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Updated: Mar 23, 2026

Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
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BRAFV600E Mutations in High-Grade Colorectal Neuroendocrine Tumors May Predict Responsiveness to BRAF-MEK Combination

Samuel J Klempner1, Bruce Gershenhorn2, Phu Tran3

  • 1Division of Hematology-Oncology, Department of Medicine, Chao Family Comprehensive Cancer Center, University of California, Irvine, School of Medicine, Orange, California. sklempner@theangelesclinic.org.

Cancer Discovery
|April 7, 2016
PubMed
Abstract

Insights

Advanced high-grade colorectal neuroendocrine tumors with BRAF V600E mutations show dramatic response to BRAF-MEK therapy. This targeted treatment offers new hope for patients with this aggressive cancer.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Neuroendocrine tumors (NETs) are a diverse group of cancers with varying clinical behaviors.
  • Poorly differentiated NETs are aggressive, have limited treatment options, and require novel therapeutic strategies.
  • BRAF V600E mutations are oncogenic drivers found in various cancers, including melanoma and colorectal cancer.

Observation:

  • This study identified recurrent BRAF V600E mutations in 9% of advanced high-grade colorectal neuroendocrine tumors.
  • BRAF V600E mutations constituted 80% of all identified BRAF alterations in the cohort.
  • Two patients with metastatic high-grade rectal neuroendocrine carcinoma, refractory to standard treatments, showed a dramatic response to BRAF-MEK combination therapy.

Findings:

  • The study represents the largest genomic profiling of colorectal neuroendocrine tumors to date.
  • BRAF V600E is confirmed as an oncogenic driver in a specific subset of colorectal neuroendocrine tumors.
  • Urinary BRAF V600E circulating tumor DNA monitoring effectively paralleled treatment response in patients.

Implications:

  • BRAF-MEK combination therapy demonstrates significant clinical efficacy in BRAF V600E-mutated high-grade colorectal neuroendocrine tumors.
  • Targeted therapy offers a promising new approach for patients with treatment-refractory advanced colorectal neuroendocrine tumors.
  • Genomic profiling and targeted therapies are crucial for advancing treatment strategies in rare and aggressive cancers.

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