The value of MRS in screening of fumarate hydratase-deficient uterine leiomyoma

Motivation: Fumarate hydratase-deficient uterine leiomyoma (FH-dUL) is often misdiagnosed due to its similarity to typical leiomyoma. Current diagnostic methods are costly and unreliable. Goal(s): This study aimed to explore magnetic resonance spectroscopy (MRS) as a non-invasive tool to improve FH-dUL detection. Approach: Optimizing MRS parameters and evaluating their performance by comparing them with conventional imaging in FH-dUL diagnosis. Results: MRS achieved 94.2% sensitivity and 98.3% accuracy, demonstrating its potential as an effective diagnostic tool for FH-dUL and FH deficiency. Impact: This study explored the potential of MR spectroscopy (MRS) for diagnosing FH-deficient leiomyomas, a noninvasive imaging modality that could allow early diagnosis and improve surveillance of this condition.