Application of NGS molecular classification in the diagnosis of endometrial carcinoma: A supplement to traditional pathological diagnosis

Abstract Objective This study aims to demonstrate the advantages of NGS molecular classification in EC diagnosis and to assess whether molecular classification could be performed on curettage specimens and its concordance with subsequent hysterectomy specimens. Methods 80 patients with hysterectomy...

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Main Authors: Qunxian Rao, Jianwei Liao, Yangyang Li, Xin Zhang, Guocai Xu, Changbin Zhu, Shengya Tian, Qiuhong Chen, Hui Zhou, Bingzhong Zhang
Format: Article
Language:English
Published: Wiley 2023-03-01
Series:Cancer Medicine
Subjects:
Online Access:https://doi.org/10.1002/cam4.5363
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author Qunxian Rao
Jianwei Liao
Yangyang Li
Xin Zhang
Guocai Xu
Changbin Zhu
Shengya Tian
Qiuhong Chen
Hui Zhou
Bingzhong Zhang
author_facet Qunxian Rao
Jianwei Liao
Yangyang Li
Xin Zhang
Guocai Xu
Changbin Zhu
Shengya Tian
Qiuhong Chen
Hui Zhou
Bingzhong Zhang
author_sort Qunxian Rao
collection DOAJ
description Abstract Objective This study aims to demonstrate the advantages of NGS molecular classification in EC diagnosis and to assess whether molecular classification could be performed on curettage specimens and its concordance with subsequent hysterectomy specimens. Methods 80 patients with hysterectomy specimens and 35/80 patients with paired curettage specimens were stratified as POLE mut, MSI‐H, TP53 wt, or TP53 abn group by NGS panel. Histotype, tumor grade, IHC results, and other pathological details were taken from original pathological reports. Results The correlation analysis of 80 patients with hysterectomy specimens between NGS molecular classification and clinicopathological characters displayed that the POLE mut group was associated with EEC (87.5%) and TP53 abn subtype was correlated to a later stage (Stage II–IV, 47.6%), G3 (76.2%), serous histology (61.9%) and myometrial invasion ≥50% (47.6%). A favorable concordance (31/32, 96.9%) was shown in MSI analysis and MMR IHC results, and the agreement rate of p53 IHC and TP53 mutation was 81.5% (53/65). Compared with the p53 IHC abnormal group, the TP53 mutation group had a higher correlation with high‐risk factors. A high level of concordance (31/35, 88.0%) of NGS molecular classification was achieved between curettage specimens and hysterectomy specimens while grade and histotype (including unclassified group) from curettage specimens and hysterectomy specimens showed only moderate levels of agreement, 54.3% (19/35) and 68.6% (24/35), respectively. Conclusion NGS molecular classification achieved on curettage samples showed high concordance with the final hysterectomy specimens, demonstrating superior to the conventional pathological assessment of grade and histotype and potential utilization in clinical practice.
