Mutation Profiling of Uterine Lavage Fluid: Detection of Early Stage Endometrial Cancers and an Unexplored Landscape of Driver Mutations in Women “without Cancer”
Dr. John Martignetti
Monday, December 5, 2016
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Chapters
Introduction
DISCLOSURE
Endometrial Cancer
Symptoms
Why OR-based hysteroscopy?
Endometrial Carcinoma Classification
Endometrial Carcinoma Classification: Tumor Cell Type
Endometrial Carcinoma Classification: Tumor Cell Type and Grade
Endometrial Cancer: Decision Points
Outliers: PT361: Type I
TCGA established that endometrial tumors
the classical pathologic distinction
Can one develop a molecular diagnostic
Development of molecular diagnostics
Summary of validation tests
Can we use a molecular diagnostic to detect endometrial cancer ?
Study Flowchart
Prospective Study
Prospective Study: Women from the general population
Genes represented in the 56g
Custom endometrial tumor oncology 12-gene panel
Seven endometrial cancers are diagnosed by tissue-based histopathology
Microscopic views of the seven uterine cancers diagnosed by classical histopathology
Cancer driver mutations were identified in lavage washings from all seven endometrial cancer cases
Lavage fluid mutations are represented in their paired tumors…
What of the other women in the study?
half of all women – 51 / 102
Allele frequency range: 1% to 30% - average: 3%
Two representative cases of women with histopathologic evidence of cancer
Validation assessment of NGS-identified mutations by two orthogonal methodologies
All NGS-identified variants were validated
Age and menopausal status are associated with presence of driver or potential driver mutations in all women
PERSPECTIVE ON THE PROBLEM / POWER
Conclusions and Future Work
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