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CTNNB1 mutation-driven hybrid tumor: desmoid fibromatosis with an unusual associated epithelioid component arising in association with a neuromuscular choristoma

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Abstract

CTNNB1 mutations play important roles in the development of soft tissue tumors, such as desmoid fibromatosis (DF), sinonasal tract angiofibroma, sinonasal glomangiopericytoma, intranodal palisaded myofibroblastoma, neuromuscular choristoma (NMC), and the recently reported pseudoendocrine sarcoma. Here, we report a unique hybrid soft tissue tumor with classic DF, unusual epithelioid component, and NMC in a 23-year-old female. The classic DF and NMC and the unusual epithelioid component and NMC were locally intermixed and closely related to each other. Immunohistochemically, the DF, unusual epithelioid component, and NMC exhibited nuclear positivity for β-catenin to varying degrees. More critically, all of the above components harbored identical CTNNB1 p.Ser45Pro missense mutations. To the best of our knowledge, this is the only reported CTNNB1 mutation-driven hybrid tumor with DF, unusual epithelioid component, and NMC. The present case further confirmed that CTNNB1-mutational soft tissue tumors are highly heterogeneous, but the morphological spectrum is wide and consecutive.

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Data Availability

The datasets used during the current study are available from the corresponding author upon reasonable request.

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Funding

This work was supported by the National Natural Science Foundation of China (No. 81972520).

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  1. Xuanxuan Zheng and **n He contributed equally to this work.

Authors and Affiliations

  1. Department of Pathology, West China Hospital, Sichuan University, GuoXue**ang 37, Chengdu, 610041, Sichuan, China

    Xuanxuan Zheng, **n He, Yang Lu, Chang Chen & Hongying Zhang

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  1. Xuanxuan Zheng
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  2. **n He
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  3. Yang Lu
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  4. Chang Chen
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  5. Hongying Zhang
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Contributions

XZ collected the clinicopathological data, performed the histopathological examinations and molecular detection and prepared the manuscript. XH performed the histopathological examinations, analyzed the molecular data, and prepared the manuscript. YL analyzed the molecular data. CC performed the molecular detection. HZ was responsible for the diagnosis, study design, and the manuscript revision.

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Correspondence to Hongying Zhang.

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Zheng, X., He, X., Lu, Y. et al. CTNNB1 mutation-driven hybrid tumor: desmoid fibromatosis with an unusual associated epithelioid component arising in association with a neuromuscular choristoma. Virchows Arch 484, 715–720 (2024). https://doi.org/10.1007/s00428-023-03729-w

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