Hereditary nonpolyposis colorectal cancer screening: Difference between revisions
No edit summary |
No edit summary |
||
| Line 47: | Line 47: | ||
==Annual screening== | ==Annual screening== | ||
According to Screening Program for HNPCC Patients there is sufficient evidence to recommend routine screening for HNPCC-related cancers.<ref name="pmid17327285">{{cite journal |vauthors=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 |title=Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer) |journal=J. Med. Genet. |volume=44 |issue=6 |pages=353–62 |year=2007 |pmid=17327285 |pmc=2740877 |doi=10.1136/jmg.2007.048991 |url=}}</ref> | According to Screening Program for HNPCC Patients there is sufficient evidence to recommend routine screening for HNPCC-related cancers.<ref name="pmid17327285">{{cite journal |vauthors=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 |title=Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer) |journal=J. Med. Genet. |volume=44 |issue=6 |pages=353–62 |year=2007 |pmid=17327285 |pmc=2740877 |doi=10.1136/jmg.2007.048991 |url=}}</ref><ref name="pmid17003399">{{cite journal |vauthors=Lindor NM, Petersen GM, Hadley DW, Kinney AY, Miesfeldt S, Lu KH, Lynch P, Burke W, Press N |title=Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review |journal=JAMA |volume=296 |issue=12 |pages=1507–17 |year=2006 |pmid=17003399 |doi=10.1001/jama.296.12.1507 |url=}}</ref> | ||
Recommended annual screening for patients with HNPCC (age 25 onwards or beginning no later than 5 years before the lowest age of onset in family) should include:<ref name="pmid17003399">{{cite journal |vauthors=Lindor NM, Petersen GM, Hadley DW, Kinney AY, Miesfeldt S, Lu KH, Lynch P, Burke W, Press N |title=Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review |journal=JAMA |volume=296 |issue=12 |pages=1507–17 |year=2006 |pmid=17003399 |doi=10.1001/jama.296.12.1507 |url=}}</ref> | |||
* Physical examination | * Physical examination | ||
| Line 57: | Line 57: | ||
* Full colonoscopy | * Full colonoscopy | ||
* | * Upper gastrointestinal endoscopy (age 35 onwards) | ||
* Gynecological examination including transvaginal ultrasound | * Gynecological examination including transvaginal ultrasound | ||
* Endometrial pipelle biopsy (age 35 onwards) | * Endometrial pipelle biopsy (age 35 onwards) | ||
* Skin surveillance | |||
* Urinalysis | |||
==References== | ==References== | ||
Revision as of 19:00, 1 December 2015
|
Hereditary Nonpolyposis Colorectal Cancer Microchapters |
|
Differentiating Hereditary Nonpolyposis Colorectal Cancer from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Hereditary nonpolyposis colorectal cancer screening On the Web |
|
American Roentgen Ray Society Images of Hereditary nonpolyposis colorectal cancer screening |
|
Hereditary nonpolyposis colorectal cancer screening in the news |
|
Blogs on Hereditary nonpolyposis colorectal cancer screening |
|
Directions to Hospitals Treating Hereditary nonpolyposis colorectal cancer |
|
Risk calculators and risk factors for Hereditary nonpolyposis colorectal cancer screening |
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 Amsterdam criteria, screening for HNPCC by genetic testing is recommended among patients with family history or a confirmed diagnosis of colorectal cancer under age 50 years.[1]
Screening
Genetic testing for mutations in DNA mismatch repair genes is expensive and time-consuming, so researchers have proposed techniques for identifying cancer patients who are most likely to be HNPCC carriers as ideal candidates for genetic testing. The Amsterdam Criteria are useful, but do not identify up to 30% of potential Lynch syndrome carriers. In colon cancer patients, pathologists can measure microsatellite instability in colon tumor specimens, which is a surrogate marker for DNA mismatch repair gene dysfunction.
If there is microsatellite instability identified, there is a higher likelihood for a Lynch syndrome diagnosis. Recently, researchers combined microsatellite instability (MSI) profiling and immunohistochemistry testing for DNA mismatch repair gene expression and identified an extra 32% of Lynch syndrome carriers who would have been missed on MSI profiling alone. Currently, this combined immunohistochemistry and MSI profiling strategy is the most advanced way of identifying candidates for genetic testing for the Lynch syndrome. Genetic counseling and genetic testing are recommended for families that meet the Amsterdam criteria, preferably before the onset of colon cancer.
Amsterdam criteria
The following are the Amsterdam criteria in identifying high-risk candidates for molecular genetic testing:[1]
Amsterdam Criteria:
- Three or more family members with a confirmed diagnosis of colorectal cancer, one of whom is a first degree (parent, child, 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 HNPCC, and therefore recommend MSI testing.[2]
Revised Bethesda guidelines:
- Colorectal cancer diagnosed in a patient aged <50 years.
- Presence of synchronous, metachronous colorectal or other Lynch syndrome‐related tumours,* regardless of age.
- With MSI‐H phenotype diagnosed in a patient aged <60 years.
- Patient with colorectal cancer and a first‐degree relative with a Lynch syndrome‐related tumour, 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 tumour, regardless of age.
- Lynch syndrome‐related tumours include colorectal, endometrial, stomach, ovarian, pancreas, ureter, renal pelvis, biliary tract and brain tumours, sebaceous gland adenomas and keratoacanthomas, and carcinoma of the small bowel.
Annual screening
According to Screening Program for HNPCC Patients there is sufficient evidence to recommend routine screening for HNPCC-related cancers.[3][4]
Recommended annual screening for patients with HNPCC (age 25 onwards or beginning no later than 5 years before the lowest age of onset in family) should include:[4]
- Physical examination
- Abdominal ultrasound
- Full 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.
- ↑ 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.
- ↑ 4.0 4.1 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.