From the Guidelines
Lynch syndrome does not typically present with specific physical examination findings, and diagnosis primarily relies on genetic testing, family history, and the presence of associated cancers. When examining a patient with suspected Lynch syndrome, clinicians should focus on careful review of systems and physical examination to elicit any unexplained signs or symptoms, such as abdominal pain, unexpected vaginal bleeding, skin lesions, or adenopathy, that merit further evaluation 1. Some key points to consider during the physical exam include:
- Signs of colorectal cancer, such as rectal bleeding, abdominal masses, or hepatomegaly suggesting metastasis
- Signs of endometrial cancer, such as abnormal vaginal bleeding
- Skin lesions, such as café-au-lait spots or sebaceous adenomas, which may be present in some patients, particularly those with the Muir-Torre variant
- Adenopathy or other signs of cancer metastasis It is essential to note that the absence of physical findings does not rule out Lynch syndrome, as most carriers appear physically normal until cancer develops 1. Genetic counseling and testing for mismatch repair gene mutations are crucial for definitive diagnosis, allowing for enhanced cancer surveillance protocols that can significantly reduce mortality. Regular general examinations, starting from young adult years, are recommended for individuals with confirmed or suspected mismatch repair gene mutations or their at-risk relatives, with a focus on updating education on Lynch syndrome risk management 1.
From the Research
Physical Exam Findings in Lynch Syndrome
There are no specific physical exam findings that are unique to Lynch syndrome. However, the following points can be considered:
- Patients with Lynch syndrome are at a higher risk of developing certain types of cancer, including colorectal, endometrial, ovarian, gastric, urinary tract, small bowel, biliary tract, and brain tumors 2, 3, 4.
- Women with Lynch syndrome have a high lifetime risk of endometrial and ovarian cancer, with a median age of diagnosis of 49 for endometrial cancer 5, 6.
- Endometrial cancers in women with Lynch syndrome are primarily endometrioid, but can also include non-endometrioid subtypes such as clear cell, papillary serous, and MMMT 6.
- Ovarian cancers in women with Lynch syndrome exhibit a variety of histopathological subtypes 6.
Surveillance and Prevention
The following points can be considered for surveillance and prevention:
- Regular surveillance for colorectal and endometrial cancer is recommended for patients with Lynch syndrome 2, 3, 4.
- Screening for other tumors, such as ovarian and gastric cancer, may also be recommended, although the effectiveness of these screenings is limited 2, 3.
- Prophylactic surgery, such as hysterectomy and bilateral salpingo-oophorectomy, may be considered for prevention of endometrial and ovarian cancer in women with Lynch syndrome 5, 6.
- Chemoprevention, such as the use of oral contraceptives, may also be considered for prevention of endometrial and ovarian cancer in women with Lynch syndrome 6.