A 34-year-old woman with multiple uterine fibroids undergoes genetic testing of the tumor tissue. A mutation in the MED12 gene is identified. What percentage of uterine leiomyomas harbor MED12 mutations?
- A 10 to 20 percent
- B 40 to 50 percent
- C 70 to 80 percent ✓
- D 95 to 100 percent
Correct answer: C. 70 to 80 percent
Explanation
MED12 mutations are found in approximately 70 to 80 percent of uterine leiomyomas, making them the most common molecular alteration in fibroids. These are missense mutations in exon 2 that disrupt mediator complex function. The remaining 20 to 30 percent often harbor HMGA2 overexpression or FH deficiency (in hereditary leiomyomatosis).
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.