Markers for Screening Lynch Syndrome Are Reliable and Useful for Identifying the Specimen Mislabeling
Korean Journal of Pathology
;
: 131-136, 2012.
Artigo
em Inglês
| WPRIM
| ID: wpr-25787
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 LR10,000. Furthermore, the combined probability of identity was 9.23x10(-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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia Cirúrgica
/
Succinimidas
/
Neoplasias Colorretais Hereditárias sem Polipose
/
Programas de Rastreamento
/
Neoplasias do Colo
/
Repetições de Microssatélites
/
Instabilidade de Microssatélites
/
Identificação Biométrica
/
Frequência do Gene
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Humanos
Idioma:
Inglês
Revista:
Korean Journal of Pathology
Ano de publicação:
2012
Tipo de documento:
Artigo
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