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spelling doaj.art-5cfd1a5a1de04ae99b971eb02c7d7b1c2023-03-21T05:20:40ZengWileyCancer Medicine2045-76342023-03-011255409541910.1002/cam4.5363Application of NGS molecular classification in the diagnosis of endometrial carcinoma: A supplement to traditional pathological diagnosisQunxian Rao0Jianwei Liao1Yangyang Li2Xin Zhang3Guocai Xu4Changbin Zhu5Shengya Tian6Qiuhong Chen7Hui Zhou8Bingzhong Zhang9Department of Gynecologic Oncology, Sun Yat‐sen Memorial Hospital Sun Yat‐sen University Guangzhou People's Republic of ChinaCellular and Molecular Diagnostics Center, Sun Yat‐sen Memorial Hospital Sun Yat‐sen University Guangzhou ChinaDepartment of Pathology, Sun Yat‐sen Memorial Hospital Sun Yat‐sen University Guangzhou ChinaDepartment of Ultrasound, Sun Yat‐sen Memorial Hospital Sun Yat‐sen University Guangzhou ChinaDepartment of Gynecologic Oncology, Sun Yat‐sen Memorial Hospital Sun Yat‐sen University Guangzhou People's Republic of ChinaDepartment of Translational Medicine Amoy Diagnostics Co., Ltd. Xiamen ChinaDepartment of Translational Medicine Amoy Diagnostics Co., Ltd. Xiamen ChinaDepartment of Translational Medicine Amoy Diagnostics Co., Ltd. Xiamen ChinaDepartment of Gynecologic Oncology, Sun Yat‐sen Memorial Hospital Sun Yat‐sen University Guangzhou People's Republic of ChinaDepartment of Gynecologic Oncology, Sun Yat‐sen Memorial Hospital Sun Yat‐sen University Guangzhou People's Republic of ChinaAbstract Objective This study aims to demonstrate the advantages of NGS molecular classification in EC diagnosis and to assess whether molecular classification could be performed on curettage specimens and its concordance with subsequent hysterectomy specimens. Methods 80 patients with hysterectomy specimens and 35/80 patients with paired curettage specimens were stratified as POLE mut, MSI‐H, TP53 wt, or TP53 abn group by NGS panel. Histotype, tumor grade, IHC results, and other pathological details were taken from original pathological reports. Results The correlation analysis of 80 patients with hysterectomy specimens between NGS molecular classification and clinicopathological characters displayed that the POLE mut group was associated with EEC (87.5%) and TP53 abn subtype was correlated to a later stage (Stage II–IV, 47.6%), G3 (76.2%), serous histology (61.9%) and myometrial invasion ≥50% (47.6%). A favorable concordance (31/32, 96.9%) was shown in MSI analysis and MMR IHC results, and the agreement rate of p53 IHC and TP53 mutation was 81.5% (53/65). Compared with the p53 IHC abnormal group, the TP53 mutation group had a higher correlation with high‐risk factors. A high level of concordance (31/35, 88.0%) of NGS molecular classification was achieved between curettage specimens and hysterectomy specimens while grade and histotype (including unclassified group) from curettage specimens and hysterectomy specimens showed only moderate levels of agreement, 54.3% (19/35) and 68.6% (24/35), respectively. Conclusion NGS molecular classification achieved on curettage samples showed high concordance with the final hysterectomy specimens, demonstrating superior to the conventional pathological assessment of grade and histotype and potential utilization in clinical practice.https://doi.org/10.1002/cam4.5363curettageendometrial cancerhysterectomymolecular classificationNGS
spellingShingle Qunxian Rao
Jianwei Liao
Yangyang Li
Xin Zhang
Guocai Xu
Changbin Zhu
Shengya Tian
Qiuhong Chen
Hui Zhou
Bingzhong Zhang
Application of NGS molecular classification in the diagnosis of endometrial carcinoma: A supplement to traditional pathological diagnosis
Cancer Medicine
curettage
endometrial cancer
hysterectomy
molecular classification
NGS
title Application of NGS molecular classification in the diagnosis of endometrial carcinoma: A supplement to traditional pathological diagnosis
title_full Application of NGS molecular classification in the diagnosis of endometrial carcinoma: A supplement to traditional pathological diagnosis
title_fullStr Application of NGS molecular classification in the diagnosis of endometrial carcinoma: A supplement to traditional pathological diagnosis
title_full_unstemmed Application of NGS molecular classification in the diagnosis of endometrial carcinoma: A supplement to traditional pathological diagnosis
title_short Application of NGS molecular classification in the diagnosis of endometrial carcinoma: A supplement to traditional pathological diagnosis
title_sort application of ngs molecular classification in the diagnosis of endometrial carcinoma a supplement to traditional pathological diagnosis
topic curettage
endometrial cancer
hysterectomy
molecular classification
NGS
url https://doi.org/10.1002/cam4.5363
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