Hereditary nonpolyposis colorectal cancer screening
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Maria Fernanda Villarreal, M.D. [2]
Overview
According to the Bethesda guidelines and Amsterdam criteria, screening for hereditary nonpolyposis colorectal cancer by genetic testing is recommended among patients with family history or/and a confirmed diagnosis of colorectal cancer under age 50 years.
Screening
- According to the Bethesda guidelines and Amsterdam criteria, screening for hereditary nonpolyposis colorectal cancer by genetic testing is recommended among patients with family history or/and a confirmed diagnosis of colorectal cancer under age 50 years.[1][2]
- The Amsterdam and Bethesda guidelines are useful for identifying cancer patients who are most likely to be hereditary nonpolyposis colorectal carriers as ideal candidates for genetic testing.
- Genetic testing for mutations in DNA mismatch repair genes is expensive and time-consuming.
- Microsatellite instability can be observed in the majority of patients with colorectal cancer.
- Immunohistochemistry and microsatellite instability profiling strategy is the most advanced way of identifying candidates for genetic testing for the hereditary nonpolyposis colorectal cancer.
- The Amsterdam Criteria I and II identify patients for colonoscopic screening and approximately 40 - 80% of the patients meet these criteria.
- The revised Bethesda criteria are used to identify patients for molecular screening of hereditary nonpolyposis colorectal cancer.
- Approximately 80% of patients are identified using the Bethesda criteria, although the specificity is low.[3][4]
Amsterdam Criteria
The following are the Amsterdam criteria in identifying high-risk candidates for molecular genetic testing:[1]
Amsterdam Criteria I:
- Three or more family members with a confirmed diagnosis of colorectal cancer, one of whom is a first degree (parent, child, or sibling) relative of the other two
- Two successive affected generations
- One or more colon cancers diagnosed under age 50 years
- Familial adenomatous polyposis (FAP) has been excluded
Amsterdam Criteria II:
- Three or more family members with HNPCC-related cancers, one of whom is a first degree relative of the other two
- Two successive affected generations
- One or more of the HNPCC-related cancers diagnosed under age 50 years
- Familial adenomatous polyposis (FAP) has been excluded
Bethesda Guidelines
The revised Bethesda Guidelines are designed for identifying individuals at risk for hereditary nonpolyposis colorectal cancer, and therefore recommend microsatellite instability testing.[5]
Revised Bethesda guidelines:
- Colorectal cancer diagnosed in a patient aged < 50 years
- Presence of synchronous, metachronous colorectal or other Lynch syndrome‐related tumors, regardless of age
- Patient with colorectal cancer and a first‐degree relative with a Lynch syndrome‐related tumor, with one of the cancers diagnosed at age < 50 years
- Patient with colorectal cancer with two or more first‐degree or second‐degree relatives with a Lynch syndrome‐related tumor, regardless of age
- Lynch syndrome‐related tumors include colorectal, endometrial, stomach, ovarian, pancreas, ureter, renal pelvis, biliary tract and brain tumors, sebaceous gland adenomas and keratoacanthomas, and carcinoma of the small bowel
Surveillance
- According to Netherlands Surveillance Protocol for Carriers of an MMR-gene mutation, there is sufficient evidence to recommend routine screening for HNPCC-related cancers.[6][7]
- Recommended annual screening for patients with hereditary nonpolyposis colorectal cancer (age 25 onwards or beginning no later than 5 years before the lowest age of onset in family) should include:[7]
- Physical examination
- Abdominal ultrasound
- Colonoscopy
- Upper gastrointestinal endoscopy (age 35 onwards)
- Gynecological examination including transvaginal ultrasound
- Endometrial pipelle biopsy (age 35 onwards)
- Skin surveillance
- Urinalysis
References
- ↑ 1.0 1.1 Vasen HF, Watson P, Mecklin JP, Lynch HT (Jun 1999). "New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC". Gastroenterology. 116 (6): 1453–6. doi:10.1016/S0016-5085(99)70510-X. PMID 10348829.
- ↑ Hampel H, de la Chapelle A (2011). "The search for unaffected individuals with Lynch syndrome: do the ends justify the means?". Cancer Prev Res (Phila). 4 (1): 1–5. doi:10.1158/1940-6207.CAPR-10-0345. PMC 3076593. PMID 21205737.
- ↑ Lynch syndrome.Ganfyd.http://www.ganfyd.org/index.php?title=Lynch_syndrome Accessed on December 01, 2015
- ↑ Vasen HF, Watson P, Mecklin JP, Lynch HT (1999). "New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC". Gastroenterology. 116 (6): 1453–6. PMID 10348829.
- ↑ Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S (2004). "Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability". J. Natl. Cancer Inst. 96 (4): 261–8. PMC 2933058. PMID 14970275.
- ↑ Vasen HF, Möslein G, Alonso A, Bernstein I, Bertario L, Blanco I, Burn J, Capella G, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Mecklin JP, Møller P, Nagengast F, Parc Y, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Wijnen J (2007). "Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)". J. Med. Genet. 44 (6): 353–62. doi:10.1136/jmg.2007.048991. PMC 2740877. PMID 17327285.
- ↑ 7.0 7.1 Lindor NM, Petersen GM, Hadley DW, Kinney AY, Miesfeldt S, Lu KH, Lynch P, Burke W, Press N (2006). "Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review". JAMA. 296 (12): 1507–17. doi:10.1001/jama.296.12.1507. PMID 17003399.