Loaiza-Bonilla Arturo, Clayton Erica, Furth Emma, O'Hara Mark, Morrissette Jennifer
Abramson Cancer Center of the University of Pennsylvania, Perelman Center for Advanced Medicine, Civic Center Boulevard, Philadelphia, PA 19104, USA.
Ecancermedicalscience. 2014 Nov 6;8:479. doi: 10.3332/ecancer.2014.479. eCollection 2014.
This is the case of a 47-year-old woman diagnosed with chemotherapy and radiation-refractory BRAF V600E mutant, poorly differentiated intrahepatic cholangiocarcinoma (ICC), with multiple metastatic lesions within the liver, lungs, pleura, and bone, stage IV. Discussion of her malignancy's next-generation sequencing genomic information at a multidisciplinary molecular tumour board took place. The patient was considered a suitable candidate for dual BRAF and MEK inhibition, with the intent to prolong her survival and optimize the quality of life. We report her excellent tolerance and exceptional response to dual therapy with dabrafenib and trametinib, including symptomatic and sustained near-complete radiological improvement. We also briefly review the current knowledge of the genomics of cholangiocarcinoma with a focus on BRAF mutations, and make a point of the importance of the establishment of a molecular tumour board for personalized genomic medicine approaches. To our knowledge, this is the first reported case of the use of personalized genomic information for the successful management of a patient with ICC, and it is also the first description of dual BRAF and MEK targeted therapy in this malignancy, leading to what is considered an exceptional response.
这是一名47岁女性的病例，她被诊断为患有化疗和放疗难治性的BRAF V600E突变型低分化肝内胆管癌（ICC），肝脏、肺、胸膜和骨骼内有多处转移病灶，处于IV期。在多学科分子肿瘤委员会对其恶性肿瘤的二代测序基因组信息进行了讨论。该患者被认为是双重BRAF和MEK抑制治疗的合适候选者，目的是延长其生存期并优化生活质量。我们报告了她对达拉非尼和曲美替尼联合治疗具有良好的耐受性和出色的反应，包括症状性和持续性的近乎完全的影像学改善。我们还简要回顾了胆管癌基因组学的当前知识，重点关注BRAF突变，并强调了建立分子肿瘤委员会以采用个性化基因组医学方法的重要性。据我们所知，这是第一例报道使用个性化基因组信息成功治疗ICC患者的病例，也是首例描述在这种恶性肿瘤中双重BRAF和MEK靶向治疗并导致堪称出色反应的病例。
