Abstract 804P
Background
The TCGA classification has a definite guiding and suggestive effect on the treatment and prognosis of endometrial carcinoma. However, TCGA typing is based on the results of multi-omics studies such as gene mutation, gene expression and gene methylation, which is expensive and not suitable for clinical widespread application.
Methods
A cohort of 88 endometrial cancer (EC) patients were enrolled. Targeted NGS of more than 450 gene panel on their tumor tissues (fresh or FFPE) and matched leucocyte controls was carried out by OrigiMed (Shanghai, China), a CAP accredited and CLIA certified laboratory. Subsequently, the molecular typing was established according to POLE mutation, microsatellite status and copy number variation (CNV) in proper order.
Results
The percentages of POLE, MSI-high, CNV-low and CNV-high groups were 6.9% (n=6), 10.3% (n=9), 72.4% (n=63), and 10.3% (n=9), and the mean TMB of them 3.46, 11.80, 60.92 and 177.10 muts/Mb (P<0.001), respectively. Furthermore, there was no significant difference in the diagnostic age among the four groups (P=0.24), and TMB in stage I was significantly higher than that in stage II-IV (P=0.028). Alterations of POLE, TP53, BRCA1/2, TERT, ATM and APC were positively correlated with TMB, and KMT2C and MYC were negatively correlated with TMB (P < 0.05). TP53 mutation was positively correlated with CNV (P=0.012), and was more likely to appear in the elderly (P=0.06). Besides, Most of IV stage were enriched in CNV-low (25%, n=4) and CNV-high groups(68.75%, n=11), and most of I and III stages were enriched in POLE and MSI-high groups.
Conclusions
We firstly constructed four types of EC (POLE, MSI-high, CNV-low and CNV-high) based on targeted NGS, and made clinical suggestions on immunotherapy, clinical stage and age.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
The authors.
Funding
Has not received any funding.
Disclosure
All authors have declared no conflicts of interest.