Table 6.

Recommended Evaluations Following Initial Diagnosis in Individuals with Lynch Syndrome

System/ConcernEvaluationComment
Colorectal cancer Colonoscopy w/removal of precancerous polyps 1Beginning between ages 20 & 25 yrs or 2-5 yrs before earliest CRC diagnosis in family, whichever is earlier
Endometrial cancer Educate females re symptoms of endometrial cancers (e.g., abnormal uterine bleeding, postmenopausal bleeding).Eval of symptoms should incl endometrial biopsy every 1-2 yrs 2
Screening by endometrial biopsy 2Beginning between ages 30 & 35 yrs
Ovarian cancer Educate females re symptoms assoc w/ovarian cancer (e.g., pelvic or abdominal pain, bloating, ↑ abdominal girth, difficulty eating, early satiety, urinary frequency or urgency).Symptoms that persist for several wks & are a change from baseline should prompt eval by physician.
Gastric & duodenal
cancers
  • Consider upper endoscopy exam esp for those w/family history of gastric cancer & those of Asian ancestry.
  • Biopsies should be evaluated for H pylori infections so that appropriate treatment can be given as needed. 3
Beginning at age 40 yrs
Distal small bowel Consider capsule endoscopy & small bowel enterography.In symptomatic persons
Urinary tract cancers
(renal pelvis, ureter,
&/or bladder) 		Consider analysis w/urine cytology to identify microscopic hematuria in those w/family history of urothelial cancer. 4Beginning between ages 30 & 35 yrs
Pancreatic cancer Consider pancreatic cancer screening in carriers w/family history of pancreatic cancer w/alternating EUS &/or MRI/MRCP.Beginning at age 50 yrs 5
Genetic counseling By genetics professionals 6To inform affected persons & their families re nature, MOI, & implications of Lynch syndrome to facilitate medical & personal decision making

CRC = colorectal cancer; EUS = endoscopic ultrasound; MOI = mode of inheritance; MRCP = magnetic resonance cholangiopancreatography

1.

Colonoscopy is recommended rather than flexible sigmoidoscopy because of the predominance of proximal colon cancers in Lynch syndrome.

2.

Studies on the effectiveness of transvaginal ultrasound and endometrial biopsy have not shown them to reduce endometrial cancer mortality. In a systematic review of cost effectiveness of early detection and prevention strategies for endometrial cancer, prophylactic surgery was more effective and less costly than screening with transvaginal ultrasound, CA-125, or endometrial biopsy [Sroczynski et al 2020]. However, in individuals that forgo prophylactic surgery, endometrial cancer surveillance can be performed via endometrial biopsy every 1-2 years [Bercow & Eisenhauer 2019, Gupta et al 2019, NCCN 2020]

3.

Studies have not supported that surveillance for gastric and duodenal cancers improve early detection or outcomes of these cancers, but because the stomach and duodenum are the most common extracolonic non-gynecologic cancer in Lynch syndrome, periodic upper endoscopy exams have been included in guidelines.

4.

There is no clear evidence to support surveillance of urothelial cancers in Lynch syndrome. Surveillance may be considered in selected individuals with a family history of urothelial cancer.

5.

Begin surveillance at 50 years old (or 10 years younger than the earliest exocrine pancreatic cancer diagnosis in the family) for individuals with pancreatic cancer in first- or second-degree relatives from the same side of the family as the identified pathogenic germline variant.

6.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: Lynch Syndrome

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