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She/Her/Hers
Job Title
OB/GYN POI Research Trainee
Academic Rank
Staff/Research Assistant
Department
Obstetrics and Gynecology
Authors
Pooja Prasad
Principal Investigator
Dr. Cynthia Morton
Categories
Tags
Uterine leiomyomas (UF, or fibroids) are a leading cause of morbidity amongst reproductive age women. There is a high prevalence of fibroids within this age group, and early detection of uterine leiomyosarcoma (ULMS) is crucial for reduction in mortality. Most ULMS are diagnosed at the time of fibroid surgery, as a reliable pre-treatment diagnostic tool does not exist. This study is producing a body of evidence to support development of a non-invasive pre-treatment diagnostic for UF and ULMS. We hypothesize that in women with fibroids, shed UF cells in peripheral blood can be utilized to detect the presence of somatic variants in the MED12 gene, which are highly present in UF. Thus far the study has collected fibroid and peripheral blood samples from 19 cases. MED12 exon 2, the site of variation, has been confirmed via PCR amplification in a portion of these cases; variants will be confirmed via Sanger sequencing. Variant-confirmed patients’ peripheral blood plasma will be sent for deep sequencing to confirm that somatic variants in MED12 can also be detected through this route. Our study is setting a foundation for using routine peripheral blood draws to detect UF and ULMS.
Uterine leiomyomas (UF, or fibroids) are a leading cause of morbidity amongst reproductive age women. There is a high prevalence of fibroids within this age group, and early detection of uterine leiomyosarcoma (ULMS) is crucial for reduction in mortality. Presently, most ULMS are diagnosed at the time of fibroid surgery, as a reliable pre-treatment diagnostic tool does not exist. This study is producing a body of evidence to support development of a non-invasive pre-treatment diagnostic for UF and ULMS. We hypothesize that in women with fibroids, shed UF cells in routine blood draw samples can be utilized to detect the presence of mutations in the MED12 gene, which are highly present in UF. Our study has confirmed the presence of the MED12 mutation site in fibroid tissue from a portion of study participants; the specific mutations in this location will be confirmed via further sequencing. Next, patients with MED12 mutations confirmed in their fibroids will have the plasma from their blood draw sequenced to confirm the same MED12 mutations can be detected through the blood plasma route. Our study is setting a foundation for using routine blood draws to detect UF and ULMS, a largely unexplored method.
