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ArticleVirchows Archiv : an international journal of pathology2025

YAP1::MAML2, YAP1::NUTM1, and RNF13::PAK2 rearrangements in trichoblastomas and adnexal tumors with panfollicular differentiation: expanding the spectrum of YAP1/PAK-fused skin adnexal tumors.

Thibault Kervarrec, Nicolas Macagno, Aurelie Houlier, Daniel Pissaloux, Brice Thamphya, Baptiste Louveau, Samia Mourah, Maxence Mancini, Dmitry Kazakov, Kim Harnisch and 6 more

Abstract read
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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 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

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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

16 authors.

Thibault KervarrecDepartment of Pathology, Université de Tours, Centre Hospitalier Universitaire de Tours, Tours, France. thibaultkervarrec@yahoo.fr.ORCID http://orcid.org/0000-0002-2201-6914
Nicolas MacagnoCARADERM Network, Tours, France.
Aurelie HoulierDepartment of Biopathology, Center Léon Bérard, Lyon, France.
Daniel PissalouxDepartment of Biopathology, Center Léon Bérard, Lyon, France.
Brice ThamphyaDepartment of Biopathology, Center Léon Bérard, Lyon, France.
Baptiste LouveauDepartment of Pharmacology and Solid Tumor Genomics, Saint Louis Hospital, INSERM UMR-S 976 (Human Immunology Pathophysiology & Immunotherapy - HIPI), Team 1, Paris Cité University, AP-HP, Paris, 75010, France.
Samia MourahDepartment of Pharmacology and Solid Tumor Genomics, Saint Louis Hospital, INSERM UMR-S 976 (Human Immunology Pathophysiology & Immunotherapy - HIPI), Team 1, Paris Cité University, AP-HP, Paris, 75010, France.
Maxence ManciniDepartment of Pharmacology and Solid Tumor Genomics, Saint Louis Hospital, INSERM UMR-S 976 (Human Immunology Pathophysiology & Immunotherapy - HIPI), Team 1, Paris Cité University, AP-HP, Paris, 75010, France.
Dmitry KazakovIDP Dermatohistopathologie Institut, Pathologie Institut Enge, Zurich, Switzerland.
Kim HarnischMedica Laboratory, Zurich, Switzerland.
Franck TirodeDepartment of Biopathology, Center Léon Bérard, Lyon, France.
Gerardo CazzatoSection of Pathology, Department of Emergency and Organ Transplantation, University of Bari, Bari, 70121, Italy.
Pierre SohierCARADERM Network, Tours, France.
Arnaud de la FouchardièreDepartment of Biopathology, Center Léon Bérard, Lyon, France.
Maxime BattistellaCARADERM Network, Tours, France.
Eduardo CalonjeDepartment of Pathology, Saint-Louis University Hospital, Paris, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In 2019, YAP1::MAML2 and YAP1::NUTM1 rearrangements were demonstrated in the majority of poromas and in porocarcinomas. Recently, our group demonstrated recurrent fusions of PAK (p21 (RAC1) activated kinase) 1/2/3 genes in a subset of poromas and porocarcinomas frequently harboring hair follicle and sebaceous differentiation. To expand the spectrum of YAP1/PAK-fused tumors, we report six adnexal neoplasms with follicular differentiation with in frame YAP1::MAML2, YAP1::NUTM1, or RNF13::PAK2 fusion transcripts. Four cases of trichoblastoma and two neoplasms with panfollicular differentiation were included. Median age was 66 (range 39-76). Two patients were female. Tumors were located on the head (n = 4), chest (n = 1), or leg (n = 1). Microscopically, tumors were located in the dermis (n = 4) and/or subcutaneous tissue (n = 5), and showed macro (n = 6), micronodular (n = 5), and cystic (n = 4) structures. A delicate fibrillar stroma was present in 5 cases. Infundibulocystic structures, cell balls, and sebocytes were observed in 5, 1, and 3 cases, respectively. Immunohistochemistry revealed BerEP4 expression and Merkel cell hyperplasia in 5 and 2 cases, respectively. YAP1 (C-terminal) loss was observed in 5 cases. Accordingly YAP1::MAML2 (n = 2), YAP1::NUTM1 (n = 1), or RNF13::PAK2 (n = 1) inframe fusion transcripts were detected in the four trichoblastomas. YAP1::MAML2 fusions were also detected in the two tumors with panfollicular differentiation. In conclusion, we report six cases of follicular tumors with YAP1::MAML2, YAP1::NUTM1, or RNF13::PAK2 fusions and therefore suggest that in addition to poroid tumors, YAP1 and PAK2 fusions might be the oncogenic driver in a subset of adnexal tumors with prominent follicular differentiation.

Indexed as

Hair FollicleOncogene Proteins, Fusionp21-Activated KinasesSkin NeoplasmsYAP-Signaling ProteinsAdultAgedCell DifferentiationFemaleHumansMaleMiddle AgedNeoplasm ProteinsNuclear ProteinsTrans-ActivatorsUbiquitin-Protein LigasesMAML2 protein, humanNeoplasm ProteinsNuclear ProteinsNUTM1 protein, humanOncogene Proteins, Fusionp21-Activated KinasesPAK2 protein, humanRNF13 protein, humanTrans-ActivatorsUbiquitin-Protein LigasesYAP1 protein, humanYAP-Signaling ProteinsPAK2PanfolliculomaTrichoblastomaYAP1

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.