Hereditary nonpolyposis colorectal cancer screening: Difference between revisions

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==Overview==
==Overview==
According to the Bethesda guidelines and Amsterdam criteria, screening for HNPCC by genetic testing is recommended among patients with family history or/and a confirmed diagnosis of [[colorectal cancer]] under age 50 years.<ref name="screen">{{cite journal | vauthors = Vasen HF, Watson P, Mecklin JP, Lynch HT | title = New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC | journal = Gastroenterology | volume = 116 | issue = 6 | pages = 1453–6 | date = Jun 1999 | pmid = 10348829 | doi = 10.1016/S0016-5085(99)70510-X }}</ref><ref name="pmid21205737">{{cite journal |vauthors=Hampel H, de la Chapelle A |title=The search for unaffected individuals with Lynch syndrome: do the ends justify the means? |journal=Cancer Prev Res (Phila) |volume=4 |issue=1 |pages=1–5 |year=2011 |pmid=21205737 |pmc=3076593 |doi=10.1158/1940-6207.CAPR-10-0345 |url=}}</ref>
According to the Bethesda guidelines and Amsterdam criteria, [[Screening (medicine)|screening]] for hereditary nonpolyposis colorectal cancer by [[genetic testing]] is recommended among [[Patient|patients]] with [[family history]] or/and a confirmed [[diagnosis]] of [[colorectal cancer]] under age 50 years.


==Screening==
==Screening==
*According to the Bethesda guidelines and Amsterdam criteria, [[screening]] for hereditary nonpolyposis colorectal cancer by [[genetic testing]] is recommended among [[Patient|patients]] with [[family history]] or/and a confirmed [[diagnosis]] of [[colorectal cancer]] under age 50 years.<ref name="screen">{{cite journal | vauthors = Vasen HF, Watson P, Mecklin JP, Lynch HT | title = New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC | journal = Gastroenterology | volume = 116 | issue = 6 | pages = 1453–6 | date = Jun 1999 | pmid = 10348829 | doi = 10.1016/S0016-5085(99)70510-X }}</ref><ref name="pmid21205737">{{cite journal |vauthors=Hampel H, de la Chapelle A |title=The search for unaffected individuals with Lynch syndrome: do the ends justify the means? |journal=Cancer Prev Res (Phila) |volume=4 |issue=1 |pages=1–5 |year=2011 |pmid=21205737 |pmc=3076593 |doi=10.1158/1940-6207.CAPR-10-0345 |url=}}</ref>
*The Amsterdam and Bethesda guidelines are useful for identifying [[cancer]] [[Patient|patients]] who are most likely to be hereditary nonpolyposis colorectal carriers as ideal candidates for [[genetic testing]].
*[[Genetic testing]] for [[Mutation|mutations]] in [[DNA mismatch repair]] [[Gene|genes]] is expensive and time-consuming.
*[[Microsatellite instability]] can be observed in the majority of [[Patient|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 [[Colonoscopy|colonoscopic]] [[screening]] and approximately 40 - 80% of the [[Patient|patients]] meet these criteria.
*The revised Bethesda criteria are used to identify [[Patient|patients]] for [[Molecule|molecular]] [[Screening (medicine)|screening]] of hereditary nonpolyposis colorectal cancer.
*Approximately 80% of [[Patient|patients]] are identified using the Bethesda criteria, although the [[specificity]] is low.<ref>Lynch syndrome.Ganfyd.http://www.ganfyd.org/index.php?title=Lynch_syndrome Accessed on December 01, 2015</ref><ref name="pmid10348829">{{cite journal |vauthors=Vasen HF, Watson P, Mecklin JP, Lynch HT |title=New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC |journal=Gastroenterology |volume=116 |issue=6 |pages=1453–6 |year=1999 |pmid=10348829 |doi= |url=}}</ref>


[[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.
===Amsterdam Criteria===
The following are the Amsterdam criteria in identifying high-risk candidates for [[molecular]] [[genetic testing]]:<ref name="screen">{{cite journal | vauthors = Vasen HF, Watson P, Mecklin JP, Lynch HT | title = New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC | journal = Gastroenterology | volume = 116 | issue = 6 | pages = 1453–6 | date = Jun 1999 | pmid = 10348829 | doi = 10.1016/S0016-5085(99)70510-X }}</ref>


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.<ref name="wiki">Hereditary nonpolyposis colorectal cancer.Wikipedia.https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer Accessed on December 2, 2015 </ref>
'''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
===Amsterdam criteria===
The following are the Amsterdam criteria in identifying high-risk candidates for molecular genetic testing:<ref name="screen">{{cite journal | vauthors = Vasen HF, Watson P, Mecklin JP, Lynch HT | title = New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC | journal = Gastroenterology | volume = 116 | issue = 6 | pages = 1453–6 | date = Jun 1999 | pmid = 10348829 | doi = 10.1016/S0016-5085(99)70510-X }}</ref>
 
