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通过大规模平行测序鉴定出的突变所推断出的治疗方法,在一些经过大量前期治疗的癌症患者中带来了临床益处。

Treatment inferred from mutations identified using massive parallel sequencing leads to clinical benefit in some heavily pretreated cancer patients.

作者信息

Zick Aviad, Peretz Tamar, Lotem Michal, Hubert Ayala, Katz Daniela, Temper Mark, Rottenberg Yakir, Uziely Beatrice, Nechushtan Hovav, Meirovitz Amichai, Sonnenblick Amir, Sapir Eli, Edelman David, Goldberg Yael, Lossos Alexander, Rosenberg Shai, Fried Iris, Finklstein Ruth, Pikarsky Eli, Goldshmidt Hanoch

机构信息

Sharett Institute of Oncology Leslie and Michael Gaffin Center for Oncology, Departments of Oncology and Neurology, Hebrew University-Hadassah Medical Center Department of Pediatrics, Hadassah Medical Center, Division of Pediatric Hematology and Oncology Lautenberg Center for Immunology, IMRIC, The Hebrew University-Hadassah Medical School Department of Pathology, Hebrew University-Hadassah Medical Center, Jerusalem, Israel.

出版信息

Medicine (Baltimore). 2017 May;96(20):e6931. doi: 10.1097/MD.0000000000006931.

Abstract

Molecular portraits of numerous tumors have flooded oncologists with vast amounts of data. In parallel, effective inhibitors of central pathways have shown great clinical benefit. Together, this promises potential clinical benefits to otherwise end-stage cancer patients. Here, we report a clinical service offering mutation detection of archived samples using the ion Ampliseq cancer panel coupled with clinical consultation.A multidisciplinary think tank consisting of oncologists, molecular-biologists, genetic counselors, and pathologists discussed 67 heavily pretreated, advanced cancer patient cases, taking into account mutations identified using ion Ampliseq cancer panel, medical history, and relevant literature.The team generated a treatment plan, targeting specific mutations, for 41 out of 64 cases. Three patients died before results were available. For 32 patients, the treating oncologists chose not to include the panel recommendation in the treatment plan for various reasons. Nine patients were treated as recommended by the panel, 5 with clinical benefit, and 4 with disease progression.This study suggests that routine use of massive parallel tumor sequencing is feasible and can judiciously affect treatment decisions when coupled with multidisciplinary team-based decision making. Administration of personalized based therapies at an earlier stage of disease, expansion of genetic alterations examined, and increased availability of targeted therapies may lead to further improvement in the clinical outcome of metastatic cancer patients.

摘要

众多肿瘤的分子图谱为肿瘤学家提供了海量数据。与此同时,关键信号通路的有效抑制剂已显示出巨大的临床益处。两者结合,有望为晚期癌症患者带来潜在的临床益处。在此,我们报告一项临床服务,即使用离子Ampliseq癌症检测板对存档样本进行突变检测并提供临床咨询。一个由肿瘤学家、分子生物学家、遗传咨询师和病理学家组成的多学科智囊团,在考虑使用离子Ampliseq癌症检测板鉴定出的突变、病史及相关文献的基础上,讨论了67例经过大量前期治疗的晚期癌症患者病例。该团队针对64例中的41例制定了针对特定突变的治疗方案。3例患者在结果出来之前死亡。对于32例患者,主治肿瘤学家因各种原因未将检测板的建议纳入治疗方案。9例患者按照检测板的建议接受了治疗,5例有临床获益,4例病情进展。本研究表明,常规使用大规模平行肿瘤测序是可行的,并且与基于多学科团队的决策相结合时能够明智地影响治疗决策。在疾病的早期阶段给予个性化治疗、扩大检测的基因改变范围以及增加靶向治疗的可及性,可能会进一步改善转移性癌症患者的临床结局。

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