# Recurrent BRAF mutations in Langerhans cell histiocytosis

Source: https://onco.cc/key-papers/paper-badalian-very-braf-mutations-lch-blood-2010/  
OnCo record `paper-badalian-very-braf-mutations-lch-blood-2010` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

More than half of Langerhans cell histiocytosis samples carried the same BRAF V600E mutation seen in melanoma, settling a long argument by showing the disease is a clonal neoplasm and opening it to targeted therapy.

## Summary

Genotyping of 61 archived LCH samples with a mass-spectrometric cancer mutation panel found BRAF V600E in 35 (57 percent), across ages and sites, with no other recurrent oncogene mutations detected; the mutation was confirmed by immunohistochemistry and was present in the pathological CD1a-positive cells.

## Fields

- Kind: Key paper
- Last checked: 2026-09-18
- Journal: Blood
- Year: 2010
- DOI: 10.1182/blood-2010-04-279083
- Authors: Badalian-Very G, Vergilio JA, Degar BA, et al.
- Findings: BRAF V600E in 35 of 61 LCH samples (57 percent).
- What it means: LCH is a MAPK-pathway-driven neoplasm; BRAF testing is now routine and BRAF and MEK inhibitors are used for refractory disease.
- Caveats: Archived samples; later work found MAP2K1 and other MAPK alterations in most BRAF wild-type cases.; Mutation status did not clearly predict outcome in this series.

## Sources

- Blood 2010: https://doi.org/10.1182/blood-2010-04-279083
- PubMed: https://pubmed.ncbi.nlm.nih.gov/20519626/

## Connected records

- cancers: [Multisystem Langerhans cell histiocytosis (with or without risk-organ involvement)](https://onco.cc/cancers/lch-multisystem/), [Single-system Langerhans cell histiocytosis (bone, skin or one other organ)](https://onco.cc/cancers/lch-single-system/)
- journals: [Blood](https://onco.cc/journals/blood/)

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