Difference between revisions of "Lynch syndrome"

From Libre Pathology
Jump to navigation Jump to search
Line 22: Line 22:
*Urinary system carcinoma.<ref name=OMIM120435>{{OMIM|120435}}</ref>
*Urinary system carcinoma.<ref name=OMIM120435>{{OMIM|120435}}</ref>
**More common in the [[ureter]] than in sporadic cancers.<ref name=pmid21419447>{{Cite journal  | last1 = Crockett | first1 = DG. | last2 = Wagner | first2 = DG. | last3 = Holmäng | first3 = S. | last4 = Johansson | first4 = SL. | last5 = Lynch | first5 = HT. | title = Upper urinary tract carcinoma in Lynch syndrome cases. | journal = J Urol | volume = 185 | issue = 5 | pages = 1627-30 | month = May | year = 2011 | doi = 10.1016/j.juro.2010.12.102 | PMID = 21419447 }}</ref>
**More common in the [[ureter]] than in sporadic cancers.<ref name=pmid21419447>{{Cite journal  | last1 = Crockett | first1 = DG. | last2 = Wagner | first2 = DG. | last3 = Holmäng | first3 = S. | last4 = Johansson | first4 = SL. | last5 = Lynch | first5 = HT. | title = Upper urinary tract carcinoma in Lynch syndrome cases. | journal = J Urol | volume = 185 | issue = 5 | pages = 1627-30 | month = May | year = 2011 | doi = 10.1016/j.juro.2010.12.102 | PMID = 21419447 }}</ref>
**Papillary lesions > flat lesions.<ref name=pmid12673555>{{Cite journal  | last1 = Hartmann | first1 = A. | last2 = Dietmaier | first2 = W. | last3 = Hofstädter | first3 = F. | last4 = Burgart | first4 = LJ. | last5 = Cheville | first5 = JC. | last6 = Blaszyk | first6 = H. | title = Urothelial carcinoma of the upper urinary tract: inverted growth pattern is predictive of microsatellite instability. | journal = Hum Pathol | volume = 34 | issue = 3 | pages = 222-7 | month = Mar | year = 2003 | doi = 10.1053/hupa.2003.22 | PMID = 12673555 }}</ref>
**Inverted growth pattern suggestive of MSI.<ref name=pmid12673555/>


Lame mnemonic ''GP CUBE'':  
Lame mnemonic ''GP CUBE'':  

Revision as of 02:59, 14 November 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[10] - second most common.
  • PMS2 gene.[11]
  • MSH6 gene.[12]
  • Others.

Special types

Muir-Torre syndrome

  • Abbreviated MTS.

Molecular pathology:

  • MTS is caused by mutations in MSH2 or MLH1.[15]

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. ↑ 9.0 9.1 Hartmann, A.; Dietmaier, W.; Hofstädter, F.; Burgart, LJ.; Cheville, JC.; Blaszyk, H. (Mar 2003). "Urothelial carcinoma of the upper urinary tract: inverted growth pattern is predictive of microsatellite instability.". Hum Pathol 34 (3): 222-7. doi:10.1053/hupa.2003.22. PMID 12673555.
  10. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 120436
  11. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 600259
  12. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 600678
  13. ↑ 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.
  14. ↑ 14.0 14.1 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.
  15. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 158320
Retrieved from "https://librepathology.org/w/index.php?title=Lynch_syndrome&oldid=25797"