SOX2 Is a Potential Diagnostic Biomarker and Anticancer Target in Cutaneous Squamous Cell Carcinoma in Dystrophic Epidermolysis Bullosa: A Case Series Study.

Clara Harrs, Marieke Bolling, Peter van den Akker, Bart Koopman, Barbara Horváth, Gilles Diercks, Léon van Kempen

Abstract readCase Reports

In one paragraph

Article in JID innovations : skin science from molecules to population health, 2026. 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

7 authors.

Clara HarrsCenter for Blistering Diseases, Department of Pathology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Marieke BollingCenter for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Peter van den AkkerCenter for Blistering Diseases, Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Bart KoopmanCenter for Blistering Diseases, Department of Pathology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Barbara HorváthCenter for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Gilles DiercksCenter for Blistering Diseases, Department of Pathology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Léon van KempenCenter for Blistering Diseases, Department of Pathology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A serious complication in epidermolysis bullosa (EB), particularly in recessive dystrophic EB, is the development of aggressive cutaneous squamous cell carcinoma with a high risk for metastasis and poor survival outcomes. The current standard of care is insufficient, and there is a critical need for safe and effective management options for this life-threatening complication in EB. Moreover, the pathophysiologic processes behind the aggressiveness of EB-associated cutaneous squamous cell carcinoma (EB-cSCC) remain elusive. Especially little is known about genetic drivers specific for EB-cSCC, and information about the molecular profile of these highly malignant tumors could lead to novel insights about the underlying pathogenesis. In addition, EB-associated pseudoepitheliomatous hyperplasia (EB-PEH) is difficult to distinguish from EB-cSCC histologically and could be a premalignant precursor of EB-cSCC. Therefore, the aim of this study was to conduct gene expression profiling to detect potentially diagnostic biomarkers and anticancer targets in EB-cSCC and explore the potential role of EB-PEH in the tumorigenesis of EB-cSCC. We performed mRNA expression analysis and immunohistochemistry on formalin-fixed, paraffin-embedded tissue samples of EB-cSCCs (n = 8), non-EB-cSCCs (n = 10), and EB-PEHs (n = 7). The results revealed upregulation of

Indexed as

Anticancer targetBiomarkerCutaneous squamous cell carcinomaEpidermolysis bullosaSOX2

Identifiers

PMID41189680

DOI10.1016/j.xjidi.2025.100417

PMCPMC12581759

What OpenQuestion holds

Textmetadata

LicenceCC BY

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.