Myriad's myChoice® companion diagnostic. Seven-hundred-two patients successfully underwent both germline and tumour testing. Of these, 48 were diagnosed with non-mucinous high-grade EOC aged ≥80. In this age group, somatic pathogenic/likely pathogenic variants (PV/LPVs) were detected nine times more often than germline PV/LPVs. The only germline PV reported in a patient aged ≥80 was detected in germline and tumour DNA ( c.4478_4481del). No patient aged ≥80 had a germline PV/LPVs in a non- HRR gene. Thirty-eight percent of patients aged ≥80 had a tumour positive for HRD. Our data suggest that tumour and HRD testing is adequate for patients diagnosed with non-mucinous high-grade EOC aged ≥80, with germline testing reserved for women with a tumour PV/LPVs.
在英国,被诊断患有非黏液性高级别上皮性卵巢癌(EOC)的女性通常会接受种系和肿瘤/变异的反射性检测。对80岁及以上被诊断出患有该病的女性进行种系检测的价值值得怀疑。我们对所有被诊断患有非黏液性高级别EOC并由英格兰西北部基因组实验室中心进行种系和肿瘤检测的女性进行了一项观察性研究。一组亚组女性还使用同源重组修复(HRR)基因面板进行了种系检测,和/或使用Myriad公司的myChoice®伴随诊断方法对同源重组缺陷(HRD)进行了肿瘤检测。702名患者成功接受了种系和肿瘤检测。其中,48名被诊断患有非黏液性高级别EOC的患者年龄在80岁及以上。在这个年龄组中,体细胞致病性/可能致病性变异(PV/LPVs)的检测频率比种系PV/LPVs高9倍。在一名80岁及以上患者中报告的唯一一种系PV在种系和肿瘤DNA中均被检测到(c.4478_4481del)。没有80岁及以上的患者在非HRR基因中存在种系PV/LPVs。38%的80岁及以上患者的肿瘤HRD呈阳性。我们的数据表明,对于80岁及以上被诊断患有非黏液性高级别EOC的患者,肿瘤和HRD检测就足够了,种系检测仅保留给患有肿瘤PV/LPVs的女性。