''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
*Two successive affected generations
*One or more colon cancers diagnosed under age 50 years
*One or more [[Colorectal cancer|colon cancers]] [[Diagnosis|diagnosed]] under age 50 years
*[[Familial adenomatous polyposis]] (FAP) has been excluded
*[[Familial adenomatous polyposis|Familial adenomatous polyposis (FAP)]] has been excluded


''Amsterdam Criteria II'':
'''Amsterdam Criteria II:'''
*Three or more family members with HNPCC-related cancers, one of whom is a first degree relative of the other two
*Three or more [[family]] members with HNPCC-related [[Cancer|cancers]], one of whom is a first degree relative of the other two
*Two successive affected generations
*Two successive affected generations
*One or more of the HNPCC-related cancers diagnosed under age 50 years
*One or more of the HNPCC-related [[cancers]] [[Diagnosis|diagnosed]] under age 50 years
*[[Familial adenomatous polyposis]] (FAP) has been excluded
*[[Familial adenomatous polyposis|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.<ref name="pmid14970275">{{cite journal |vauthors=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 |title=Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability |journal=J. Natl. Cancer Inst. |volume=96 |issue=4 |pages=261–8 |year=2004 |pmid=14970275 |pmc=2933058 |doi= |url=}}</ref>
 
''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.
===Bethesda Guidelines===


==Annual screening==
The revised Bethesda Guidelines are designed for identifying individuals at risk for hereditary nonpolyposis colorectal cancer, and therefore recommend [[microsatellite instability]] [[Test|testing]].<ref name="pmid14970275">{{cite journal |vauthors=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 |title=Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability |journal=J. Natl. Cancer Inst. |volume=96 |issue=4 |pages=261–8 |year=2004 |pmid=14970275 |pmc=2933058 |doi= |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>
'''Revised Bethesda guidelines:'''


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>
*[[Colorectal cancer]] [[Diagnosis|diagnosed]] in a patient aged < 50 years


* Physical examination
*Presence of [[Synchronicity|synchronous]], metachronous [[Colorectal cancer|colorectal]] or other Lynch syndrome‐related [[Tumor|tumors]], regardless of age


* Abdominal ultrasound
*With MSI‐H [[phenotype]] [[Diagnosis|diagnosed]] in a [[patient]] aged < 60 years


* Full colonoscopy
*[[Patient]] with [[colorectal cancer]] and a first‐degree relative with a Lynch syndrome‐related [[tumor]], with one of the [[Cancer|cancers]] [[Diagnosis|diagnosed]] at age < 50 years


* Upper gastrointestinal endoscopy (age 35 onwards)
*[[Patient]] with [[colorectal cancer]] with two or more first‐degree or second‐degree relatives with a Lynch syndrome‐related [[tumor]], regardless of age


* Gynecological examination including transvaginal ultrasound
:*Lynch syndrome‐related [[Tumor|tumors]] include [[Colorectal cancer|colorectal]], [[endometrial]], [[stomach]], [[ovarian]], [[pancreas]], [[ureter]], [[renal pelvis]], [[Bile duct|biliary tract]] and [[brain]] [[Tumor|tumors]], [[sebaceous gland]] [[Adenoma|adenomas]] and [[keratoacanthoma]]s, and [[carcinoma]] of the [[Small intestine|small bowel]]


* Endometrial pipelle biopsy (age 35 onwards)
==Surveillance==


* Skin surveillance
*According to Netherlands Surveillance Protocol for Carriers of an MMR-gene [[mutation]], there is sufficient evidence to recommend routine [[screening]] for HNPCC-related [[Cancer|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>


* Urinalysis
*Recommended annual [[screening]] for [[Patient|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:<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]]
The Amsterdam criteria was initially used mainly in the research context to select kindred for genetic testing in order to identify the mutations involved. The Bethesda is slightly more clinically applicable. Both have been revised as more information has accumulated.<ref>Lynch syndrome.Ganfyd.http://www.ganfyd.org/index.php?title=Lynch_syndrome Accessed on December 01,2015</ref>
:* [[Abdomen|Abdominal]] [[ultrasound]]
:* [[Colonoscopy]]
:* Upper [[Gastrointestinal tract|gastrointestinal]] [[endoscopy]] (age 35 onwards)
:* [[Gynaecology|Gynecological]] [[Physical examination|examination]] including transvaginal [[ultrasound]]
:* [[Endometrial]] pipelle [[biopsy]] (age 35 onwards)
:* [[Skin]] surveillance
:* [[Urine|Urinalysis]]


==References==
==References==
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Latest revision as of 14:55, 30 April 2019

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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

Amsterdam Criteria

The following are the Amsterdam criteria in identifying high-risk candidates for molecular genetic testing:[1]

Amsterdam Criteria I:

Amsterdam Criteria II:

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:

  • Patient with colorectal cancer with two or more first‐degree or second‐degree relatives with a Lynch syndrome‐related tumor, regardless of age

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]

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ Lynch syndrome.Ganfyd.http://www.ganfyd.org/index.php?title=Lynch_syndrome Accessed on December 01, 2015
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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. ↑ 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.


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