Abstract
Pseudoendocrine sarcoma (PES) is a recently described neoplasm typically arising in paravertebral soft tissues. Histologically, PES resembles well-differentiated neuroendocrine tumors but lacks expression of epithelial/neuroendocrine markers, and most show aberrant nuclear β-catenin positivity. We describe the clinicopathological and molecular features and DNA methylation profile of one PES. A resected paraspinal soft tissue mass in a 52-year-old man showed a neuroendocrine-like neoplasm, negative for keratin, and synaptophysin and showing diffuse nuclear β-catenin expression. Targeted NGS confirmed a CTNNB1 (p.S37C) mutation. Whole genome methylation analysis showed no match to any methylation class in the central nervous system tumor (versions 11b6 and 12b6) or sarcoma classifier (calibrated scores of ≤0.3), but clustered together with a recently reported PES in which methylation analysis was also performed. He remained disease-free for 18 months after surgery, followed by chemoradiation. As more cases are examined, our findings suggest that PES may have a unique methylation profiling signature.
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The study was supported by the Mayo Clinic institutional funding (IRB #21-9003).
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M. Adelita Vizcaino, Caterina Giannini, and Andrew L. Folpe contributed to the study conception and design. Material preparation, data collection, and analysis were performed by M. Adelita Vizcaino, Caterina Giannini, Andrew L. Folpe, Henry Huffman, Ripul R. Panchal, G. Petur Nielsen, Benjamin R. Kipp, Rust Turakulov, and Kenneth Aldape. The first draft of the manuscript was written by M. Adelita Vizcaino, and all authors commented on previous versions of the manuscript.
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Vizcaino, M.A., Folpe, A.L., Huffman, H. et al. Pseudoendocrine sarcoma: clinicopathologic, molecular, and epigenetic features of one case. Virchows Arch 483, 899–904 (2023). https://doi.org/10.1007/s00428-023-03695-3
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DOI: https://doi.org/10.1007/s00428-023-03695-3