医学
微卫星不稳定性
肝内胆管癌
内科学
ROS1型
分子诊断学
IDH1
肿瘤科
分子生物标志物
分子标记
胃肠病学
生物信息学
基因
腺癌
突变
微卫星
癌症
遗传学
等位基因
生物
作者
Julia Purchla,Elie Ghabi,William R. Burns,Kelly J. Lafaro,Richard A. Burkhart,John L. Cameron,Mark Yarchoan,Christopher R. Shubert,Marina Baretti,Jin He
标识
DOI:10.1097/xcs.0000000000000948
摘要
Introduction: Molecular profiling of intrahepatic cholangiocarcinoma (ICC) can detect actionable molecular alterations and guide targeted therapies. We explore the clinical utility of molecular profiling of ICC in our comprehensive multidisciplinary clinic. Methods: Patients with a tissue diagnosis of ICC seen between 2019 and 2023 were identified. A retrospective review was performed to identify their molecular profiles and targeted therapy. The association between the detection of actionable molecular alterations and overall survival (OS) from the first clinic visit date was studied. Patients with an OS of less than two months were excluded. Results: Among 194 ICC patients, 125 had molecular profiling. Actionable molecular alterations were detected in 56 (45%) patients, including microsatellite instability (n=3), high tumor mutational burden (TMB > 10 muts/Mb) (n=5), IDH1/2 mutations (n=22 and n=6, respectively), BRAF V600E mutations (n=2), PIK3CA mutations (n=7), BRCA1/2 mutations (n=5), MET amplification (n=2), FGFR2/3 fusions (n=13), ERBB2 overexpression (n=6), and ROS1 fusion (n=1). Twenty-one patients received targeted therapies during their treatment course. Survival analysis revealed that for 120 patients with molecular profiling, the detection of an actionable molecular alteration was associated with improved mean OS (34.1 vs. 23.6 months, p=0.008). Among 70 patients with non-metastatic ICC, the detection of an actionable molecular alteration was associated with improved mean OS (32.1 vs. 27.5 months, p=0.02). Conclusion: Actionable molecular alterations were frequently observed in patients with ICC. Detection of actionable alterations was associated with improved OS. The role of targeted therapy needs further exploration in prospective multi-center studies.
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