Evidence map›Paper›PMID 39344423›Full record

ArticleThe Journal of pathology2024

Expanding the clinicopathologic spectrum and genomic landscape of tumors with SMARCA2/4::CREM fusions.

Joanna Cyrta, Josephine K Dermawan, Arnault Tauziède-Espariat, Ting Liu, Marc Rosenblum, Seema Shroff, Nora Katabi, Liesbeth Cardoen, Delphine Guillemot, Julien Masliah-Planchon and 5 more

Abstract read
In one paragraph

Article in The Journal of pathology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Immunohistochemical evaluation of CREM in CREB-rearranged mesenchymal tumors and their mimics.Virchows Archiv : an international journal of pathology · 2025
    Article
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

15 authors.

Joanna CyrtaDepartment of Pathology, Institut Curie, PSL Research University, Paris, France.ORCID 0000-0002-0216-5330
Josephine K DermawanDepartment of Pathology and Laboratory Medicine, Cleveland Clinic, Cleveland, OH, USA.ORCID 0000-0002-1139-2914
Arnault Tauziède-EspariatDepartment of Neuropathology, GHU Paris Psychiatry and Neurosciences, Sainte-Anne Hospital, Paris, France.ORCID 0000-0002-9979-0297
Ting LiuDepartment of Pathology, University of Utah/ARUP Laboratories, Salt Lake City, UT, USA.
Marc RosenblumDepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Seema ShroffDepartment of Pathology, Advent Health, Orlando, FL, USA.
Nora KatabiDepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Liesbeth CardoenDepartment of Imaging, Institut Curie, Paris, France.
Delphine GuillemotGenetics Unit, Department of Tumor Biology, Institut Curie, PSL Research University, Paris, France.
Julien Masliah-PlanchonGenetics Unit, Department of Tumor Biology, Institut Curie, PSL Research University, Paris, France.
Owen HoareSIREDO Oncology Center (Care, Innovation and Research for Children and AYA with Cancer), Institut Curie, Paris Cité University, Paris, France.
Olivier DelattreGenetics Unit, Department of Tumor Biology, Institut Curie, PSL Research University, Paris, France.
Tejus BaleDepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Franck BourdeautSIREDO Oncology Center (Care, Innovation and Research for Children and AYA with Cancer), Institut Curie, Paris Cité University, Paris, France.ORCID 0000-0001-9489-6781
Cristina R AntonescuDepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4M
Targeting Oncogenic Pathways in Genetically Complex SarcomasP50CA217694 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI Marc Ladanyi · 2018 to 2026
$21.5M
Kristin Ann Carr FoundationNCI NIH HHS P30 CA008748NCI NIH HHS P50 CA217694
6 · The paper itself

Abstract

CREB gene family (ATF1, CREB1, CREM) fusions with either EWSR1 or FUS gene partners drive the pathogenesis of a wide range of neoplasms, including various soft tissue tumors, intracranial myxoid mesenchymal tumors (IMMTs), hyalinizing clear cell carcinoma (HCCC), and rare mesotheliomas. Recently, a SMARCA2::CREM fusion was reported in one case each of IMMT and HCCC. In this study, we expand the clinicopathologic and molecular spectrum of these neoplasms by describing three additional cases with SMARCA2::CREM and one with a novel SMARCA4::CREM fusion, highlighting the recurrent potential of additional CREB gene fusion partners beyond FET family members. To evaluate if these fusions define a new pathologic entity, we performed a comprehensive genomic and methylation analysis and compared the results to other related tumors. Tumors occurred in children and young adults (median age 20 years) and spanned a broad anatomic distribution, including soft tissue, intracranial, head and neck, and prostatic urethra. Microscopically, the tumors shared an undifferentiated round to epithelioid cell phenotype and a hyalinized fibrous stroma. Immunohistochemically, a polyphenotypic profile was observed, with variable expression of SOX10, desmin, and/or epithelial markers. No targetable genomic alterations were found using panel-based DNA sequencing. By DNA methylation and transcriptomic analyses, tumors grouped closely to FET::CREB entities, but not with SMARCA4/SMARCB1-deficient tumors. High expression of CREM by immunohistochemistry was also documented in these tumors. Patients experienced local recurrence (n = 2), locoregional lymph node metastases (n = 2), and an isolated visceral metastasis (n = 1). Overall, our study suggests that SMARCA2/4::CREM fusions define a distinct group of neoplasms with round cell to epithelioid histology, a variable immunoprofile, and a definite risk of malignancy. Larger studies are needed to further explore the pathogenetic relationship with the FET::CREB family of tumors. © 2024 The Pathological Society of Great Britain and Ireland.

Indexed as

Cyclic AMP Response Element ModulatorDNA HelicasesNuclear ProteinsTranscription FactorsAdolescentAdultBiomarkers, TumorChildDNA MethylationFemaleHumansMaleNeoplasmsOncogene Proteins, FusionSoft Tissue NeoplasmsYoung AdultBiomarkers, TumorCREM protein, humanCyclic AMP Response Element ModulatorDNA HelicasesNuclear ProteinsOncogene Proteins, FusionSMARCA2 protein, humanSMARCA4 protein, humanTranscription FactorsCREBCREMfusiongenomicsmethylationsarcomaSMARCA2SMARCA4

Identifiers

PMID39344423
PMCPMC12131337

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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.