Journal of Pathology and Translational Medicine

Original Articles

Markers for Screening Lynch Syndrome Are Reliable and Useful for Identifying the Specimen Mislabeling: Sun-ju Byeon, Jiwoon Choi, Kyung Han Nam, Bo-Gun Jang, Hee Eun Lee, Min A Kim, Woo Ho Kim; Korean J Pathol. 2012;46(2):131-136. Published online April 25, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.2.131

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Background

During specimen processing in surgical pathology laboratories, specimen-related adverse events (SRAEs), such as mislabeling and specimen mixed-up might occur. In these situations, molecular techniques using short tandem repeat (STR) loci are required to identify the personal identity. Microsatellite instability (MSI) test is widely used for screening the hereditary non-polyposis colon cancer (Lynch syndrome) in surgical pathologies using polymorphic STR markers. We tried to evaluate the applicability of the MSI test for SRAEs.

Methods

We obtained 253 MSI test results to analyze the allele frequencies. After calibrating the estimated nucleotide lengths, we calculated the allele frequencies, a random match probability, and a likelihood ratio (LR) of three dinucleotide STR markers (D5S349, D17S250, and D2S123).

Results

The distribution of LR was 136.38 to 5,606,213.10. There was no case of LR<100. In addition, there were 153 cases (60.5%) of LR ranging from 100 to 10,000 and 100 cases (39.5%) of LR>10,000. Furthermore, the combined probability of identity was 9.23×10^-4 and the combined power of exclusion was 0.99908.

Conclusions

Using the three STR markers that are recommended for MSI test, all the cases were positively identified in 1% range and about one-third cases showed high LR (>10,000). These results showed that MSI tests are useful to screen the personal identity in case of SRAE in pathology laboratories.

Citations

Citations to this article as recorded by

Lost, mislabeled, and mishandled surgical and clinical pathology specimens: A systematic review of published literature
Heather J Carmack, Braidyn S Lazenby, Kylie J Wilson, Jamie N Bakkum-Gamez, Leslie Carranza
American Journal of Clinical Pathology.2024; 162(4): 349. CrossRef
Sensitivity and polymorphism of Bethesda panel markers in Chinese population
Yanying Zheng, Jie Chen, Xiang Zhang, Ling Xie, Yifen Zhang, Yi Sun
Bulletin du Cancer.2020; 107(11): 1091. CrossRef

Microsatellite Instability in Colorectal Carcinomas.: Hee Jeong Cha, Dong Kyun Woo, Sun Hee Kim, Yong ll Kim, Jae Gahb Park, Woo Ho Kim; Korean J Pathol. 2001;35(2):111-114.

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Abstract PDF: BACKGROUND
Microsatellite instability (MSI), which is caused by a deficient mismatch repair system, is seen in most of the hereditary non-polyposis colon cancers and a portion of sporadic colorectal cancers.
METHODS
Two hundreds forty-six consecutive sporadic colorectal cancer patients were analyzed for MSI using an ABI 377 automatic sequencer and fluorescent dye-labelled primers (BAT-25 and BAT-26).
RESULTS
The overall incidence of MSI in studied cases was 9.8% (24/246). This incidence is lower than most of the reported incidences in western countries. The incidence of MSI tumors in the proximal colon was 29.6%, while that of the distal colon was only 4.2% (p<0.001). MSI in sporadic colorectal cancers was more prevalent in poorly differentiated adenocarcinoma. In contrast to western countries, mucinous carcinoma did not show higher incidence of MSI.
CONCLUSION
The results suggest that MSI frequently occurs in cancers of the proximal colon and in tumors with poorly differentiated histology.

beta-Catenin Expression in Gastric Carcinogenesis.: Haeyoun Kang, Yon Rak Choi, Hoguen Kim; Korean J Pathol. 2001;35(5):376-382.

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Abstract PDF: BACKGROUND
The molecular pathogenesis of gastric carcinoma is not yet well characterized. The purpose of this study is to assess the role of beta-catenin in gastric carcinogenesis.
METHODS
We analyzed beta-catenin expression using immunohistochemistry on 68 gastric adenomas and 34 gastric adenocarcinomas, and compared the result with pathological and molecular types of tumors and E-cadherin expression.
RESULTS
Nuclear expression of beta-catenin was noted more frequently in gastric adenomas than in carcinomas (40% vs. 21%, 0.05< or = P<1). There was no significant relationship between nuclear beta-catenin expression and histologic degree of adenoma, histologic type of carcinoma or microsatellite instability. E-cadherin expression showed significantly more frequent decrease in the membrane stainability of carcinomas compared to adenomas (P<0.01).
CONCLUSIONS
The frequent nuclear beta-catenin expression in gastric adenomas suggests that the beta-catenin alteration might play an early role in gastric carcinogenesis.

Microsatellite Instability and Mismatch Repair Protein (hMLH1, hMSH2) Expression in Intrahepatic Cholangiocarcinoma.: Yun Kyung Kang, Woo Ho Kim; Korean J Pathol. 2005;39(1):9-14.

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Abstract PDF: BACKGROUND
To clarify the role of the mismatch repair (MMR) system in the carcinogenesis of intrahepatic cholangiocarcinoma (ICC), we investigated the microsatellite instability (MSI) status and MMR protein expression in ICC.
METHODS
Thirty-six cases of ICCs were examined by microsatellite analysis for 55 markers that encompassed all of the chromosomal arms and BAT26. An immunohistochemical study for hMLH1 and hMSH2 was also performed.
RESULTS
Widespread MSI (MSI-H) accompanied with a loss of hMLH1 expression was found in one case (2.8%). This MSI-H case was an adenosquamous carcinoma showing intraductal tubulopapillary adenocarcinoma and invasive adenosquamous carcinoma component. Loss of hMLH1 was noted in both components while the frequency and shifted band patterns of MSI were not identical between the components. Another 10 ICCs (27.8%) revealed low level MSI with preserved MMR gene expression.
CONCLUSIONS
Our data suggested that a genetic defect in the MMR system and MSI is not a major pathway in the carcinogenesis of ICC.

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