Department of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Foundation Medicine Business Department, Foundation Medicine Unit, Chugai Pharmaceutical Co., Ltd, Tokyo, Japan.
Surg Today. 2021 Apr;51(4):619-626. doi: 10.1007/s00595-020-02123-2. Epub 2020 Sep 4.
The aim of this study was to investigate the genetic mutation profiles of Japanese pancreatic ductal adenocarcinoma (PDAC) patients.
Next-generation sequencing was performed using FoundationOne® CDx on 17 PDAC patients who were treated by surgical resection at Kyushu University Hospital between February 2016 and January 2019. The tumor mutational burden and microsatellite instability status were also assessed.
There were 16 patients (94%) with KRAS mutations, 13 (76%) with TP53 mutations, three (18%) with SMAD4 mutations, and one (6%) with a CDKN2A mutation. All patients had at least one pathogenic variant or a likely pathogenic variant. No patient had targeted therapies that matched with any clinical benefit according to FoundationOne® CDx. An unresectable PDAC patient with BRCA2-mutant disease was successfully treated by conversion surgery using platinum-based neoadjuvant chemotherapy.
Currently, FoundationOne® CDx might be difficult to use on PDAC patients, although further investigations with larger study populations are called for.
本研究旨在调查日本胰腺导管腺癌(PDAC)患者的基因突变谱。
2016 年 2 月至 2019 年 1 月,九州大学医院对 17 名接受手术切除治疗的 PDAC 患者使用 FoundationOne® CDx 进行下一代测序。还评估了肿瘤突变负担和微卫星不稳定性状态。
16 名患者(94%)存在 KRAS 突变,13 名患者(76%)存在 TP53 突变,3 名患者(18%)存在 SMAD4 突变,1 名患者(6%)存在 CDKN2A 突变。所有患者均至少存在一种致病性或可能致病性变异。根据 FoundationOne® CDx,没有患者有与任何临床获益相匹配的靶向治疗药物。一名不可切除的 PDAC 患者患有 BRCA2 突变疾病,通过使用铂类新辅助化疗进行转化手术成功治疗。
目前,尽管需要更大的研究人群进行进一步研究,但 FoundationOne® CDx 可能难以用于 PDAC 患者。