A 45-year-old nulliparous woman is diagnosed with Cowden syndrome (PTEN hamartoma tumour syndrome). She is counsened about her lifetime risk of endometrial carcinoma. What is the approximate lifetime risk of endometrial cancer in women with Cowden syndrome?
- A 2-5%
- B 10-20%
- C 25-30% ✓
- D 50-60%
Correct answer: C. 25-30%
Explanation
Cowden syndrome, caused by germline PTEN mutations, carries a lifetime endometrial cancer risk of approximately 25-30%, comparable to the risk of breast cancer in these patients. This is distinct from Lynch syndrome where the lifetime risk is 40-60%. Risk-reducing hysterectomy may be discussed after completion of family. The 2-5% figure is the population lifetime risk. The 50-60% figure approximates Lynch syndrome risk.
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.