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Difference between revisions of "Microsatellite instability in colorectal cancer"
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Microsatellite instability in colorectal cancer (view source)
Revision as of 21:09, 13 March 2016
, 21:09, 13 March 2016→Etiology/significance loss of staining
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===Etiology/significance loss of staining=== | ===Etiology/significance loss of staining=== | ||
*MSH2 | *MSH2 loss (IHC stain -ve) - often associated with a germline mutation,<ref name=pmid16216036>{{cite journal |author=Mangold E, Pagenstecher C, Friedl W, ''et al.'' |title=Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining |journal=J. Pathol. |volume=207 |issue=4 |pages=385–95 |year=2005 |month=December |pmid=16216036 |doi=10.1002/path.1858 |url=}}</ref> while mutations in MLH1 are usually sporatic.<ref>A. Pollett. 2010.</ref> | ||
*PMS2 | *PMS2 loss (IHC stain -ve) - often associated with a germline mutation,<ref name=pmid20205264>{{cite journal |author=Vaughn CP, Robles J, Swensen JJ, ''et al.'' |title=Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes |journal=Hum. Mutat. |volume=31 |issue=5 |pages=588–93 |year=2010 |month=May |pmid=20205264 |doi=10.1002/humu.21230 |url=}}</ref> may be due to MLH1 promoter hypermethylation.<ref name=pmid26848797>{{Cite journal | last1 = Kato | first1 = A. | last2 = Sato | first2 = N. | last3 = Sugawara | first3 = T. | last4 = Takahashi | first4 = K. | last5 = Kito | first5 = M. | last6 = Makino | first6 = K. | last7 = Sato | first7 = T. | last8 = Shimizu | first8 = D. | last9 = Shirasawa | first9 = H. | title = Isolated Loss of PMS2 Immunohistochemical Expression is Frequently Caused by Heterogenous MLH1 Promoter Hypermethylation in Lynch Syndrome Screening for Endometrial Cancer Patients. | journal = Am J Surg Pathol | volume = | issue = | pages = | month = Feb | year = 2016 | doi = 10.1097/PAS.0000000000000606 | PMID = 26848797 }}</ref> | ||
How to remember the more important MSI stuff: | How to remember the more important MSI stuff: | ||