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

Study Overview
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Brief Summary
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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).

Official Title
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A Multi-omics Study on the Pathogenesis of Malignant Transformation of Adenomyosis

Conditions
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Adenomyosis, Endometrial Cancer, Ectopic Endometrial Tissue, Eutopic Endometrium, Genomics, Transcriptomics

Intervention / Treatment
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* Genetic: whole exome sequencing and RNA-sequencing


Participation Criteria
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Eligibility Criteria
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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.)

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Endometrial carcinoma arising in adenomyosis<br>Patients pathologically conformed endometrial carcinoma arising in adenomyosis (EC-AIA) | Genetic: whole exome sequencing and RNA-sequencing<br>* The specimens from adenomyosis, endometrial cancer, and eutopic endometrium will be tested by whole exome sequencing and RNA-sequencing<br>|
| Adenomyosis without malignancy<br>Patients pathologically diagnosed with adenomyosis | Genetic: whole exome sequencing and RNA-sequencing<br>* The specimens from adenomyosis, endometrial cancer, and eutopic endometrium will be tested by whole exome sequencing and RNA-sequencing<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 |