Efficacy of Combined Dabrafenib and Trametinib Therapy in <i>BRAFV600E</i> Mutant Intrahepatic Cholangiocarcinoma with a Neurofibromatosis Type 2 Mutation

We herein report a 41-year-old woman with BRAFV600E-mutated intrahepatic cholangiocarcinoma and a concurrent loss of function in NF2. The patient had a large liver tumor, multiple lymph nodes, and metastases to the lungs and pleura. She underwent six cycles of gemcitabine, cisplatin, and durvalumab but was refractory to this treatment. Comprehensive genomic profiling revealed a BRAFV600E mutation along with a loss of function in NF2. The patient was treated with a combination of oral dabrafenib and trametinib therapy. After two months, imaging showed reduced pleural effusion, tumor shrinkage, symptom resolution, and improved performance status, without significant side effects.

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Publication Details

Journal
Internal Medicine
Published
2025-04-28
DOI
https://doi.org/10.2169/internalmedicine.5141-24
Primary Topic
Cholangiocarcinoma and Gallbladder Cancer Studies
Type
article
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article

Efficacy of Combined Dabrafenib and Trametinib Therapy in BRAFV600E Mutant Intrahepatic Cholangiocarcinoma with a Neurofibromatosis Type 2 Mutation

Riku Ino, Takumi Ito, Yuki Sako, Keiji Sugiyama et al.
Internal Medicine
Cholangiocarcinoma and Gallbladder Cancer Studies
article

Efficacy of Combined Dabrafenib and Trametinib Therapy in BRAFV600E Mutant Intrahepatic Cholangiocarcinoma with a Neurofibromatosis Type 2 Mutation

Riku Ino, Takumi Ito, Yuki Sako, Keiji Sugiyama, Yuhei Yamaguchi, Seira Owaki, Hiroyoshi Hattori, Jumpei Yoshida, Mariko Satoh, Kyoko Kato, Masaaki Shimada, Chiyoe Kitagawa, Kazuhiro Shiraishi, Ryosuke Emi
article en

Abstract

We herein report a 41-year-old woman with BRAFV600E-mutated intrahepatic cholangiocarcinoma and a concurrent loss of function in NF2. The patient had a large liver tumor, multiple lymph nodes, and metastases to the lungs and pleura. She underwent six cycles of gemcitabine, cisplatin, and durvalumab but was refractory to this treatment. Comprehensive genomic profiling revealed a BRAFV600E mutation along with a loss of function in NF2. The patient was treated with a combination of oral dabrafenib and trametinib therapy. After two months, imaging showed reduced pleural effusion, tumor shrinkage, symptom resolution, and improved performance status, without significant side effects.

Internal MedicineVol. 64(21)
National Cancer Center Hospital East (JP), Nagoya Medical Center (JP)
Good health and well-being
Openalex Percentile: Top 84%
Cholangiocarcinoma and Gallbladder Cancer Studies
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