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Difference between revisions of "Lynch syndrome"
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The term ''Lynch syndrome'' is preferred as individuals with this syndrome often present with non-colorectal cancers. | The term ''Lynch syndrome'' is preferred as individuals with this syndrome often present with non-colorectal cancers. | ||
==Clinical== | ==General== | ||
*Definitive diagnosis is by molecular testing (sequencing). | |||
*[[Immunohistochemical stains]] have a very strong concordance with molecular testing - see ''[[microsatellite instability]]''. | |||
===Clinical classification=== | |||
Divided into:<ref name=OMIM120435>{{OMIM|120435}}</ref> | Divided into:<ref name=OMIM120435>{{OMIM|120435}}</ref> | ||
*''Lynch syndrome I'' - colon cancer associated. | *''Lynch syndrome I'' - colon cancer associated. | ||
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** More common in females (~50%) vs. males (~25%).<ref name=pmid19215248>{{Cite journal | last1 = Barrow | first1 = E. | last2 = Robinson | first2 = L. | last3 = Alduaij | first3 = W. | last4 = Shenton | first4 = A. | last5 = Clancy | first5 = T. | last6 = Lalloo | first6 = F. | last7 = Hill | first7 = J. | last8 = Evans | first8 = DG. | title = Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. | journal = Clin Genet | volume = 75 | issue = 2 | pages = 141-9 | month = Feb | year = 2009 | doi = 10.1111/j.1399-0004.2008.01125.x | PMID = 19215248 }}</ref> | ** More common in females (~50%) vs. males (~25%).<ref name=pmid19215248>{{Cite journal | last1 = Barrow | first1 = E. | last2 = Robinson | first2 = L. | last3 = Alduaij | first3 = W. | last4 = Shenton | first4 = A. | last5 = Clancy | first5 = T. | last6 = Lalloo | first6 = F. | last7 = Hill | first7 = J. | last8 = Evans | first8 = DG. | title = Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. | journal = Clin Genet | volume = 75 | issue = 2 | pages = 141-9 | month = Feb | year = 2009 | doi = 10.1111/j.1399-0004.2008.01125.x | PMID = 19215248 }}</ref> | ||
==Associations== | ===Genes=== | ||
*MSH2 gene<ref name=OMIM120435>{{OMIM|120435}}</ref> - most common. | |||
*MLH1 gene<ref name=OMIM120436>{{OMIM|120436}}</ref> - second most common. | |||
*PMS2 gene.<ref name=OMIM600259>{{OMIM|600259}}</ref> | |||
*MSH6 gene.<ref name=OMIM600678>{{OMIM|600678}}</ref> | |||
*Others. | |||
===Associations=== | |||
*[[Colorectal carcinoma]]. | *[[Colorectal carcinoma]]. | ||
*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> | ||
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*All the cancers are below the diaphragm. | *All the cancers are below the diaphragm. | ||
== | ===Special types=== | ||
====Muir-Torre syndrome==== | |||
===Muir-Torre syndrome=== | |||
*Abbreviated ''MTS''. | *Abbreviated ''MTS''. | ||
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Molecular pathology: | Molecular pathology: | ||
*MTS is caused by mutations in MSH2 or MLH1.<ref name=omim158320>{{OMIM|158320}}</ref> | *MTS is caused by mutations in MSH2 or MLH1.<ref name=omim158320>{{OMIM|158320}}</ref> | ||
==IHC== | |||
:''See [[microsatellite instability]]''. | |||
==See also== | ==See also== | ||