Multigene mutational profiling of biliary tract cancer is related to the pattern of recurrence in surgically resected patients
Multigene mutational profiling of biliary tract cancer is related to the pattern of recurrence in surgically resected patients
复制标题
DOI：
10.1007/s13304-020-00718-5
复制
发表时间：
2020-02-04
影响因子：
2.6
通讯作者：
Scarpa, Aldo
中科院分区：
文献类型：
--
作者：
Conci, Simone;Ruzzenente, Andrea;Scarpa, Aldo
本研究的目的是探讨突变基因与胆道癌复发的关系。从1990年到2012年，共有103例BTC患者在一个三级HPB手术转诊中心接受了根治性手术，对52个癌症相关基因的突变状态进行了评估。胆囊癌5年无复发生存率16.7%(中位无复发7个月)，肝内胆管细胞癌42.9%(中位无复发26.4个月)，肝门周围胆管癌19.7%(中位16.5个月)，P=0.166。在包括临床、病理和分子特征在内的多因素分析中，手术根治性(OR 2.050，CI 1.104~3.807，p=0.023)、LN状态(OR 1.835，CI 1.006~3.348，p=0.048)、ARID1a基因突变状态(OR 2.566，CI 1.174~5.608，p=0.018)和TP53(OR2.805，CI 4.432~5.496，p=0.048)是影响RFS的独立因素。在43%和29%的病例中，ARID1A突变与局部和全身复发有关；在29%和41%的病例中，TP53突变与局部和全身复发有关。而且在早期复发的肿瘤中，tp53基因突变最常见，p=0.044。ARID1A和TP53突变似乎与术后预后不良有关，可能被认为是BTC生物学侵袭性的分子预测因子。
The aim of the present study was to investigate the relationship between the mutational gene profile and recurrence in biliary tract cancers (BTC). A total of 103 specimens of patients with BTC, who underwent curative surgery in a single tertiary HPB surgery referral center from 1990 to 2012, were assessed for mutational status in 52 cancer-related genes. Considering the different types of BTC, the 5-year recurrence-free survival (RFS) rate was 16.7% (median RFS 7 months) in gallbladder cancer, 42.9% (median RFS 26.4 months) in intrahepatic cholangiocarcinoma, and 19.7% (median RFS 16.5 months) in perihilar cholangiocarcinoma, p = 0.166. At the multivariate analysis including clinical, pathological, and molecular features, the factors independently related to RFS were radicality of surgery (OR 2.050, CI 1.104-3.807, p = 0.023), LN status (OR 1.835, CI 1.006-3.348, p = 0.048), mutational status of ARID1A (OR 2.566, CI 1.174-5.608, p = 0.018), and TP53 (OR 2.805, CI 4.432-5.496, p = 0.003). ARID1A mutation was associated with a local and systemic recurrence in the 43% and 29% of cases, respectively; and TP53 mutation was associated with a local and systemic recurrence in the 29% and 41% of cases. Moreover, TP53 was most commonly mutated in tumor of patients with early recurrence, p = 0.044. ARID1A and TP53 mutations seem to be related to poor outcome after surgery and may be considered molecular predictors of the biological aggressiveness in BTC.