A Rare Case of <i>CIC‐DUX4</i> Sarcoma in a Mediastinal Lymph Node Diagnosed by Fine Needle Aspiration Cytology

CIC-rearranged sarcomas (CDS) are rare, aggressive undifferentiated small round cell tumors recently classified as a distinct entity by the World Health Organization. These tumors are defined by CIC gene fusions, most commonly CIC::DUX4, and are associated with poor prognoses and diagnostic challenges, particularly in limited cytological samples. We report the case of a 37-year-old male who presented with respiratory symptoms and was found to have mediastinal lymphadenopathy. Fine-needle aspiration (FNA) of a right paratracheal lymph node revealed hypercellular smears of dyscohesive tumor cells with high nuclear-to-cytoplasmic ratios, prominent nucleoli, and cytoplasmic vacuoles. Immunohistochemistry showed positivity for WT1, CD99, and vimentin, while RNA sequencing confirmed a CIC::DUX4 fusion, establishing the diagnosis of CDS. This case highlights the critical role of integrating cytopathology, immunohistochemistry, and molecular diagnostics in identifying CDS, particularly in atypical anatomical sites. Early and accurate diagnosis is essential for guiding clinical management in this rare and aggressive sarcoma subtype.

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Publication Details

Journal
Diagnostic Cytopathology
Published
2025-10-29
DOI
https://doi.org/10.1002/dc.70038
Primary Topic
Sarcoma Diagnosis and Treatment
Type
article
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article

A Rare Case of CIC‐DUX4 Sarcoma in a Mediastinal Lymph Node Diagnosed by Fine Needle Aspiration Cytology

Elham Nasri, FNU Mahjabin, Alexandra De Leo, Catherine Gonsalves et al.
Diagnostic Cytopathology
Sarcoma Diagnosis and Treatment
article

A Rare Case of CIC‐DUX4 Sarcoma in a Mediastinal Lymph Node Diagnosed by Fine Needle Aspiration Cytology

Elham Nasri, FNU Mahjabin, Alexandra De Leo, Catherine Gonsalves, Tara Hajarat
article en

Abstract

CIC-rearranged sarcomas (CDS) are rare, aggressive undifferentiated small round cell tumors recently classified as a distinct entity by the World Health Organization. These tumors are defined by CIC gene fusions, most commonly CIC::DUX4, and are associated with poor prognoses and diagnostic challenges, particularly in limited cytological samples. We report the case of a 37-year-old male who presented with respiratory symptoms and was found to have mediastinal lymphadenopathy. Fine-needle aspiration (FNA) of a right paratracheal lymph node revealed hypercellular smears of dyscohesive tumor cells with high nuclear-to-cytoplasmic ratios, prominent nucleoli, and cytoplasmic vacuoles. Immunohistochemistry showed positivity for WT1, CD99, and vimentin, while RNA sequencing confirmed a CIC::DUX4 fusion, establishing the diagnosis of CDS. This case highlights the critical role of integrating cytopathology, immunohistochemistry, and molecular diagnostics in identifying CDS, particularly in atypical anatomical sites. Early and accurate diagnosis is essential for guiding clinical management in this rare and aggressive sarcoma subtype.

Diagnostic CytopathologyVol. 54(1)
University of Florida (US), Florida College (US)
Openalex Percentile: Top 55%
Sarcoma Diagnosis and Treatment
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