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Management

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Primary goals include cancer risk reduction, surveillance, and early intervention.

First Steps After Confirming Diagnosis

  1. Patient education on Lynch and their specific mutation.
  2. Establish a screening protocol for the patient to follow. Perform initial screens as indicated.
    • Colonoscopy starting at age 20-25 years, or 10 years prior to earliest family diagnosis, whichever is earlier
    • Esophagogastroduodenoscopy (EGD) starting at age 30 years
    • Urine cytology with or without urinalysis starting at age 30-35 years
    • Consider endometrial sampling and/or concurrent transvaginal ultrasound
    • Consider prophylactic hysterectomy and bilateral salpingo-oophrectomy if childbearing is completed

Diet, Exercise, and Lifestyle Interventions

Diet

Consider low fat, high fiber diet with minimal red meat

Exercise/Athletic activities

Regular physical exercise has been shown to lower the risk for sporadic cancers, and may lower risk in individuals with Lynch syndrome.

Family planning

Women may wish to complete child bearing earlier in life. 2-3% of women with Lynch syndrome will develop ovarian cancer before the age of 35. Prophylactic hysterectomy with bilateral salpingo-oophorectomy (TAH-BSO) after childbearing is completed can dramatically reduce endometrial and ovarian cancer risk.

Longitudinal Care

Follow-up Testing/Screening/Monitoring

Body System

Recommendations

Colon

Colonoscopy every 1-2 years starting at 20-25 years of age

Gastric/Small Bowel

Upper endoscopy (EGD) age 30-35, every 2-3 years with “extended duodenoscopy”

Gynecologic

Educate about endometrial and ovarian cancer symptomsConsider prophylactic TAH-BSO by age 40/when childbearing complete

Urinary/Renal

Consider urine cytology with or without annual urinalysis starting at age 30

Care Team Members

Required

  • Genetic counselor and/or Geneticist
  • Gastroenterologist

Optional

  • Oncologist
  • Gynecologist
  • Urologist
  • Social work/Psychology

Physical/Occupational/Speech/Developmental Therapies

Not applicable to this condition

Psychology/Counseling

Genetic testing and receiving a genetic diagnosis both may have psychosocial implications. Counseling may be indicated for:

  • Residual uncertainty and pre- and post-test anxiety
  • Understanding of and coping with increased risk
  • Family communication patterns, privacy, and the right “not to know”
  • Survivor guilt, parental guilt, and shame
  • Unresolved grief
  • Infertility due to cancer treatments or hysterectomy
  • Consequences of and adaption to prophylactic surgery

Medications

No prohibitions on medications.  See Other Interventions for information on chemoprevention.

Surgery and/or Procedures

  • Colonoscopy every 1-2 years with removal of precancerous adenomatous polyps
  • When colon cancer has been detected, full colectomy with ileorectal anastomosis (IRA) is usually performed because of the high risk of synchronous or metachronous cancers.
  • Prophylactic total abdominal hysterectomy with bilateral salpingo-oophorectomy (TAH-BSO) after childbearing is complete or by 40 years of age.

Other Interventions

 The following chemoprevention is being investigated:

  • Oral contraceptives – endometrial and ovarian cancer prevention
  • COX-2 inhibitors – colon cancer prevention
  • NSAIDs – polyp prevention

Treatments and Interventions to Avoid

  •  Flexible sigmoidoscopy is likely to miss proximal colon cancers common in Lynch syndrome.
  • Prophylactic colectomy prior to the development of cancer is generally NOT recommended due to the effectiveness of colonoscopy screening and polyp removal.
  • Segmental/partial colonic resection leaves risk for metachronous cancers

Reproductive Implications

Diagnosis may profoundly impact child-bearing decisions.  Discussions should include natural vs. assisted conception and predictive genetic testing. (See Genetic Risk Assessment for information on risks for offspring).

Effect of the condition on fertility

N/A

Effect of the condition on pregnancy, delivery and/or the post-partum period

None known

Effect of pregnancy on manifestations of the condition

None known

Prognosis

General
Population Risk

Lynch Syndrome Risk

Mean Age of Onset in Lynch Syndrome

Colon

5-6%

80%

44

Endometrium

2-3%

20-60%

46

Stomach

<1%

11-19%

56

Ovary

1-2%

9-12%

42.5

Hepatobiliary Tract

<1%

2-7%

Unknown

Urinary Tract

<1%

4-5%

55

Small Bowel

<1%

1-4%

49

Brain/CNS

<1%

1-3%

50

NOTE: Not all individuals with Lynch syndrome will develop cancer

Factors affecting disease expression

None known

Effect on longevity/lifespan

  • Lynch syndrome cancers tend to occur at an earlier age than sporadic cancers.
  • Both colon and endometrial Lynch syndrome cancers are associated with fewer metastases and better survival rates than sporadic cancers.

Effect on function and quality of life

Quality of life and function may be influenced by:

  • Burden of frequent screening
  • Impact of cancer, treatments, and prophylactic hysterectomy/oophorectomy on family planning and fertility
  • Higher risk of cancer recurrence or multiple primary tumors throughout the lifetime

Expected response to therapy

There are no data on Lynch syndrome outcomes reflecting recent advances in colonoscopy and other improvements in Lynch syndrome patient care. 

How do genetic test results alter prognosis?

  • Patients diagnosed with a Lynch syndrome gene mutation are at increased risk for cancer.
  • Patients who test negative for a known family mutation are at the same risk for cancer as the general population.
  • A negative result may be uninformative if there is no known family mutation. The patient may still be at increased risk for a cancer-predisposing syndrome and consultation with genetics is advised.

Presymptomatic or Asymptomatic Patients

  •  Follow Lynch syndrome screening guidelines
  • Prophylactic total abdominal hysterectomy with bilateral salpingo-oophorectomy (TAH-BSO) after childbearing is completed, or by age 40, can dramatically reduce the risk for endometrial and ovarian cancer.
  • Prophylactic colectomy prior to the development of cancer is generally NOT recommended due to the effectiveness of colonoscopy screening and polyp removal.

Consensus Statements and Guidelines

Amsterdam II Criteria

Vasen HF, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116:1453–6. 

Bethesda Guidelines

Umar A, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96:261–8

Clinical practice guidelines in oncology: colorectal cancer screening

NCCN Clinical Practice Guidelines in Oncology (2011). Colorectal Cancer Screening V.2.2011 Accessed June 15, 2012. NOTE: Free registration and login are required to view guidelines. Scroll down to Guidelines for Detection, Prevention, & Risk Reduction, click on Colorectal Cancer Screening.  

EGAPP Recommendations

EGAPP. 2009. Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genetics in Medicine, 11: 35-41.