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

NCT04010487 | Unknown

• 1 other identifier: AM-OMICS2
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

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).

Conditions

Adenomyosis; Endometrial Cancer; Ectopic Endometrial Tissue; Eutopic Endometrium; Genomics; Transcriptomics

Outcome Measures

Primary Outcomes (2)

• Frequencies of somatic driving mutations

  The differences of distributions and frequencies of somatic driving mutations will be compared between eutopic ectopic endometrium, and cancer tissues by whole exome sequencing

  One year

• Frequencies of alteration of RNA expression

  The alteration of RNA expression, including mRNA, miRNA, and lncRNA will be compared between eutopic and ectopic endometrium, and cancer tissues by transcriptome sequencing

  One year

Study Arms (2)

Endometrial carcinoma arising in adenomyosis

Patients pathologically conformed endometrial carcinoma arising in adenomyosis (EC-AIA)

Genetic: whole exome sequencing and RNA-sequencing

Adenomyosis without malignancy

Patients pathologically diagnosed with adenomyosis

Genetic: whole exome sequencing and RNA-sequencing

Interventions

whole exome sequencing and RNA-sequencing GENETIC

The specimens from adenomyosis, endometrial cancer, and eutopic endometrium will be tested by whole exome sequencing and RNA-sequencing

Adenomyosis without malignancy; Endometrial carcinoma arising in adenomyosis

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Study population includes two groups patients (about 22 cases in each group): * Patients pathologically conformed endometrial carcinoma arising in adenomyosis (EC-AIA) * Patients pathologically diagnosed with adenomyosis

You may qualify if:

• 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

You may not qualify if:

• 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.)

Sponsors & Collaborators

• Lei Li: lead

Study Sites (1)

Lei Li

Beijing, Beijing Municipality, 100730, China

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

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.

MeSH Terms

Conditions

Adenomyosis; Endometrial Neoplasms

Interventions

Exome Sequencing; Base Sequence

Condition Hierarchy (Ancestors)

Uterine Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Uterine Neoplasms; Genital Neoplasms, Female; Urogenital Neoplasms; Neoplasms by Site; Neoplasms

Intervention Hierarchy (Ancestors)

Whole Genome Sequencing; Sequence Analysis, DNA; Sequence Analysis; Genetic Techniques; Investigative Techniques; Molecular Structure; Biochemical Phenomena; Chemical Phenomena; Genetic Structures; Genetic Phenomena

Study Officials

• Lei Li, M.D.

  Peking Union Medical College Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Lei Li, M.D.

CONTACT

+8613911988831; lileigh@163.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: July 3, 2019
• First Posted: July 8, 2019
• Study Start: July 16, 2019
• Primary Completion: August 1, 2021
• Study Completion: August 1, 2021
• Last Updated: July 18, 2019

Record last verified: 2019-07

Locations

CN (1)