APC-Mutated MUC4-Positive Fibroblastoma With Cytoplasmic β-Catenin: A Novel Variant Expanding Its Immunophenotypic Spectrum

MUC4-positive fibroblastoma is a newly characterized fibroblastic neoplasm, typically presenting as a bland spindle cell tumor with diffuse cytoplasmic MUC4 expression, nuclear β‑catenin positivity, and <i>APC</i> gene alterations. We report a novel case in a 34-year-old woman demonstrating diffuse cytoplasmic MUC4 expression but negative cytoplasmic β‑catenin staining, with molecular confirmation of biallelic <i>APC</i> inactivation. This finding broadens the known immunophenotypic spectrum of MUC4-positive fibroblastoma and challenges current assumptions regarding β‑catenin localization in <i>APC</i>-altered soft tissue tumors. Additional clinical, radiologic, and long-term follow-up data may help refine our understanding of the biological behavior and diagnostic boundaries of this emerging entity.

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Journal
Cureus
Published
2026-01-29
DOI
https://doi.org/10.7759/cureus.102576
Primary Topic
Soft tissue tumor case studies
Type
article
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article

APC-Mutated MUC4-Positive Fibroblastoma With Cytoplasmic β-Catenin: A Novel Variant Expanding Its Immunophenotypic Spectrum

Amanda A. Onalaja-Underwood, Rana Naous
Cureus
Soft tissue tumor case studies
article

APC-Mutated MUC4-Positive Fibroblastoma With Cytoplasmic β-Catenin: A Novel Variant Expanding Its Immunophenotypic Spectrum

Amanda A. Onalaja-Underwood, Rana Naous
article en

Abstract

MUC4-positive fibroblastoma is a newly characterized fibroblastic neoplasm, typically presenting as a bland spindle cell tumor with diffuse cytoplasmic MUC4 expression, nuclear β‑catenin positivity, and <i>APC</i> gene alterations. We report a novel case in a 34-year-old woman demonstrating diffuse cytoplasmic MUC4 expression but negative cytoplasmic β‑catenin staining, with molecular confirmation of biallelic <i>APC</i> inactivation. This finding broadens the known immunophenotypic spectrum of MUC4-positive fibroblastoma and challenges current assumptions regarding β‑catenin localization in <i>APC</i>-altered soft tissue tumors. Additional clinical, radiologic, and long-term follow-up data may help refine our understanding of the biological behavior and diagnostic boundaries of this emerging entity.

CureusVol. 18(1)
The Ohio State University Wexner Medical Center (US)
Good health and well-being
Openalex Percentile: Top 75%
Soft tissue tumor case studies
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APC-Mutated MUC4-Positive Fibroblastoma With Cytoplasmic β-Catenin: A Novel Variant Expanding Its Immunophenotypic Spectrum — Amanda A. Onalaja-Underwood, Rana Naous · Cureus (2026) | TGRS Research Map | TGRS