Immunohistochemistry and microsatellite instability profile of colorectal cancer with PMS2 germline mutation in Chinese population
KONG Ling-heng
DING Pei-rong
JIANG Wu
CAI Mu-yan
WANG Fang
TANG Jing-hua
PENG Jian-hong
ZHANG Rong-xin
WEN Yong-shan
CHEN Chun-yan
PAN Zhi-zhong
Abstract：Objective To investigate the characteristic of immunohistochemistry and microsatellite instability in colorectal cancer patients with PMS2 germline mutation.Methods Colorectal cancer patients, who met any of the following criteria, including Amsterdam Criteria Ⅱ or revised Bethesda Guidelines, MSI-H or loss expression of any MMR proteins, were enrolled for mismatch repair gene germline mutation test using targeted next-generation sequencing.Results Twenty-seven PMS2 germline mutation cases were found, including 4 pathogenic mutations and 23 variants of uncertain significance.Isolated loss of PMS2 expression and MSI-H were observed in all 4 pathogenic mutation cases.Seven of 21 tested VUS cases demonstrated loss of PMS2 expression.MSI-H was observed in 10 of 19 VUS probands.Only 5 of 21 VUS cases presented with concordant loss of PMS2 expression and MSI-H.Conclusion Pathogenic germline PMS2 mutation is likely to exhibit solitary deficient expression of PMS2.Phenotype of PMS2 VUS varies, which should be interpreted with cautiousness.
Keywords：lynch syndromePMS2immunohistochemistrymicrosatellite instabilityDNA mismatch repair
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 1499-1504 )