Mucinous borderline ovarian tumors withBRAFV600Emutation may have low risk for progression to invasive carcinomas
Mucinous borderline ovarian tumors withBRAFV600Emutation may have low risk for progression to invasive carcinomas
复制标题
DOI：
10.1007/s00404-020-05638-8
复制
发表时间：
2020-06-16
影响因子：
2.6
通讯作者：
Kyo, Satoru
中科院分区：
文献类型：
--
作者：
Ohnishi, Kaori;Nakayama, Kentaro;Kyo, Satoru
目的卵巢粘液性癌（MOCs）是一种较为罕见的肿瘤。有研究认为，一部分粘液性囊腺瘤（MCAs）可能发展为粘液性交界性肿瘤（mbt），然后发展为MOCs。KRASis是MOC的主要突变基因；然而，MOC的其他相关突变和致癌机制尚不清楚。在这里，我们评估了卵巢粘液性肿瘤的分子遗传改变，并构建了突变谱。方法采用Sanger测序法，对16例MOC、10例MBT和12例MCA的基因突变（KRAS、BRAF、TP53和pik3ca）进行检测。结果MOC病例中，G12D和g13dkras突变的发生率为43.8%（7/16）。无MOC病例出现v600ebrafand tp53突变。在MBT病例中，g12dkras突变的发生率为20.0% (2/10)，tp53和pik3突变的发生率为零，V600EBRAFmutation的发生率为40%（4/10）。在MCA病例中没有检测到评估的基因突变。结论v600ebra突变的MBT很少发展为MOC，而G12D或g13dkrasa突变的MBT更容易发展为MOC。
Purpose Mucinous ovarian carcinomas (MOCs) are relatively rare. It has been proposed that a subset of mucinous cystadenomas (MCAs) may progress to mucinous borderline tumors (MBTs), and then to MOCs.KRASis the predominantly mutated gene in MOC; however, other associated mutations and the mechanism underlying carcinogenesis in MOC remain unclear. Here, we assessed molecular genetic alterations in mucinous ovarian tumors and constructed mutation profiles. Methods Using the Sanger sequencing method, we assessed genetic mutations (KRAS,BRAF,TP53, andPIK3CA) in 16 cases of MOC, 10 cases of MBT, and 12 cases of MCA. Results Among MOC cases, the prevalence of G12D and G13DKRASmutations was 43.8% (7/16). No MOC cases showed V600EBRAFandTP53mutations. Among MBT cases, the prevalence of G12DKRASmutation was 20.0% (2/10), those ofTP53andPIK3CAmutations were nil, and that of V600EBRAFmutation was 40% (4/10). None of the genetic mutations assessed were detected among MCA cases. Conclusion These results suggest that MBT with V600EBRAFmutation may rarely progress to MOC, while MBT with G12D or G13DKRASmutation may more commonly progress to MOC.