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ArticleVirchows Archiv : an international journal of pathology2025

Molecular analysis of apocrine mixed tumors and cutaneous myoepitheliomas: a comparative study confirming a continuous spectrum of one entity with near-ubiquitous PLAG1 and rare mutually exclusive HMGA2 gene rearrangements.

Boulos Mansour, Michele Donati, Tamás Pancsa, Petr Grossman, Petr Šteiner, Tomáš Vaněček, Kateřina Comová, Michal Michal, Michael Michal

Abstract readComparative Study
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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. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
–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

6 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. S1 guideline sweat gland carcinoma.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2026
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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

9 authors.

Boulos MansourDepartment of Pathology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic. boulosmansour@gmail.com.
Michele DonatiDepartment of Pathology, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo, 200-00128, Roma, Italy.
Tamás PancsaDepartment of Pathology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.
Petr GrossmanDepartment of Pathology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.
Petr ŠteinerDepartment of Pathology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.
Tomáš VaněčekDepartment of Pathology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.
Kateřina ComováDepartment of Pathology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.
Michal MichalDepartment of Pathology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.
Michael MichalDepartment of Pathology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.

Funding

Cooperation program SURGMinistry of Education, Czech Republic (BM) SVV 260652
6 · The paper itself

Abstract

Myoepithelial neoplasms of the skin and soft tissue still represent a confusing and somewhat controversial field in pathology as it appears that this category includes several different entities. However, recent studies have suggested that both apocrine mixed tumors (AMT) and cutaneous myoepitheliomas (CM) harbor identical chromosomal rearrangements involving the PLAG1 gene and hence may represent a morphological spectrum. The aim of the present study was to share our institutional experience with these tumors and specifically focus on studying their immunohistochemical and molecular features to further assess their relatedness. Eleven cases of AMT and 7 cases of CM were collected and analyzed using immunohistochemistry (IHC), PLAG1 FISH, and Archer FusionPlex assay. There were 14 male and 4 female patients with ages ranging from 26 to 85 years (median 55.8 years, mean 58.5 years). AMTs were mainly located in the head and neck (n = 10), while CMs were mainly located in the acral sites (n = 5). PLAG1 IHC was diffusely strongly positive in 14/17 (82%) cases, whereas a single case of AMT diffusely expressed HMGA2. Both tumor groups showed PLAG1 gene fusions which were detected in 6/13 analyzable samples (AMT, n = 4 and CM, n = 2), and included TRPS1::PLAG1 (n = 3), NDRG1::PLAG1 (n = 1), CTNNB1::PLAG1 (n = 1) and a novel PXDNL::PLAG1 fusion (n = 1). The remaining 5 cases were negative, 5 were not analyzable and the single case positive for HMGA2 by IHC revealed a potential HMGA2 gene rearrangement. The cases were further studied by FISH, with 12/17 cases showing PLAG1 gene rearrangement (AMT, n = 8 and CM, n = 4). Altogether, 14/18 cases showed PLAG1 gene rearrangement by at least one of the methods. PLAG1 immunohistochemistry had a 92% specificity and sensitivity. Our study provided additional data to suggest that AMT and CM share overlapping morphological and immunohistochemical features as well as molecular background characterized by PLAG1 gene fusions and thus represent a morphological spectrum. In addition, we identified a novel PXDNL::PLAG1 fusion and suggested that rare cases may harbor HMGA2 gene alterations which seem to be mutually exclusive with PLAG1 gene fusions. The relatedness of these tumors to salivary gland myoepithelial neoplasms and distinctness from eccrine mixed tumors and other skin and soft tissue myoepithelial neoplasms with EWSR1/FUS fusions is discussed.

Indexed as

Apocrine GlandsBiomarkers, TumorDNA-Binding ProteinsGene RearrangementHMGA2 ProteinMyoepitheliomaSkin NeoplasmsSweat Gland NeoplasmsAdultAgedAged, 80 and overFemaleHumansImmunohistochemistryIn Situ Hybridization, FluorescenceMaleBiomarkers, TumorDNA-Binding ProteinsHMGA2 ProteinHMGA2 protein, humanPLAG1 protein, humanApocrine mixed tumorsCutaneous myoepitheliomasHMGA2Myoepithelial neoplasmPLAG1Targeted RNA sequencing

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.