Comparative study of H3.3G34W protein expression and H3F3A gene mutation in gi-ant cell tumor of bone
Objective To compare the expression of H3.3G34W protein and H3F3A gene mutation in giant cell tumor of bone and the expression of H3.3G34W protein in other osteoclast-rich giant cell tumors,so as to provide a theoreti-cal basis for H3.3G34W as a diagnostic and differential diagnosis tool for gaint cell tumor of bone.Methods A total of 72 patients with gaint cell tumor of bone and 148 patients with osteoclast-rich giant cell tumors were enrolled in the First Affilia-ted Hospital of Zhengzhou University from July 2021 to March 2024.Immunohistochemistry was used to evaluate the expres-sion of H3.3G34W in gaint cell tumor of bone and non-gaint cell tumor of bone tumors,and Sanger DNA sequencing anal-ysis was used to detect the type of H3F3A mutation in gaint cell tumor of bone.The value of H3.3G34W expression and H3F3A gene mutation in the diagnosis of gaint cell tumor of bone was analyzed and compared.Results The positive rate of H3.3G34W in 72 gaint cell tumor of bone cases was 88.89%(64/72).All 72 cases of gaint cell tumor of bone gene se-quencing detected H3F3A mutation.Among the 8 cases of H3.3G34W immunohistochemistry-negative patients,1 case was detected with H3F3AG34W mutations,and 7 cases were rare mutations(included G34V,G34L,and G34R).Immunohis-tochemical H3.3G34W was not expressed in 148 cases of non-gaint cell tumor of bone tumors.Among the 8 cases of H3.3G34W immunohistochemistry-negative patients,1 case was detected with H3F3AG34W mutations,and 7 cases were rare mutations(included G34V,G34L,and G34R).The immunohistochemistry H3.3G34W was negative in 148 cases non-gaint cell tumor of bone tumors.Conclusion The most common locus of H3F3A gene mutation in gaint cell tumor of bone is G34W,which is consistent with the immunohistochemical expression of H3.3G34W.DNA sequencing analysis can detect rare mutation types of H3F3A.Immunohistochemistry showed that the expression of H3.3G34W mutant protein played an im-portant role in the diagnosis of giant cell tumor of bone and other giant cell-rich tumors,with high sensitivity and specificity.
giant cell tumor of boneH3F3AH3.3G34Wdifferential diagnosis
万方数据
维普
