Work

Epithelioid Fibrous Histiocytoma (EFH) With Rare PPFIBP1-ALK Fusion: A Predominantly Spindle Cell Variant Within the Emerging Spectrum of Myxoid Spindle Cell EFH

Year: 2025

Type: article

Abstract: Epithelioid fibrous histiocytoma (EFH) is a benign fibrohistiocytic neoplasm characterized by morphologic heterogeneity and recurrent anaplastic lymphoma kinase (ALK) gene rearrangements. We present a rare case of EFH located on the lateral neck of a 56-year-old male patient, demonstrating a predominantly spindle cell morphology. Immunohistochemical analysis revealed granular cytoplasmic positivity for ALK, along with expression of CD68, CD4, epithelial membrane antigen, caldesmon, and smooth muscle actin. Next-generation sequencing confirmed the presence of a rare PPFIBP1-ALK fusion. The presented case highlights a predominantly spindle cell variant of EFH and suggests inclusion within the recently described myxoid spindle cell EFH spectrum, which encompasses the superficial ALK-rearranged myxoid spindle cell neoplasms (SAMS).

Source: Cureus

DOI: 10.7759/cureus.86361

Authors: Eli P Oldham, Svetlana Bobkova, Patti Loykasek, Jennifer Roberts, Igor Shendrik

Institution: Oklahoma State University Center for Health Sciences

Language: English

Topic: Sarcoma Diagnosis and Treatment

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4411448403