# Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis and treatment in the molecular era

Source: https://onco.cc/key-papers/paper-erdheim-chester-disease-consensus-recommendations-blood-2020/  
OnCo record `paper-erdheim-chester-disease-consensus-recommendations-blood-2020` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

International experts set out how to diagnose Erdheim-Chester disease, which scans and mutation tests to do, and when to use BRAF and MEK inhibitors, interferon or other drugs.

## Summary

Consensus recommendations from an international group of histiocytosis specialists covering the clinical features, imaging (whole-body PET-CT, cardiac and brain MRI), biopsy and molecular testing (BRAF V600E and other MAPK pathway alterations), the decision to treat, and therapy: BRAF inhibitors for BRAF-mutant disease, MEK inhibitors for BRAF wild-type disease, interferon alfa and other options, with guidance on monitoring and long-term management.

It updates the 2014 recommendations for the targeted therapy era.

## Fields

- Kind: Key paper
- Last checked: 2026-09-18
- Journal: Blood
- Year: 2020
- DOI: 10.1182/blood.2019003507
- Authors: Goyal G, Heaney ML, Collin M, et al.
- What it means: The diagnostic and treatment rows on the Erdheim-Chester page follow these recommendations.
- Caveats: Expert consensus in a disease with a few hundred reported cases; randomised evidence does not exist.; Optimal duration of targeted therapy remains unknown.

## Sources

- Blood 2020: https://doi.org/10.1182/blood.2019003507
- PubMed: https://pubmed.ncbi.nlm.nih.gov/32187362/

## Connected records

- cancers: [Erdheim-Chester disease](https://onco.cc/cancers/erdheim-chester-disease/)
- drugs: [Cobimetinib](https://onco.cc/drugs/cobimetinib/), [Interferon alfa-2a/2b](https://onco.cc/drugs/interferon-alfa/), [Vemurafenib](https://onco.cc/drugs/vemurafenib/)
- journals: [Blood](https://onco.cc/journals/blood/)

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