Evidence map›Paper›PMID 40419820›Full record

ArticleBrain tumor pathology2025

Intraspinal ASPSCR1::TFE3 rearranged tumor with nerve differentiation.

Yue-E Wang, Wei Wang, An-Li Zhang, Yuan Li, Sibai Sun, Wenchao Zhou, Haibo Wu

Abstract readCase Reports
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In one paragraph

Article in Brain tumor pathology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Yue-E Wang *Department of Pathology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230036, Anhui, China.
Wei Wang *Department of Pathology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230036, Anhui, China.
An-Li ZhangDepartment of Pathology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230036, Anhui, China.
Yuan LiIntelligent Pathology Institute, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230001, Anhui, China.
Sibai SunDepartment of Pathology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230036, Anhui, China.
Wenchao ZhouIntelligent Pathology Institute, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230001, Anhui, China. WZAZ@ustc.edu.cn.
Haibo WuDepartment of Pathology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230036, Anhui, China. wuhaibo@ustc.edu.cn.ORCID http://orcid.org/0000-0003-0817-9191

Funding

Natural Science Foundation of Anhui Province 2308085MH272Research Funds of Centre for Leading Medicine and Advanced Technologies of IHM 2023IHM01043Scientific Research Project of Anhui Provincial Education Department 2023AH040404
6 · The paper itself

Abstract

The ASPSCR1::TFE3 rearrangement has been described in alveolar soft part sarcoma, MiT family translocation renal cell carcinomas as well as perivascular epithelioid cell tumors (PEComas). However, this rearrangement has not been reported in the primary spinal canal. Here, we report a case of an 18-year-old male who had pain in his left lower limb for 2 months. Neuroimaging revealed a lesion in the spinal canal from thoracic 12 to lumbar 1. Histopathological examination showed the tumor consisting of nested architectural pattern with abundant psammomatous calcification. Tumor cells exhibited strong and diffuse positivity for TFE3 and SOX10, patchy positivity for HMB-45 and S100, while other immunomarkers were negatively stained. RNA sequencing confirmed the ASPSCR1::TFE3 gene rearrangement. The Heidelberg DNA methylation classifier classified this case as "Cranial and Paraspinal Nerve Tumor". This case may represent a novel intraspinal neoplasm entity that expands the spectrum of ASPSCR1::TFE3-rearranged neoplasms by unique histopathological features and potential neural differentiation. We named this case as intraspinal ASPSCR1::TFE3 rearranged tumor with SOX10 expression.

Indexed as

Basic Helix-Loop-Helix Leucine Zipper Transcription FactorsGene RearrangementAdolescentCell DifferentiationHumansIntracellular Signaling Peptides and ProteinsMaleSOXE Transcription FactorsASPSCR1 protein, humanBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsIntracellular Signaling Peptides and ProteinsSOX10 protein, humanSOXE Transcription FactorsTFE3 protein, humanASPSCR1IntraspinalPEComasSOX10TFE3

Identifiers

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.