Multi-omics Study on the Pathogenesis of Malignant Transformation of Adenomyosis

• Conditions: Adenomyosis; Endometrial Cancer; Ectopic Endometrial Tissue; Transcriptomics; Eutopic Endometrium; Genomics
• Interventions: Genetic: whole exome sequencing and RNA-sequencing

• Registration Number: NCT04010487
• Lead Sponsor: Lei Li

Brief Summary

This study is to explore the driving genes and the molecular mechanism of malignant transformation of adenomyosis. This study acquired the formalin fixed paraffin-embedded (FFPE) tissue of patients pathologically conformed endometrial carcinoma arising in adenomyosis (EC-AIA) treated at Peking Union Medical College Hospital from July 15, 2017 to July 15, 2019. The formalin fixed paraffin-embedded tissues from patients pathologically diagnosed with adenomyosis during this time period were also included as control specimens. The eutopic endometrium, normal adenomyosis tissue, and EC-AIA tissue were harvested from the FFPE tissue from patients with EC-AIA. The normal eutopic endometrium and normal adenomyosis tissue were obtained by laser microdissection. The driving genes and potential molecular mechanism of EC-AIA will be found by the technology of whole exome sequencing and transcriptomics (RNA-sequencing).

Detailed Description

Not available

Study Timeline

• Status Verified: 2019-07
• Study First Submitted: 2019-07-03
• Study First Submitted QC: 2019-07-03
• Study First Posted: 2019-07-08
• Study Start: 2019-07-16
• Last Update Submitted: 2019-07-16
• Last Update Posted: 2019-07-18
• Primary Completion: 2021-08-01
• Study Completion: 2021-08-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: Female
• Target Recruitment: 40

Inclusion Criteria

• Pathological confirmed diagnosis with atypical hyperplasia and malignant transformation of adenomyosis glandular epithelium (including endometrioid, serous and clear cell carcinoma), with or without concurrent endometrial carcinoma
• Signed an approved informed consents

Exclusion Criteria

• Not meeting all the inclusion criteria.
• The formalin fixed paraffin-embedded (FFPE) tissue was not acquired at the required time period.
• The patients enrolled had accompanied some other kinds of carcinoma (such as ovarian cancer, cervical cancer, primary peritoneal cancer).
• Patients had cancer history of certain organ (such as colorectal cancer, gastric cancer, etc.)

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Endometrial carcinoma arising in adenomyosis	whole exome sequencing and RNA-sequencing	Patients pathologically conformed endometrial carcinoma arising in adenomyosis (EC-AIA)
Adenomyosis without malignancy	whole exome sequencing and RNA-sequencing	Patients pathologically diagnosed with adenomyosis

Primary Outcome Measures

Name	Time	Method
Frequencies of somatic driving mutations	One year	The differences of distributions and frequencies of somatic driving mutations will be compared between eutopic ectopic endometrium, and cancer tissues by whole exome sequencing
Frequencies of alteration of RNA expression	One year	The alteration of RNA expression, including mRNA, miRNA, and lncRNA will be compared between eutopic and ectopic endometrium, and cancer tissues by transcriptome sequencing

Trial Locations

Locations (1)

Lei Li; 🇨🇳 Beijing, Beijing, China