Fibroblastic and Myofibroblastic Soft-Tissue Tumors: Imaging Spectrum                     and Radiologic-Pathologic Correlation

Haseli, Sara; Mansoori, Bahar; Christensen, Diana; MD, None Alireza B. Abadi,; Pooyan, Atefe; Zadeh, Firoozeh Shomal; Mau, Brian; Khalili, Nastaran; Murphey, Mark D.; Chalian, Majid

doi:10.1148/rg.230005

Cited by 2 publications

(1 citation statement)

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“…The histologic diagnosis may be challenging due to morphologic overlap among entities such as myofibroma and nodular fasciitis. 1,2 The implementation of NGS-based approaches in the characterization of superficial mesenchymal lesions has expanded the morphological spectrum of well-known tumors such as Dermatofibrosarcoma protuberans and contributed to defining new entities such as epithelioid fibrous histiocytoma with ALK translocations. 3,4 In 2020, Papke and Fletcher described plexiform myofibroblastoma (PM) as a new entity within the spectrum of superficial fibroblastic/myofibroblastic tumors.…”

Section: Introductionmentioning

confidence: 99%

Identification of a novel SH3PXD2B::FER fusion in a case of plexiform myofibroblastic tumor and review of the literature

Vallese,

Tancredi,

Giovannoni

et al. 2024

Genes Chromosomes & Cancer

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Fibroblastic/myofibroblastic tumors encompass a wide spectrum of lesions. Among them, plexiform myofibroblastoma (PM) represents a rare and distinctive entity recently described as mostly occurring in children and with a favorable prognosis. Histologically, PM shows SMA, CD34, and desmin expression in most cases, while it is negative for β‐catenin and S100. To date, the molecular mechanisms underlying PM tumorigenesis remain largely unknown. Herein, we describe a 7‐year‐old girl with a myofibroblastic lesion with plexiform features arising in the right deltoid region. The tumor proved positive for SMA staining, in absence of desmin, CD34, S100, and EMA expression. RNAseq analysis revealed a novel in‐frame SH3PXD2B::FER fusion gene. The FER gene encodes a cytoplasmic tyrosine kinase which is implicated in several biologically aggressive tumors, where it is overexpressed and associated with EGFR recycling and stabilization. In our case, immunohistochemical analysis revealed a strong positivity for EGFR indicating an upregulation of EGFR transcription that might correlate with the novel chimeric protein involving the FER kinase domain. To our knowledge, the SH3PXD2B::FER fusion has never been reported previously. Whether the current case represents an example of a plexiform myofibroblastic tumor or a distinct tumor entity remains to be determined.

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