Evidence map›Paper›PMID 41315062›Full record

ArticleVirchows Archiv : an international journal of pathology2025

Novel HSPA8-NR4A2 rearrangement in extraskeletal myxoid chondrosarcoma: a sarcoma mimicker of neuroendocrine neoplasia.

Sabina Barresi, Roberto Passa, Silvia Vallese, Evelina Miele, Sara Patrizi, Carla Rabitti, Bruno Vincenzi, Sergio Valeri, Francesca Diomedi Camassei, Angelo Minucci and 4 more

Abstract read
PubMed Publisher
In one paragraph

Article in Virchows Archiv : an international journal of 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.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Sabina BarresiPathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID http://orcid.org/0000-0002-7307-388X
Roberto PassaSarcoma Surgery, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy.ORCID http://orcid.org/0000-0002-1119-4643
Silvia VallesePathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID http://orcid.org/0000-0001-6342-065X
Evelina MieleOnco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID http://orcid.org/0000-0002-4747-1032
Sara PatriziOnco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID http://orcid.org/0000-0003-1898-1516
Carla RabittiAnatomical Pathology Operative Research Unit, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy.ORCID http://orcid.org/0000-0003-3074-5153
Bruno VincenziMedical Oncology Operative Research Unit, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy.ORCID http://orcid.org/0000-0001-8222-9025
Sergio ValeriSarcoma Surgery, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy.ORCID http://orcid.org/0000-0002-0747-831X
Francesca Diomedi CamasseiPathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID http://orcid.org/0000-0003-2829-2407
Angelo MinucciDepartmental Unit of Molecular and Genomic Diagnostics/Genomics Research Core Facility, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.ORCID http://orcid.org/0000-0002-0833-4334
Marco PieraccioliDepartment of Neuroscience, Section of Human Anatomy, Università Cattolica del Sacro Cuore, Rome, Italy.ORCID http://orcid.org/0000-0003-3995-535X
Claudio SetteDepartment of Neuroscience, Section of Human Anatomy, Università Cattolica del Sacro Cuore, Rome, Italy.ORCID http://orcid.org/0000-0003-2864-8266
Rita AlaggioPathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID http://orcid.org/0000-0003-3915-3816
Guido RindiSection of Anatomic Pathology, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy. guido.rindi@unicatt.it.ORCID http://orcid.org/0000-0003-2996-4404

Funding

Ministero della Salute 5X1000 202405_INNOVALAGGIOUniversità Cattolica del Sacro Cuore D1 line R4124501150
6 · The paper itself

Abstract

Extraskeletal myxoid chondrosarcoma (EMC) is a rare mesenchymal neoplasm of uncertain differentiation associating with diagnostic NR4A3 gene rearrangements. An unusual case of EMC harboring the novel HSPA8::NR4A2 gene fusion and neuroendocrine phenotype is described. The tumor exhibited a lobular architecture, myxoid stroma, and epithelioid tumor cells with a complete neuroendocrine phenotype by specific immunohistochemistry and transmission electron microscopy. The lesions showed a low tumor mutational burden (1.9 muts/Mb), a microsatellite stable status, no cancer driver gene mutations, no canonical NR4A3 fusion and low copy number variation. A novel in-frame fusion between HSPA8 (exon 2) and NR4A2 (exon 3) was identified by RNA-sequencing and methylation analysis placed the lesion into the EMC class (0.99 score). Transcriptome cluster comparative analysis placed its expression profile close to pancreas neuroendocrine tumors. This case suggests NR4A2 as a functionally substitute for NR4A3 in tumorigenesis and a neuroendocrine lineage differentiation for a subset of EMC.

Indexed as

Extraskeletal Myxoid ChondrosarcomaINSM1NeuroendocrineNR4A2SSTR2

Identifiers

PMID41315062

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.