摘要
目的 探讨BRAF非V600E突变结直肠癌突变形式及临床病理特征。方法 对827例结直肠癌标本行NGS检测,筛选BRAF非V600E突变病例,分析突变形式,比较其与V600E突变病例的临床病理特征差异。结果 检出BRAF突变58例,其中20例为非V600E突变。热点突变15例,罕见点突变1例;串联重复区域单核苷酸缺失(移码)突变1例,双核苷酸插入(剪切区域)突变1例;BRAF基因融合2例。与V600E突变相比,非V600E突变病例原发于右半结肠比例显著偏低(49%vs 80%,P=0.021),中位发病年龄更大(60岁vs 68岁,P=0.021)。有2例非V600E病例表现为错配修复缺陷(dMMR),突变形式均为串联重复区域插入/缺失突变。结论 非V600E突变在BRAF突变结直肠癌中占相当比例,突变形式丰富多样,与V600E突变患者具有不同的临床病理特征。
Objective To investigate the BRAF status and clinicopathological features of non-V600E-mutated colorectal cancer. Methods A total of 827 colorectal cancer(CRC)specimens were subject to NGS. The clinicopathological characteristics and BRAF status of the non-V600E mutated CRCs were analyzed and compared with their V600E-mutation counterparts. Results BRAF mutation were detected in 58 cases, of which 20 were non-V600E. There were 15 hot spot mutations, one rare point mutation;one single nucleotide deletion mutation(frameshift) in the tandem repeat region, one double nucleotide insertion mutation(splice region);and 2 BRAF gene fusions. Compared with V600E-mutated CRC, non-V600E-mutation cases had a significantly lower proportion of right colon primary(49% vs. 80%, P=0.021), and the median age of onset was older(60 vs. 68 years, P=0.021). There were 2 non-V600E-mutated cases with mismatch repair deficiency(dMMR), both harbored insertion/deletion mutations in the tandem repeat region of the BRAF gene. Conclusion Non-V600E-mutated CRC accounts for a considerable proportion of BRAF-mutated CRC. The spectrum of BRAF mutations is diverse, with clinicopathological features that are different from the V600E-mutated patients.
作者
韩文祺
陆俊良
王婧
吴焕文
梁智勇
HAN Wen-qi;LU Jun-liang;WANG Jing;WU Huan-wen;LIANG Zhi-yong(Department of Pathoogy,Peking Union Medical College Hospital,Chinese Academy of Medical Science&Peking Union Medical College,Beijing 100730,China)
出处
《诊断病理学杂志》
2022年第12期1106-1110,共5页
Chinese Journal of Diagnostic Pathology
