Difference between revisions of "Lynch syndrome"

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==Special types==
==Special types==
===Muir-Torre syndrome===
===Muir-Torre syndrome===
Muir-Torre syndrome is a subset of HNPCC that includes the presence of [[sebaceous adenoma]]s.<ref>{{Ref PBoD8|1177}}</ref>
Muir-Torre syndrome is a subset of HNPCC that includes the presence of [[sebaceous adenoma]]s.<ref>{{Ref PBoD8|1177}}</ref>  It is caused by mutations in MSH2 or MLH1.<ref name=omim158320>{{OMIM|158320}}</ref>


==See also==
==See also==

Revision as of 02:47, 26 May 2011

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.[1]

As the name suggests, HNPCC is a form of inherited colorectal cancer that is not characterized by abundant intestinal polyps (non-polyposis), as in adenomatous polyposis coli.

Clinical

Divided into:[1]

  • Lynch syndrome I - colon cancer associated.
  • Lynch syndrome II - non-colon cancer associated.

Associations

  • Colorectal carcinoma.
  • Non-endometrioid endometrial carcinoma.[2]
  • Stomach.[1]
  • Biliary tree.[1]

Genes

  • MSH2 gene.[1]
  • MLH1 gene.[3]
  • PMS2 gene.[4]
  • MSH6 gene.[5]
  • Others.

Special types

Muir-Torre syndrome

Muir-Torre syndrome is a subset of HNPCC that includes the presence of sebaceous adenomas.[6] It is caused by mutations in MSH2 or MLH1.[7]

See also

References

  1. 1.0 1.1 1.2 1.3 1.4 Online 'Mendelian Inheritance in Man' (OMIM) 120435
  2. Okuda T, Sekizawa A, Purwosunu Y, et al. (2010). "Genetics of endometrial cancers". Obstet Gynecol Int 2010: 984013. doi:10.1155/2010/984013. PMC 2852605. PMID 20396392. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2852605/.
  3. Online 'Mendelian Inheritance in Man' (OMIM) 120436
  4. Online 'Mendelian Inheritance in Man' (OMIM) 600259
  5. Online 'Mendelian Inheritance in Man' (OMIM) 600678
  6. Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1177. ISBN 978-1416031215.
  7. Online 'Mendelian Inheritance in Man' (OMIM) 158320