# CD34‐Positive Acral Chondromyxoid Mesenchymal Neoplasm Harboring a Novel TCF4::ERG Fusion

**Authors:** Eric C. Honaker, Laura M. Warmke, Ameline Baptiste, Daniel Baumhoer, Esther Baranov, Eitan Halper‐Stromberg, Carina A. Dehner

PMC · DOI: 10.1002/gcc.70073 · Genes, Chromosomes & Cancer · 2025-08-12

## TL;DR

A new type of tumor in a young woman's finger was identified through a unique genetic fusion and specific cell markers.

## Contribution

Identification of a novel TCF4::ERG fusion in a rare acral mesenchymal neoplasm with CD34 positivity.

## Key findings

- The tumor exhibited a novel in-frame TCF4::ERG fusion in a 26-year-old female.
- CD34, ERG, and focal p63 were expressed in tumor cells.
- No metastasis or recurrence was observed after 3 months of follow-up.

## Abstract

Molecular testing has significantly transformed the field of anatomic pathology over the past several decades. Despite these advances, acral mesenchymal neoplasms remain diagnostically challenging, requiring careful integration of clinical presentation, histologic features, and molecular findings for accurate classification. Herein, we present a case of an acral chondromyxoid mesenchymal neoplasm harboring a novel in‐frame TCF4::ERG fusion involving the right index finger of a 26‐year‐old female. Morphologically, this tumor consisted of nests and sheets of monotonous small round‐to‐ovoid cells embedded in a background of chondromyxoid stroma and hyalinized collagen. The tumor cells were diffusely CD34, ERG, and focally p63 reactive, while S100 protein, cytokeratin AE1/AE3, Pan‐TRK, ALK, smooth muscle actin, and desmin were negative. Albeit short follow‐up (3 months), the patient continues to do well without evidence of metastasis or local recurrence.

## Linked entities

- **Genes:** TCF4 (transcription factor 4) [NCBI Gene 6925], ERG (ETS transcription factor ERG) [NCBI Gene 2078], RPE65 (retinoid isomerohydrolase RPE65) [NCBI Gene 6121], ALK (ALK receptor tyrosine kinase) [NCBI Gene 238], LOC101066771 (desmin-like) [NCBI Gene 101066771]

## Full-text entities

- **Genes:** ALK (ALK receptor tyrosine kinase) [NCBI Gene 238] {aka ALK1, CD246, NBLST3}, CD34 (CD34 molecule) [NCBI Gene 947], DES (desmin) [NCBI Gene 1674] {aka CDCD3, CSM1, CSM2, LGMD1D, LGMD1E, LGMD2R}, TP63 (tumor protein p63) [NCBI Gene 8626] {aka AIS, B(p51A), B(p51B), EEC3, KET, LMS}, NTRK1 (neurotrophic receptor tyrosine kinase 1) [NCBI Gene 4914] {aka MTC, TRK, TRK1, TRKA, Trk-A, p140-TrkA}, ERG (ETS transcription factor ERG) [NCBI Gene 2078] {aka LMPHM14, erg-3, p55}, ADA2 (adenosine deaminase 2) [NCBI Gene 51816] {aka ADGF, CECR1, IDGFL, PAN, SNEDS, VAIHS}
- **Diseases:** Acral Chondromyxoid Mesenchymal Neoplasm (MESH:C000721267), tumor (MESH:D009369), metastasis (MESH:D009362)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12340472/full.md

## References

25 references — full list in the complete paper: https://tomesphere.com/paper/PMC12340472/full.md

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Source: https://tomesphere.com/paper/PMC12340472