From the Guidelines
For a 60-year-old patient with Hereditary Nonpolyposis Colorectal Cancer (HNPCC) or Lynch Syndrome, ongoing cancer screening should include colonoscopy every 1 to 2 years, annual gynecological examination, pelvic ultrasound, and aspiration biopsy for women, as well as consideration of upper GI endoscopy every 1 to 3 years for gastric cancer screening. According to the American Society of Clinical Oncology clinical practice guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology clinical practice guidelines 1, colonoscopy is crucial for early detection of colorectal cancer, which has a high risk of development in Lynch Syndrome patients. For women, annual gynecological examination, pelvic ultrasound, and aspiration biopsy are essential for screening of endometrial and ovarian cancers, which are also at elevated risk in Lynch Syndrome patients.
Some key points to consider in the screening protocol include:
- Colonoscopy every 1 to 2 years, starting at age 20 to 25 or 5 years before the youngest case in the family, with no upper limit established 1
- Annual gynecological examination, pelvic ultrasound, and aspiration biopsy for women, starting at age 30 to 35 years 1
- Consideration of upper GI endoscopy every 1 to 3 years for gastric cancer screening, particularly in populations with high incidence of gastric cancer 1
- Consideration of prophylactic hysterectomy and salpingoophorectomy when childbearing is completed for women 1
It's also important to note that while there is an increased risk of other cancers, such as urothelial, central nervous system, and pancreatic cancers, the evidence for screening recommendations is limited, and most recommendations are based on expert opinion rather than evidence-based guidelines 1. However, annual urinalysis starting at 30-35 years and annual physical/neurologic examination starting at 25-30 years may be considered for screening of urothelial and central nervous system cancers, respectively 1.
From the Research
Ongoing Cancer Screening Tests for HNPCC or Lynch Syndrome
For a 60-year-old patient with Hereditary Nonpolyposis Colorectal Cancer (HNPCC) or Lynch Syndrome, the following ongoing cancer screening tests are recommended:
- Colonoscopy every 1 to 2 years, as it is the primary modality for screening for Lynch syndrome 2, 3, 4
- The current surveillance protocol, i.e., bi-annual colonoscopy in first-degree relatives independent of age and endoscopic findings, appears to be appropriate 4
- Annual screening of patients aged 40-60 years may be more effective than bi-annual screening, but more research is needed to confirm this 4
- Surveillance of second-degree relatives may not be indicated, but more research is needed to confirm this 4
Extracolonic Cancer Screening
For extracolonic cancers associated with Lynch syndrome, the following screening tests are recommended:
- Endometrial cancer: transvaginal ultrasound and endometrial sampling to detect tumors in early stages 5, 6
- Urinary tract and gastric cancer: surveillance is generally recommended, especially in families with more than one member with these types of cancer 6
- Other types of cancer: surveillance is typically not recommended, but prophylactic hysterectomy and bilateral salpingo-oophorectomy should be considered for women with Lynch syndrome who are past childbearing age 6
Risk-Reduction Initiatives
The following risk-reduction initiatives are recommended for patients with Lynch syndrome: