{
  "abstract": "ERBB4 (HER4) gain-of-function missense mutations have been implicated in cutaneous melanoma. In contrast, structural rearrangements involving ERBB4 are exceedingly rare. We describe a 59-year-old man with a rapidly enlarging 4.2-cm melanoma of the scalp with high-risk pathologic features, including epithelioid to plasmacytoid cytomorphology, ulceration, brisk mitotic activity, and microscopic satellitosis. RNA sequencing identified a novel in-frame AGFG1::ERBB4 fusion joining AGFG1 exon 2 to ERBB4 exon 2. The ERBB4 portion retains the downstream coding sequence, including the tyrosine kinase domain. Concurrent molecular alterations included a pathogenic NF1 loss-of-function alteration, a TERT promoter mutation, CDK4 and STAT6 copy-number gains, and TP53 copy-number loss in a BRAF/NRAS/KIT-wild-type background.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas, USA.",
    "Department of Pathology and Laboratory Medicine, Ben Taub Hospital, Harris Health System, Houston, Texas, USA.",
    "School of Health Professions, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.",
    "Department of Pathology and Laboratory Medicine, Michael E. DeBakey Veterans Affairs Medical Center, Houston, Texas, USA.",
    "Section of Infectious Diseases, Department of Medicine, Baylor College of Medicine, Houston, Texas, USA.",
    "School of Medicine, Baylor College of Medicine, Houston, Texas, USA.",
    "Department of Hematopathology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA."
  ],
  "article_type": "brief report",
  "arxiv": null,
  "author_total": 9,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Xu Cao",
      "orcid": "0000-0003-1796-2735"
    },
    {
      "affs": [
        0
      ],
      "name": "Hong Yu"
    },
    {
      "affs": [
        0,
        1,
        2,
        3,
        4
      ],
      "name": "Kenneth L Muldrew"
    },
    {
      "affs": [
        5
      ],
      "name": "Rachael M Johnson",
      "orcid": "0009-0001-3224-8823"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Li Liang",
      "orcid": "0009-0000-0259-5333"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Ying Pei",
      "orcid": "0009-0000-4223-6204"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Yve T Huttenbach"
    },
    {
      "affs": [
        6
      ],
      "name": "C Cameron Yin",
      "orcid": "0000-0001-6630-4128"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Songlin Zhang",
      "orcid": "0009-0004-3811-2099"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/54g7xt8cjmgx2.bib",
  "cited_by": 0,
  "doi": "10.1002/gcc.70183",
  "fulltext_url": "https://europepmc.org/articles/PMC13714607",
  "id": "54g7xt8cjmgx2",
  "issns": [
    "1045-2257",
    "1098-2264"
  ],
  "landing_url": "https://europepmc.org/article/MED/42948860",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Brief Report"
    ],
    [
      "openalex",
      "1312|Melanoma and MAPK Pathways"
    ]
  ],
  "openalex": "W7224116028",
  "pdf_url": "https://europepmc.org/articles/PMC13714607?pdf=render",
  "pmcid": "PMC13714607",
  "pmid": "42948860",
  "published": "2026-10-01",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/54g7xt8cjmgx2.ris",
  "sources": [
    {
      "first_seen": "2026-10-31T00:20:35Z",
      "native_id": "MED:42948860",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42948860"
    },
    {
      "first_seen": "2026-11-01T12:22:04Z",
      "native_id": "PMC13714607",
      "source": "pmc",
      "url": "https://doi.org/10.1002/gcc.70183"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Melanoma and MAPK Pathways",
      "subfield": "molecular-biology"
    }
  ],
  "title": "Melanoma of the Scalp Harboring a Novel AGFG1::ERBB4 Fusion: A Case Report With Clinicopathologic and Genomic Characterization.",
  "title_text": "Melanoma of the Scalp Harboring a Novel AGFG1::ERBB4 Fusion: A Case Report With Clinicopathologic and Genomic Characterization.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-01T12:22:04Z",
  "url": "https://research.draconitic.com/paper/54g7xt8cjmgx2",
  "venue": "Genes, chromosomes & cancer",
  "versions": []
}