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Difference between revisions of "Lynch syndrome"
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[[Image:Tumour-infiltrating lymphocytes - 2 -- very high mag.jpg|thumb|right|[[Micrograph]] showing [[tumour infiltrating lymphocytes]], a finding seen in Lynch syndrome.]] | [[Image:Tumour-infiltrating lymphocytes - 2 -- very high mag.jpg|thumb|right|250px||[[Micrograph]] showing [[tumour infiltrating lymphocytes]], a finding seen in Lynch syndrome.]] | ||
'''Lynch syndrome''', also '''hereditary non-polyposis colorectal cancer syndrome''' (abbreviated '''HNPCC'''), is a constellation of clinical findings caused by a mutation in a mismatch repair gene, of which there are several.<ref name=OMIM120435>{{OMIM|120435}}</ref> | '''Lynch syndrome''', also '''hereditary non-polyposis colorectal cancer syndrome''' (abbreviated '''HNPCC'''), is a constellation of clinical findings caused by a mutation in a mismatch repair gene, of which there are several.<ref name=OMIM120435>{{OMIM|120435}}</ref> | ||
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*MLH1 gene<ref name=OMIM120436>{{OMIM|120436}}</ref> - second most common. | *MLH1 gene<ref name=OMIM120436>{{OMIM|120436}}</ref> - second most common. | ||
*PMS2 gene.<ref name=OMIM600259>{{OMIM|600259}}</ref> | *PMS2 gene.<ref name=OMIM600259>{{OMIM|600259}}</ref> | ||
*MSH6 gene | *MSH6 gene<ref name=OMIM600678>{{OMIM|600678}}</ref> - tend to present in older individuals compared to individuals with MLH1 or MSH2 mutations.<ref name=pmid24056992>{{Cite journal | last1 = Stewart | first1 = A. | title = Genetic testing strategies in newly diagnosed endometrial cancer patients aimed at reducing morbidity or mortality from lynch syndrome in the index case or her relatives. | journal = PLoS Curr | volume = 5 | issue = | pages = | month = | year = 2013 | doi = 10.1371/currents.eogt.b59a6e84f27c536e50db4e46aa26309c | PMID = 24056992 }}</ref> | ||
*Others. | *Others. | ||
===Associations=== | ===Associations=== | ||
*[[Colorectal carcinoma]]. | *[[Colorectal carcinoma]]. | ||
*[[Endometrial carcinoma]]. | *[[Endometrial carcinoma]]. | ||
**Morphologic features are not [[sensitivity|sensitive]] - IHC required. | |||
**Non-endometrioid [[endometrial carcinoma]],<ref name=pmid20396392>{{cite journal |author=Okuda T, Sekizawa A, Purwosunu Y, ''et al.'' |title=Genetics of endometrial cancers |journal=Obstet Gynecol Int |volume=2010 |issue= |pages=984013 |year=2010 |pmid=20396392 |pmc=2852605 |doi=10.1155/2010/984013 |url=}}</ref> e.g. [[endometrial clear cell carcinoma]].<ref name=pmid19638537>{{Cite journal | last1 = Garg | first1 = K. | last2 = Soslow | first2 = RA. | title = Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma. | journal = J Clin Pathol | volume = 62 | issue = 8 | pages = 679-84 | month = Aug | year = 2009 | doi = 10.1136/jcp.2009.064949 | PMID = 19638537 | url = http://jcp.bmj.com/content/62/8/679.long }}</ref> | **Non-endometrioid [[endometrial carcinoma]],<ref name=pmid20396392>{{cite journal |author=Okuda T, Sekizawa A, Purwosunu Y, ''et al.'' |title=Genetics of endometrial cancers |journal=Obstet Gynecol Int |volume=2010 |issue= |pages=984013 |year=2010 |pmid=20396392 |pmc=2852605 |doi=10.1155/2010/984013 |url=}}</ref> e.g. [[endometrial clear cell carcinoma]].<ref name=pmid19638537>{{Cite journal | last1 = Garg | first1 = K. | last2 = Soslow | first2 = RA. | title = Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma. | journal = J Clin Pathol | volume = 62 | issue = 8 | pages = 679-84 | month = Aug | year = 2009 | doi = 10.1136/jcp.2009.064949 | PMID = 19638537 | url = http://jcp.bmj.com/content/62/8/679.long }}</ref> | ||
**[[Endometrioid endometrial carcinoma]].<ref name=pmid11873308>{{Cite journal | last1 = Lax | first1 = SF. | title = [Dualistic model of molecular pathogenesis in endometrial carcinoma]. | journal = Zentralbl Gynakol | volume = 124 | issue = 1 | pages = 10-6 | month = Jan | year = 2002 | doi = 10.1055/s-2002-20303 | PMID = 11873308 }}</ref> | **[[Endometrioid endometrial carcinoma]].<ref name=pmid11873308>{{Cite journal | last1 = Lax | first1 = SF. | title = [Dualistic model of molecular pathogenesis in endometrial carcinoma]. | journal = Zentralbl Gynakol | volume = 124 | issue = 1 | pages = 10-6 | month = Jan | year = 2002 | doi = 10.1055/s-2002-20303 | PMID = 11873308 }}</ref> | ||