Erdheim-Chester Disease — Variants & evidence

Erdheim-Chester Disease — Variants & evidence · CancerIndex

Variants & evidence

Curated clinical evidence by variant and therapy

4 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.

civicCuratedShowing 1–4 of 4 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
ARAF Mutation + ARAF P216A + ARAF S225V1
Cobimetinib	Predictive	B	Supports Sensitivity Response	4	submitted	EID11296 In an open-label, phase II trial, 18 patients with histiocytosis, including 12 patients with Erdheim-Chester disease, one patient with ARAF S225V, and one patient with ARAF P216A, of any mutational st… (full text at CIViC) PMID 30867592 · Diamond et al., 2019 · Open in CIViC	civic
BRAF Non-V6001
Cobimetinib	Predictive	B	Supports Sensitivity Response	4	submitted	EID11298 In an open-label, phase II trial, 18 patients with histiocytosis, including 12 patients with Erdheim-Chester disease with one patient having a non-V600 BRAF mutation, of any mutational status were enr… (full text at CIViC) PMID 30867592 · Diamond et al., 2019 · Open in CIViC	civic
BRAF V6001
Vemurafenib	Predictive	A	Supports Sensitivity Response	5	submitted	EID11237 In this histology-independent, phase 2, open-label study, 26 patients (22 with Erdheim-Chester disease (ECD) and 4 Langerhans cell histiocytosis (LCH)) were administered 960 mg, twice daily doses of v… (full text at CIViC) PMID 29188284 · Diamond et al., 2018 · Open in CIViC	civic
KRAS Mutation + MAP2K1 Mutation + MAP2K2 Mutation + NRAS Mutation + RAF1 MutationRAF1 MAP2K1 MAP2K2 KRAS NRAS1
Cobimetinib	Predictive	B	Supports Sensitivity Response	4	submitted	EID11328 In an open-label, phase II trial, 18 patients with histiocytosis of any mutational status were enrolled. The overall response rate was 89% (90% CI: 73 - 100). Responses were durable, with no acquired … (full text at CIViC) PMID 30867592 · Diamond et al., 2019 · Open in CIViC	civic

Data updated 22 hours agoSource updated unknownsource: civic (CC0)

Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.