Investigators: Serdar E. Bulun, MD; Ping Yin, MD, PhD;
Institution: Northwestern University Feinberg School of Medicine
Clinical Challenge
- Uterine smooth muscle tumors include both benign fibroids and malignant leiomyosarcomas, which often present similar symptoms despite vastly different outcomes.
- Limited understanding of the molecular drivers of tumor growth has slowed the development of accurate diagnostics and targeted, non-surgical therapies.
Innovation
- This project focuses on MED12 mutations, the most common genetic alteration in uterine fibroids and a key feature of a subset of leiomyosarcomas.
- The investigators have uncovered a novel link between MED12 mutations and activation of thyroid hormone signaling via DIO2, revealing a previously unrecognized pathway that may drive tumor cell survival, proliferation, and growth.
Impact
- Identify a clinically actionable pathway linking MED12 mutations to tumor growth
- Establish thyroid hormone signaling as a potential precision-medicine target
- Inform clinical decision-making around thyroid hormone (T4) use in women with MED12-mutant tumors.
- Lay the groundwork for non-surgical, subtype-specific therapies.
- Generate critical preliminary data for an NIH R01 submission.
Partnering with DFF
- This project presents an opportunity for strategic investment in discovery science with direct clinical relevance. By clarifying how a common genetic mutation intersects with a widely prescribed hormone therapy, DFF has the opportunity to help accelerate precision medicine approaches that could improve outcomes for millions of women.
