Related Experiment Video
Updated: May 12, 2026
10:16
Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
Published on: October 8, 2015
Targeting the BRAF V600E mutation in multiple myeloma.
Mindaugas Andrulis1, Nicola Lehners, David Capper
1Department of General Pathology, Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
Cancer Discovery
|April 25, 2013
Summary
Activating BRAF V600E mutations in multiple myeloma are linked to worse outcomes. A patient with refractory disease showed durable response to BRAF inhibitor vermurafenib, highlighting a new therapeutic target.
Area of Science:
- Oncology
- Genetics
- Pharmacology
Background:
- Limited progress in targeted therapies for multiple myeloma.
- Recent whole-genome sequencing identified BRAF V600E mutations in a subset of patients.
Purpose of the Study:
- To investigate the clinical relevance of BRAF V600E mutations in multiple myeloma.
- To assess the prognostic and therapeutic impact of this mutation.
Main Methods:
- Correlation of BRAF V600E mutation status with disease outcome in 379 myeloma patients.
- Whole-genome sequencing of primary tumor samples.
- Case study of a patient with relapsed myeloma treated with vermurafenib.
Main Results:
- BRAF V600E mutation carriers showed a higher incidence of extramedullary disease and shorter overall survival.
- A patient with refractory, relapsed myeloma and BRAF V600E mutation achieved rapid, durable response to vermurafenib.
- Evidence for BRAF V600E mutation development during clonal evolution.
Conclusions:
- BRAF V600E mutation has prognostic significance in multiple myeloma.
- BRAF V600E is a targetable mutation, offering a potential therapeutic strategy for a subset of patients.
- Targeted inhibition with BRAF inhibitors like vermurafenib shows promise in refractory myeloma.
Related Concept Videos
02:57Targeted Cancer Therapies
The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against specific...
There are several types of targeted therapies against specific...
02:50Combination Therapies and Personalized Medicine
Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
02:23Abnormal Proliferation
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...