Cutaneous Juvenile Xanthogranuloma With <scp> <i>MRC1::PDGFRB</i> </scp> Gene Fusion: A Case Report
Juvenile xanthogranulomas (JXGs) are benign solitary or multiple lesions that present as yellow-red nodules on the skin or other organs, with histology demonstrating normolipidemic, non-Langerhans cell histiocytosis. We present a case of a clinically atypical lesion shown to be of the JXG family of lesions following pathologic review. Next-generation sequencing (NGS) analysis revealed a MRC1::PDGFRB gene fusion. This is the third report of the MRC1::PDGFRB gene fusion identified in JXG, and the first case of an isolated cutaneous lesion, which highlights the spectrum of the MRC1::PDGFRB gene fusion in JXG.
Authors
- Katayoon Shayan (ORCID: https://orcid.org/0000-0002-4129-4012)
- Dawn Z. Eichenfield (ORCID: https://orcid.org/0000-0002-1511-3804)
- Somak Roy (ORCID: https://orcid.org/0000-0002-5681-0112)
- Jennifer Picarsic (ORCID: https://orcid.org/0000-0002-3718-6422)
- A. Han (ORCID: https://orcid.org/0000-0001-6702-5163)
- Maria Gnarra Buethe (ORCID: https://orcid.org/0000-0002-3872-1415)
- Angelina Labib (ORCID: https://orcid.org/0000-0003-3277-6631)
- Xochitl Longstaff
Institutions
- Cincinnati Children's Hospital Medical Center (US)
- University of Miami (US)
- University of California, Los Angeles (US)
- University of Pittsburgh (US)
- University of California San Diego (US)
- Rady Children's Hospital-San Diego (US)
- Children's Hospital of Pittsburgh (US)
- University of Cincinnati Medical Center (US)
Publication Details
- Journal
- Pediatric Dermatology
- Published
- 2025-07-19
- DOI
- https://doi.org/10.1111/pde.16037
- Citations
- 1
- Primary Topic
- Histiocytic Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.16