What is the recommended frequency for endometrial biopsy in individuals with Lynch syndrome (Hereditary Nonpolyposis Colorectal Cancer)?

From the Guidelines

For individuals with Lynch syndrome, endometrial biopsy is recommended every 1-2 years starting at age 30-35. This screening approach is part of a comprehensive gynecologic surveillance program aimed at early detection of endometrial cancer, which occurs at significantly higher rates in Lynch syndrome carriers 1. The procedure involves taking a small tissue sample from the uterine lining to examine for precancerous or cancerous changes.

• Key points to consider:
  • Endometrial biopsy is highly sensitive and highly specific as a diagnostic procedure 1
  • Screening via endometrial biopsy every 1–2 years starting at age 30–35 can be considered 1
  • Transvaginal ultrasound to screen for endometrial cancer in postmenopausal patients has not been shown to be sufficiently sensitive or specific, but may be considered at the clinician’s discretion 1
  • Risk-reducing hysterectomy after childbearing is complete is considered the most effective preventive strategy for Lynch syndrome carriers, as it eliminates the risk of endometrial cancer entirely 1
• It's also important to note that the timing of total hysterectomy can be individualized based on whether childbearing is complete, comorbidities, family history, and LS gene, as risks for endometrial cancer vary by LS gene 1.
• Given the higher risks of endometrial and ovarian cancer in certain LS genes, such as MSH6, hysterectomy with opportunistic bilateral salpingectomy may be considered starting at age 40, with delayed bilateral oophorectomy starting at age 50 1.
• Estrogen replacement therapy should be considered to mitigate the detriments to bone health, cardiovascular health, and generalized quality of life caused by premature menopause due to oophorectomy 1.

From the Research

Screening Recommendations for Endometrial Cancer in Lynch Syndrome

• The lifetime cumulative risk of endometrial cancer for women with Lynch syndrome is 40% to 60% 2
• Current gynecologic cancer screening guidelines for women with Lynch syndrome include annual endometrial sampling and transvaginal ultrasonography beginning at age 30 to 35 years 2
• A systematic review of screening methods for endometrial and ovarian cancer in Lynch syndrome found that the sensitivity of endometrial biopsy was 57.1% and the number needed to screen was 23-380 (median 78) 3
• The effectiveness of endometrial biopsy and transvaginal ultrasound for clinical monitoring of asymptomatic women with Lynch syndrome is uncertain 4

Frequency of Endometrial Biopsy

• Annual endometrial sampling is recommended for women with Lynch syndrome starting at age 30 to 35 years 2
• The frequency of endometrial biopsy may vary depending on individual risk factors and medical history, but there is no clear consensus on the optimal frequency 3, 4, 5

Alternative Screening Methods

• Transvaginal ultrasonography is also recommended as part of the screening guidelines for women with Lynch syndrome 2
• The sensitivity of transvaginal ultrasound was 34.4% and the number needed to screen was 35-973 (median 170) 3
• Other screening methods, such as serum cancer antigen 125 (CA-125), may also be used, but their effectiveness is uncertain 3

Prevention Strategies

• Prophylactic surgery, including hysterectomy and bilateral salpingo-oophorectomy, is an effective strategy for preventing endometrial and ovarian cancer in women with Lynch syndrome 6
• Chemoprophylaxis using exogenous progestin or aspirin may also be considered as a preventive measure 4, 5