Mutation and Expression Analysis of MUC Gene Family to Define Atypical Leiomyoma as A Precursor Lesion of Uterine Leiomyosarcoma

Project: Research project

Project Details


Atypical leiomyoma (ALM) is a tumor variant of uterine smooth muscle tumors with atypical histology that is similar to that of uterine leiomyosarcoma (LMS). ALM can recur and occasionally metastasize after surgical treatment. This raises the question of whether ALM is an independent intermediate grade tumor or a precursor lesion of leiomyosarcoma (LMS). Since LMS is a deadly disease for which early detection is critical, it is important to accurately characterize and understand the relationship between ALM and LMS. We recently conducted a global gene mutation analysis via next generation sequencing (NGS) in 15 LMS and discovered that almost all LMS harbor specific gene mutations in the MUC gene family. In this study, we will investigate and examine MUC gene mutations in ALM, LMS and benign leiomyoma. We hypothesize that MUC gene mutations specific to LMS may be present in ALM and may serve as an early genetic event necessary for LMS development. To achieve our objectives, we will conduct a gene mutation analysis in our selected cohort of ALM, LMS and normal controls. Our goal is to identify the differences and similarities between ALM and LMS by mapping the MUC gene mutation patterns. The results generated from this study may be invaluable towards understanding the tumorigenic role of MUC genes in LMS progression. Our findings will also assist in developing biomarkers for clinical application. An IRB approval has been obtained for this study.
Effective start/end date9/1/178/31/19


  • Northwestern Memorial Hospital (Agmt 11 Exhibit B21)


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