# Case report and diagnostic implications of misdiagnosis of pericardial myxoid liposarcoma by multimodal imaging

**Authors:** Juan Wang, Xi-Jun Zhu, Li-Xia Sun, Yu-Ling Song, Lai Wu, Yun-Long Cao, Xin-Yu Xue, Dong Wang, Qian Liu

PMC · DOI: 10.3389/fcvm.2025.1685844 · 2025-10-09

## TL;DR

A rare case of pericardial myxoid liposarcoma was misdiagnosed using imaging alone, highlighting the need for histopathology and molecular testing for accurate diagnosis.

## Contribution

This case emphasizes the limitations of multimodal imaging in diagnosing rare sarcomas and advocates for integrating clinical history and molecular pathology.

## Key findings

- Imaging features of pericardial myxoid liposarcoma can mimic benign tumors, leading to diagnostic errors.
- Histopathology and molecular testing confirmed metastatic myxoid liposarcoma despite non-specific imaging findings.
- Clinical history of prior sarcoma is crucial for accurate diagnosis of rare tumors in atypical locations.

## Abstract

Myxoid liposarcoma (MLPS) typically occurs in the extremities. Pericardial involvement is exceptionally rare and usually indicates metastatic disease. Because of their non-specific imaging features, such lesions are often mistaken for benign tumors, leading to diagnostic errors. This report describes the case of a 69-year-old woman who presented with chest tightness and had a history of gluteal MLPS. Multimodal imaging (CT, ultrasound, MRI) revealed a pericardial mass. Although features such as well-circumscribed margins and delayed contrast filling suggested a benign-appearing lesion rather than enabling a definitive diagnosis, the clinical history of the patient strongly favored metastatic MLPS. Imaging alone could not provide a definitive diagnosis, highlighting the challenge posed by overlapping features between benign and malignant cardiac masses. The final diagnosis relied on histopathology and molecular testing. Postoperative immunohistochemistry revealed a spindle cell tumor with myxoid stroma (S-100 negative, MDM2 weakly positive). Molecular pathology confirmed the diagnosis by detecting the FUS-DDIT3 fusion gene, establishing metastatic MLPS. This case underscores the critical limitations of imaging in reaching a definitive diagnosis and emphasizes that accurate classification necessitates integration with histopathological and molecular analyses. An optimized diagnostic strategy should incorporate a comprehensive review of clinical history—especially any prior sarcoma—maintain heightened vigilance for overlapping imaging features of rare sarcomas in atypical locations, and include molecular pathology to effectively prevent misdiagnosis.

## Linked entities

- **Genes:** FUS (FUS RNA binding protein) [NCBI Gene 2521], DDIT3 (DNA damage inducible transcript 3) [NCBI Gene 1649], MDM2 (MDM2 proto-oncogene) [NCBI Gene 4193]
- **Proteins:** S100A1 (S100 calcium binding protein A1)
- **Diseases:** myxoid liposarcoma (MONDO:0013280), sarcoma (MONDO:0005089)

## Full-text entities

- **Genes:** FUS (FUS RNA binding protein) [NCBI Gene 2521] {aka ALS6, ETM4, FUS1, HNRNPP2, POMP75, TLS}, S100A1 (S100 calcium binding protein A1) [NCBI Gene 6271] {aka S100, S100-alpha, S100A}, DDIT3 (DNA damage inducible transcript 3) [NCBI Gene 1649] {aka AltDDIT3, C/EBPzeta, CEBPZ, CHOP, CHOP-10, CHOP10}, MDM2 (MDM2 proto-oncogene) [NCBI Gene 4193] {aka ACTFS, HDMX, LSKB, hdm2}
- **Diseases:** benign tumors (MESH:D009369), sarcoma (MESH:D012509), MLPS (MESH:D018208), cardiac masses (MESH:D006331), pericardial mass (MESH:C536030)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12546078/full.md

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Source: https://tomesphere.com/paper/PMC12546078