Evidence map›Paper›PMID 37730563›Full record

ArticleBMC cancer2023

Genomic profile of Chinese patients with endometrial carcinoma.

Jin Li, Xiaoqi Li, Chenlian Quan, Xiaoqiu Li, Chong Wan, Xiaohua Wu

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC cancer, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.9field-weighted citation impact, top 24% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 6 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 1 country.

Jin LiDepartment of Gynecologic Oncology, Fudan University Shanghai Cancer Center, Fudan University, 200032, Shanghai, China.
Xiaoqi LiDepartment of Gynecologic Oncology, Fudan University Shanghai Cancer Center, Fudan University, 200032, Shanghai, China.
Chenlian QuanDepartment of Gynecologic Oncology, Fudan University Shanghai Cancer Center, Fudan University, 200032, Shanghai, China.
Xiaoqiu LiDepartment of Pathology, Fudan University Shanghai Cancer Center, Fudan University, 200032, Shanghai, China.
Chong WanPrecision Medicine Center, Yangtze Delta Region Institute of Tsinghua University, Jiaxing, China.
Xiaohua WuDepartment of Gynecologic Oncology, Fudan University Shanghai Cancer Center, Fudan University, 200032, Shanghai, China. wu.xh@fudan.edu.cn.
Fudan University Shanghai Cancer Center · CNShanghai Medical College of Fudan University · CNTsinghua University · CN

Funding

Shanghai Key Clinical Specialty Project 2019 LCZD-NXZL Shanghai Municipal Health Commission
6 · The paper itself

Abstract

backgroundsEndometrial carcinoma (EC) is one of the most commonly diagnosed gynecologic malignancy in China. However, the genetic profile of Chinese EC patients has not been well established yet.

methodsIn current study, 158 Chinese EC patients were subjected to next-generation sequencing assay (74 took testing of EC-related 20-genes panel, and 84 took the expanded panel). Of the 158 patients, 91 patients were performed germline mutation testing using the expanded panel. Moreover, the public datasets from TCGA and MSKCC were utilized to compare the genomic differences between Chinese and Western EC patients. The proteomic and transcriptomic from CPTAC and TCGA were derived and performed unsupervised clustering to identify molecular subtypes.

resultsAmong the 158 patients analyzed, a significant majority (85.4%) exihibited at least one somatic alteration, with the most prevalent alterations occurring in PTEN, PIK3CA, TP53, and ARID1A. These genomic alterations were mainly enriched in the PI3K, cell cycle, RAS/RAF/MAPK, Epigenetic modifiers/Chromatin remodelers, and DNA damage repair (DDR) signaling pathways. Additionally, we identified ten individuals (11.0%) with pathogenic or likely pathogenic germline alterations in seven genes, with the DDR pathway being predominantly involved. Compared to Western EC patients, Chinese EC patients displayed different prevalence in AKT1, MET, PMS2, PIK3R1, and CTCF. Notably, 69.6% of Chinese EC patients were identified with actionable alterations. In addition, we discovered novel molecular subtypes in ARID1A wild-type patients, characterized by an inferior prognosis, higher TP53 but fewer PTEN and PIK3CA alterations. Additionally, this subtype exhibited a significantly higher abundance of macrophages and activated dendritic cells.

conclusionOur study has contributed valuable insights into the unique germline and somatic genomic profiles of Chinese EC patients, enhancing our understanding of their biological characteristics and potential therapeutic avenues. Furthermore, we have highlighted the presence of molecular heterogeneity in ARID1A-wild type EC patients, shedding light on the complexity of this subgroup.

Indexed as

East Asian PeopleEndometrial NeoplasmsGenetic ProfileFemaleHumansProteomicsARID1ADNA damage repairEndometrial carcinomaGenomic alterationsGenomic profileSomatic alterations

Identifiers

PMID37730563
PMCPMC10512642
OpenAlexW4386889249

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.