Difference between revisions of "Lynch syndrome"

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*[[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>
**Suggestive features: lower uterine segment, [[tumour infiltrating lymphocytes]].<ref name=pmid9638537>{{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 }}</ref>
*[[Stomach carcinoma]],<ref name=OMIM120435>{{OMIM|120435}}</ref> intestinal-type.<ref name=pmid3581033>{{Cite journal  | last1 = Cristofaro | first1 = G. | last2 = Lynch | first2 = HT. | last3 = Caruso | first3 = ML. | last4 = Attolini | first4 = A. | last5 = DiMatteo | first5 = G. | last6 = Giorgio | first6 = P. | last7 = Senatore | first7 = S. | last8 = Argentieri | first8 = A. | last9 = Sbano | first9 = E. | title = New phenotypic aspects in a family with Lynch syndrome II. | journal = Cancer | volume = 60 | issue = 1 | pages = 51-8 | month = Jul | year = 1987 | doi =  | PMID = 3581033 }}</ref>
*[[Stomach carcinoma]],<ref name=OMIM120435>{{OMIM|120435}}</ref> intestinal-type.<ref name=pmid3581033>{{Cite journal  | last1 = Cristofaro | first1 = G. | last2 = Lynch | first2 = HT. | last3 = Caruso | first3 = ML. | last4 = Attolini | first4 = A. | last5 = DiMatteo | first5 = G. | last6 = Giorgio | first6 = P. | last7 = Senatore | first7 = S. | last8 = Argentieri | first8 = A. | last9 = Sbano | first9 = E. | title = New phenotypic aspects in a family with Lynch syndrome II. | journal = Cancer | volume = 60 | issue = 1 | pages = 51-8 | month = Jul | year = 1987 | doi =  | PMID = 3581033 }}</ref>
**Significantly more common in males.<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>
**Significantly more common in males.<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>

Revision as of 10:25, 10 July 2013

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.

The term Lynch syndrome is preferred as individuals with this syndrome often present with non-colorectal cancers.

Clinical

Divided into:[1]

  • Lynch syndrome I - colon cancer associated.
  • Lynch syndrome II - non-colon cancer associated.
    • More common in females (~50%) vs. males (~25%).[2]

Associations

Lame mnemonic GP CUBE:

  • Gastric.
  • Pancreas.
  • CRC.
  • UCC.
  • Biliary.
  • Endometrial.

Note:

  • All the cancers are below the diaphragm.

Genes

  • MSH2 gene[1] - most common.
  • MLH1 gene[9] - second most common.
  • PMS2 gene.[10]
  • MSH6 gene.[11]
  • Others.

Special types

Muir-Torre syndrome

  • Abbreviated MTS.

Molecular pathology:

  • MTS is caused by mutations in MSH2 or MLH1.[14]

See also

References

  1. 1.0 1.1 1.2 1.3 1.4 1.5 1.6 Online 'Mendelian Inheritance in Man' (OMIM) 120435
  2. 2.0 2.1 Barrow, E.; Robinson, L.; Alduaij, W.; Shenton, A.; Clancy, T.; Lalloo, F.; Hill, J.; Evans, DG. (Feb 2009). "Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations.". Clin Genet 75 (2): 141-9. doi:10.1111/j.1399-0004.2008.01125.x. PMID 19215248.
  3. 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/.
  4. Garg, K.; Soslow, RA. (Aug 2009). "Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma.". J Clin Pathol 62 (8): 679-84. doi:10.1136/jcp.2009.064949. PMID 19638537. http://jcp.bmj.com/content/62/8/679.long.
  5. Garg, K.; Soslow, RA. (Aug 2009). "Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma.". J Clin Pathol 62 (8): 679-84. doi:10.1136/jcp.2009.064949. PMID 19638537.
  6. Cristofaro, G.; Lynch, HT.; Caruso, ML.; Attolini, A.; DiMatteo, G.; Giorgio, P.; Senatore, S.; Argentieri, A. et al. (Jul 1987). "New phenotypic aspects in a family with Lynch syndrome II.". Cancer 60 (1): 51-8. PMID 3581033.
  7. Renkonen-Sinisalo, L.; Sipponen, P.; Aarnio, M.; Julkunen, R.; Aaltonen, LA.; Sarna, S.; Järvinen, HJ.; Mecklin, JP. (May 2002). "No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer.". Scand J Gastroenterol 37 (5): 574-7. PMID 12059060.
  8. Crockett, DG.; Wagner, DG.; Holmäng, S.; Johansson, SL.; Lynch, HT. (May 2011). "Upper urinary tract carcinoma in Lynch syndrome cases.". J Urol 185 (5): 1627-30. doi:10.1016/j.juro.2010.12.102. PMID 21419447.
  9. Online 'Mendelian Inheritance in Man' (OMIM) 120436
  10. Online 'Mendelian Inheritance in Man' (OMIM) 600259
  11. Online 'Mendelian Inheritance in Man' (OMIM) 600678
  12. 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.
  13. 13.0 13.1 Cohen, PR.; Kohn, SR.; Kurzrock, R. (May 1991). "Association of sebaceous gland tumors and internal malignancy: the Muir-Torre syndrome.". Am J Med 90 (5): 606-13. PMID 2029018.
  14. Online 'Mendelian Inheritance in Man' (OMIM) 158320