Mori Yoshiko, Nagasaka Takeshi, Mishima Hideyuki, Umeda Yuzo, Inada Ryo, Kishimoto Hiroyuki, Goel Ajay, Fujiwara Toshiyoshi
Department of Gastroenterological Surgery, Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Sciences, 2-5-1 Shikata-cho, Kita-ku, Okayama, 700-8558, Japan.
Cancer Center, Aichi Medical University, 1-1 Yazakokarimata, Nagakute City, Aichi, 480-1195, Japan.
BMC Med Genet. 2015 Jan 31;16:1. doi: 10.1186/s12881-015-0144-7.
The BRAF V600E mutation is reportedly associated with inferior survival among colon cancer patients. Here we report a patient with rectal cancer who carried the novel BRAF mutation VK600-601E, which has analogous molecular functions to those of the conventional BRAF mutation V600E, and may have potential as a prognostic marker for colorectal cancer (CRC).
The present 65-year-old male patient was diagnosed with recurrent rectal adenocarcinoma (stage II by AJCC TNM staging 7th edition) 14 months after surgery and was treated with modified FOLFOX6 (fluorouracil, leucovorin, and oxaliplatin), radiation, and FOLFIRI (fluorouracil, leucovorin, and irinotecan). The tumor progressed before further treatment could be initiated, resulting in death after 15 months. This survival period was similar to the median overall survival among patients with metastatic CRC and BRAF mutations who were treated with the FOLFIRI regimen with or without cetuximab.
Thus, the BRAF VK600-601E mutation may lead to an aggressive clinical course in CRC patients suffering from rapid progression and potential resistance to multiple therapeutic modalities.
据报道，BRAF V600E突变与结肠癌患者较差的生存率相关。在此，我们报告1例携带新型BRAF突变VK600 - 601E的直肠癌患者，该突变与传统BRAF突变V600E具有相似的分子功能，可能具有作为结直肠癌（CRC）预后标志物的潜力。
该65岁男性患者术后14个月被诊断为复发性直肠腺癌（美国癌症联合委员会第7版TNM分期为II期），接受了改良FOLFOX6（氟尿嘧啶、亚叶酸钙和奥沙利铂）、放疗及FOLFIRI（氟尿嘧啶、亚叶酸钙和伊立替康）治疗。在能够开始进一步治疗前肿瘤进展，15个月后死亡。该生存期与接受FOLFIRI方案联合或不联合西妥昔单抗治疗的转移性CRC且有BRAF突变患者的总生存期中位数相似。
因此，BRAF VK600 - 601E突变可能导致CRC患者出现侵袭性临床病程，表现为快速进展以及对多种治疗方式潜在耐药。
