Evidence map›Paper›PMID 40036344›Full record

ArticleThe British journal of dermatology2025

Congenital melanocytic naevi initiated by BRAF fusion oncogene with firmness, pruritus and desmoplastic stroma.

Simon F Roy, Nnenna G Agim, Adnan Mir, Kasey L Couts, Travis Vandergriff, William A Robinson, Boris C Bastian, Ilona J Frieden, Iwei Yeh

Abstract readCase ReportsMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in The British journal of dermatology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Gene fusions in melanocytic lesions: an updated comprehensive review.Journal of pathology and translational medicine · 2026
    Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Simon F RoyDepartment of Dermatology, Yale School of Medicine, New Haven, CT, USA.
Nnenna G AgimNorth Dallas Dermatology Associates, Dallas, TX, USA.
Adnan MirDermpath Diagnostics New York, White Plains, NY, USA.
Kasey L CoutsDepartment of Medicine, Division of Medical Oncology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Travis VandergriffDepartment of Dermatology, University of Texas Southwestern, Dallas, TX, USA.
William A RobinsonDepartment of Medicine, Division of Medical Oncology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Boris C BastianDepartment of Dermatology, University of California in San Francisco, San Francisco, CA, USA.
Ilona J FriedenDepartment of Dermatology, University of California in San Francisco, San Francisco, CA, USA.
Iwei YehDepartment of Dermatology, University of California in San Francisco, San Francisco, CA, USA.ORCID 0000-0002-3941-3561

Funding

Molecular and immunologic evolution of melanomas from pre-neoplastic lesionsR35CA220481 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BASTIAN, BORIS C. · 2017 to 2023
$6.3M
Pre-cancer atlas of skin cancerU01CA294536 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BASTIAN, BORIS C., SHAIN, ALAN HUNTER · 2024 to 2025
$5.2M
Canadian Institute of Health Research CIHR 490134Fonds de Recherche du Québec en Santé FRQS 329696Melanoma Research Alliance 1154713National Cancer Institute at the National Institutes of Health 1R35CA220481NCI NIH HHS R35 CA220481NCI NIH HHS U01 CA294536
6 · The paper itself

Abstract

backgroundLarge and giant congenital melanocytic naevi (CMN) present a risk for developing melanoma or neurocutaneous melanosis. Most CMN are caused by NRAS or, less commonly, BRAF mutations.

objectivesTo present a series of patients with large-to-giant CMN with BRAF fusion genes as driver alterations and describe their unique clinical presentation.

methodsWe retrospectively identified five patients, from three academic institutions, with giant CMN harbouring BRAF fusion genes. We analysed tumour DNA using capture-based next-generation sequencing.

resultsFour of five patients with giant CMN harbouring a BRAF fusion gene exhibited thousands of satellite naevi, many with significant pruritus, nodularity and firmness. One patient developed neurocutaneous melanosis. Histopathology showed marked stromal desmoplasia, akin to the changes observed in acquired melanocytic naevi with BRAF fusion genes. Notably, one patient responded to the MEK inhibitor trametinib, demonstrating the potential therapeutic advantage of genetic characterization of these lesions.

conclusionsCMN with BRAF fusion genes appear to have unique clinical features and may be associated with numerous satellite lesions. Marked desmoplasia is a histopathological feature that can point to an underlying BRAF fusion gene.

Indexed as

Nevus, PigmentedOncogene Proteins, FusionProto-Oncogene Proteins B-rafSkin NeoplasmsAdolescentAdultChildFemaleHumansMalePruritusPyridonesPyrimidinonesRetrospective StudiesYoung AdultBRAF protein, humanOncogene Proteins, FusionProto-Oncogene Proteins B-rafPyridonesPyrimidinonestrametinib

Identifiers

PMID40036344
PMCPMC12268035

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.