Diagnostic Potential of Endometrial Cancer DNA from Pipelle, Pap-Brush, and Swab Sampling

Wang，Yinan1,2,3,4; Du，Hui1,3,4; Dai，Wenkui1,3,4; Bao，Cuijun1,3,4; Zhang，Xi5; Hu，Yan1,3,4; Xie，Zhiyu5; Zhao，Xin6; Li，Changzhong1,3,4; Zhang，Wenyong2; Wu，Ruifang1,3,4

2023-07-01

10.3390/cancers15133522

Cancers   影响因子和分区

2072-6694

Endometrial cancer (EC) is a major gynecological malignancy with rising morbidity and mortality worldwide. The aim of this study was to explore a safe and readily available sample and a sensitive and effective detection method and its biomarkers for early diagnosis of EC, which is critical for patient prognosis. This study designed a panel targeting variants for EC-related genes, assessed its technical performance by comparing it with whole-exon sequencing, and explored the diagnostic potential of endometrial biopsies using the Pipelle aspirator, cervical samples using the Pap brush, and vaginal specimens using the swab from 38 EC patients and 208 women with risk factors for EC by applying targeted panel sequencing (TPS). TPS produced high-quality data (Q30 > 85% and mapping ratios > 99.35%) and was found to have strong consistency with whole-exome sequencing (WES) in detecting pathogenic mutations (92.11%), calculating homologous recombination deficiency (HRD) scores (r = 0.65), and assessing the microsatellite instability (MSI) status of EC (100%). The sensitivity of TPS in detection of EC is slightly better than that of WES (86.84% vs. 84.21%). Of the three types of samples detected using TPS, endometrial biopsy using the Pipelle aspirator had the highest sensitivity in detection of pathogenic mutations (81.87%) and the best consistency with surgical tumor specimens in MSI (85.16%). About 84% of EC patients contained pathogenic mutations in PIK3CA, PTEN, TP53, ARID1A, CTNNB1, KRAS, and MTOR, suggesting that this small gene set can achieve an excellent pathogenic mutation detection rate in Chinese EC patients. The custom panel combined with ultra-deep sequencing serves as a sensitive method for detecting genetic lesions from endometrial biopsy using the Pipelle aspirator.

early diagnosis endometrial cancer endometrial specimens minimally invasive methods targeted NGS panel

SCI

英语

其他

Science and Technology Planning Project of Shenzhen Municipality[JCYJ20150601090833370];Science and Technology Planning Project of Shenzhen Municipality[JCYJ20220818102811025];Sanming Project of Medicine in Shenzhen[SZSM202011016];

Oncology

Oncology

WOS:001033247300001

MDPI

2-s2.0-85164948751

Scopus

1.Department of Obstetrics and Gynecology,Peking University Shenzhen Hospital,Shenzhen,518036,China
2.School of Medicine,Southern University of Science and Technology,Shenzhen,1088 Xueyuan Avenue,518055,China
3.Institute of Obstetrics and Gynecology,Shenzhen PKU-HKUST Medical Center,Shenzhen,518036,China
4.Shenzhen Key Laboratory on Technology for Early Diagnosis of Major Gynecologic Diseases,Shenzhen,518036,China
5.Department of Clinical Medicine,Xi’an Jiaotong University,Xi’an,710049,China
6.China National GeneBank,BGI-Shenzhen,Shenzhen,518116,China

Wang，Yinan,Du，Hui,Dai，Wenkui,et al. Diagnostic Potential of Endometrial Cancer DNA from Pipelle, Pap-Brush, and Swab Sampling[J]. Cancers,2023,15(13).

Wang，Yinan.,Du，Hui.,Dai，Wenkui.,Bao，Cuijun.,Zhang，Xi.,...&Wu，Ruifang.(2023).Diagnostic Potential of Endometrial Cancer DNA from Pipelle, Pap-Brush, and Swab Sampling.Cancers,15(13).

Wang，Yinan,et al."Diagnostic Potential of Endometrial Cancer DNA from Pipelle, Pap-Brush, and Swab Sampling".Cancers 15.13(2023).