FGFR3和EXT基因突变与髁突骨软骨瘤相关性研究

目的 探讨FGFR3和EXT基因突变与髁突骨软骨瘤的相关性,为临床诊治髁突骨软骨瘤提供依据。方法 分析2017年1月—2021年6月在我院住院的髁突骨软骨瘤患者的临床表现,利用外周静脉血进行基因全外显子检测,免疫组织化学方法检测髁突骨软骨瘤组织中FGFR3和EXT1蛋白的表达。结果 共 10例孤立性髁突骨软骨瘤。男女比例为1∶1.5,平均年龄为37.1岁,左右侧之比为9∶1。3例患者行全外显子检测显示FGFR3基因突变,其中2例存在共同位点突变。2例患者存在EXT1基因同一位点突变。有8例髁突骨软骨瘤组织行免疫组织化学染色,均存在EXT1阳性表达,且1例患者同时存在EXT1和FGFR3阳性表达。结论 FGFR3和EXT基因突变与髁突骨软骨瘤发生存在一定相关性,其具体相关机制还需要进一步研究证实。

Association between FGFR3 and EXT gene mutations and condylar osteochondroma

Objective To investigate the association of mutations in the EXT and FGFR3 genes with osteochondroma of the condyle and to provide a basis for clinical treatment of condylarosteochondroma. Methods Clinical manifestation and imaging features of patients with condylar osteochondromaadmitted in our hospital from January 2017 to June 2021were analyzed. Peripheral blood was used for gene whole-exome detection, and the expression of FGFR3 and EXT1 proteins in the tissues was detected by immunohistochemical methods. Results There were 10 cases of isolation condylar osteochondroma. The male-to-female ratio was 1∶1.5; the mean age was 37.1 years, and the ratio between left side and right sidewas 9∶1. Three patients who underwent whole-exome test all had FGFR3 gene mutation; two of them had common site mutations. Two cases had EXT1 gene mutations whichwere located at the same site. Immunohistochemical staining showed positive EXT1 expression in 8 of the 10 condylar osteochondromas and FGFR3 expression was also positive in 1 case. Conclusion The condylar osteochondroma is not only related to EXT1 gene mutations but may also relate to FGFR3 gene mutations. However, results of whole-exome detection and immunohistochemical staining are inconsistent, and specifically related mechanisms need to be further studied and confirmed.