Markers for Screening Lynch Syndrome Are Reliable and Useful for Identifying the Specimen Mislabeling
변선주, Choi Ji-Woon, 남경한, 장보근, 이희은, 김민아, 김우호,
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변선주 ( Byeon Sun-Ju )
Seoul National University College of Medicine Department of Pathology
( Choi Ji-Woon )
Seoul National University College of Medicine Department of Pathology
남경한 ( Nam Kyung-Han )
Seoul National University College of Medicine Department of Pathology
장보근 ( Jang Bo-Gun )
Seoul National University College of Medicine Department of Pathology
이희은 ( Lee Hee-Eun )
Seoul National University College of Medicine Department of Pathology
김민아 ( Kim Min-A )
Seoul National University College of Medicine Department of Pathology
김우호 ( Kim Woo-Ho )
Seoul National University College of Medicine Department of Pathology
KMID : 0357920120460020131
Abstract
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.
키워드
Microsatellite instability; Microsatellite repeats; Biometric identification; Gene frequency
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