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Peer-reviewedCC BYGenes, chromosomes & cancer

Melanoma of the Scalp Harboring a Novel AGFG1::ERBB4 Fusion: A Case Report With Clinicopathologic and Genomic Characterization.

  • Xu Cao1
  • Hong Yu1
  • Kenneth L Muldrew1,2,3,4,5
  • Rachael M Johnson6
  • Li Liang1,2
  • Ying Pei1,2
  • Yve T Huttenbach1,2
  • C Cameron Yin7
  • Songlin Zhang1,2
7 affiliations
  1. 1Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas, USA.
  2. 2Department of Pathology and Laboratory Medicine, Ben Taub Hospital, Harris Health System, Houston, Texas, USA.
  3. 3School of Health Professions, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
  4. 4Department of Pathology and Laboratory Medicine, Michael E. DeBakey Veterans Affairs Medical Center, Houston, Texas, USA.
  5. 5Section of Infectious Diseases, Department of Medicine, Baylor College of Medicine, Houston, Texas, USA.
  6. 6School of Medicine, Baylor College of Medicine, Houston, Texas, USA.
  7. 7Department of Hematopathology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA.
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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.

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Cite

BibTeXRIS
BibTeX
@article{cao2026melanoma,
  title = {{Melanoma of the Scalp Harboring a Novel AGFG1::ERBB4 Fusion: A Case Report With Clinicopathologic and Genomic Characterization.}},
  author = {Xu Cao and Hong Yu and Kenneth L Muldrew and Rachael M Johnson and Li Liang and Ying Pei and Yve T Huttenbach and C Cameron Yin and Songlin Zhang},
  journal = {Genes, chromosomes \& cancer},
  year = {2026},
  month = oct,
  doi = {10.1002/gcc.70183},
  url = {https://europepmc.org/article/MED/42948860},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Melanoma of the Scalp Harboring a Novel AGFG1::ERBB4 Fusion: A Case Report With Clinicopathologic and Genomic Characterization.
AU  - Xu Cao
AU  - Hong Yu
AU  - Kenneth L Muldrew
AU  - Rachael M Johnson
AU  - Li Liang
AU  - Ying Pei
AU  - Yve T Huttenbach
AU  - C Cameron Yin
AU  - Songlin Zhang
PY  - 2026
DA  - 2026/10/01
JO  - Genes, chromosomes & cancer
DO  - 10.1002/gcc.70183
UR  - https://europepmc.org/article/MED/42948860
AB  - 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.
SN  - 1045-2257
SN  - 1098-2264
ER  -