The rare BRAF VK600-601E mutation as a possible indicator of poor prognosis in rectal carcinoma - A report of a case

Yoshiko Mori, Takeshi Nagasaka, Hideyuki Mishima, Yuzo Umeda, Ryo Inada, Hiroyuki Kishimoto, Ajay Goel, Toshiyoshi Fujiwara

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Background: 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). Case presentation: 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. Conclusions: 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.

Original languageEnglish
Article number1
JournalBMC Medical Genetics
Volume16
Issue number1
DOIs
Publication statusPublished - Jan 31 2015

Fingerprint

Carcinoma
Mutation
Colorectal Neoplasms
irinotecan
oxaliplatin
Leucovorin
Fluorouracil
Survival
Neoplasm Staging
Rectal Neoplasms
Colonic Neoplasms
Adenocarcinoma
Radiation
Therapeutics
Neoplasms

Keywords

  • BRAF mutation
  • BRAF VK600-601E
  • Chemotherapy
  • Prognosis
  • Rectal cancer

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

The rare BRAF VK600-601E mutation as a possible indicator of poor prognosis in rectal carcinoma - A report of a case. / Mori, Yoshiko; Nagasaka, Takeshi; Mishima, Hideyuki; Umeda, Yuzo; Inada, Ryo; Kishimoto, Hiroyuki; Goel, Ajay; Fujiwara, Toshiyoshi.

In: BMC Medical Genetics, Vol. 16, No. 1, 1, 31.01.2015.

Research output: Contribution to journalArticle

Mori, Yoshiko ; Nagasaka, Takeshi ; Mishima, Hideyuki ; Umeda, Yuzo ; Inada, Ryo ; Kishimoto, Hiroyuki ; Goel, Ajay ; Fujiwara, Toshiyoshi. / The rare BRAF VK600-601E mutation as a possible indicator of poor prognosis in rectal carcinoma - A report of a case. In: BMC Medical Genetics. 2015 ; Vol. 16, No. 1.
@article{1fe854ad40d44ad9af8e0bb78734099f,
title = "The rare BRAF VK600-601E mutation as a possible indicator of poor prognosis in rectal carcinoma - A report of a case",
abstract = "Background: 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). Case presentation: 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. Conclusions: 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.",
keywords = "BRAF mutation, BRAF VK600-601E, Chemotherapy, Prognosis, Rectal cancer",
author = "Yoshiko Mori and Takeshi Nagasaka and Hideyuki Mishima and Yuzo Umeda and Ryo Inada and Hiroyuki Kishimoto and Ajay Goel and Toshiyoshi Fujiwara",
year = "2015",
month = "1",
day = "31",
doi = "10.1186/s12881-015-0144-7",
language = "English",
volume = "16",
journal = "BMC Medical Genetics",
issn = "1471-2350",
publisher = "BioMed Central",
number = "1",

}

TY - JOUR

T1 - The rare BRAF VK600-601E mutation as a possible indicator of poor prognosis in rectal carcinoma - A report of a case

AU - Mori, Yoshiko

AU - Nagasaka, Takeshi

AU - Mishima, Hideyuki

AU - Umeda, Yuzo

AU - Inada, Ryo

AU - Kishimoto, Hiroyuki

AU - Goel, Ajay

AU - Fujiwara, Toshiyoshi

PY - 2015/1/31

Y1 - 2015/1/31

N2 - Background: 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). Case presentation: 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. Conclusions: 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.

AB - Background: 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). Case presentation: 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. Conclusions: 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.

KW - BRAF mutation

KW - BRAF VK600-601E

KW - Chemotherapy

KW - Prognosis

KW - Rectal cancer

UR - http://www.scopus.com/inward/record.url?scp=84923855542&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84923855542&partnerID=8YFLogxK

U2 - 10.1186/s12881-015-0144-7

DO - 10.1186/s12881-015-0144-7

M3 - Article

C2 - 25636897

AN - SCOPUS:84923855542

VL - 16

JO - BMC Medical Genetics

JF - BMC Medical Genetics

SN - 1471-2350

IS - 1

M1 - 1

ER -