SOX10-Internal Tandem Duplications and PLAG1 or HMGA2 Fusions Segregate Eccrine-Type and Apocrine-Type Cutaneous Mixed Tumors.

Autor:	Macagno N; CARADERM, French Network of Rare Skin Cancers, Lille, France; Department of Pathology, APHM, Timone, Marseille, France; Aix Marseille University, INSERM, MMG, Marseille, France. Electronic address: nicolas.macagno@ap-hm.fr., Kervarrec T; CARADERM, French Network of Rare Skin Cancers, Lille, France; Department of Pathology, Université de Tours, Centre Hospitalier Universitaire de Tours, Tours, France; 'Biologie des infections à polyomavirus' team, UMR INRA ISP 1282, Université de Tours, Tours, France., Thanguturi S; Department of Pathology, « Institut d'histopathologie, Tours, France., Sohier P; Department of Pathology, Hôpital Cochin, AP-HP. Centre-Université Paris Cité, Paris, France., Pissaloux D; Department of Biopathology, Centre Léon Bérard, Lyon, France; Université de Lyon, Université Claude Bernard Lyon 1, INSERM 1052, CNRS 5286, Centre Léon Bérard, Cancer Research Center of Lyon, Equipe Labellisée Ligue contre le Cancer, Lyon, France., Mescam L; Department of Biopathology, Paoli-Calmettes Institute, Marseille, France., Jullie ML; Department of Pathology, University Hospital of Bordeaux, Bordeaux, France., Frouin E; Department of Pathology, University Hospital of Poitiers, University of Poitiers, LITEC, Poitiers, France., Osio A; National Center of Dermatopathology, Paris-la Roquette, Ivry, France; Department of Pathology, HCL Lyon-Sud Hospital, Lyon, France., Faisant M; Cypath, Villeurbanne, France., Le Loarer F; Department of Biopathology, Bergonié Institute, Bordeaux, France; Bordeaux Institute of Oncology, BRIC U1312, INSERM, Université de Bordeaux, Institut Bergonié, Bordeaux, France., Cribier B; Department of Dermatology, University of Strasbourg, Strasbourg, France., Calonje E; Department of Dermatopathology, St John's institute of Dermatology, Guy's and St Thomas' NHS trust, London, United Kingdom., Luna EVE; Department of Dermatopathology, St John's institute of Dermatology, Guy's and St Thomas' NHS trust, London, United Kingdom., Massi D; Section of Pathology, Department of Health Sciences, University of Florence, Florence, Italy., Goto K; Department of Diagnostic Pathology, Faculty of Medicine, Oita, Japan., Nishida H; Department of Diagnostic Pathology, Faculty of Medicine, Oita, Japan., Paindavoine S; Department of Biopathology, Centre Léon Bérard, Lyon, France., Houlier A; Department of Biopathology, Centre Léon Bérard, Lyon, France., Tantot J; Department of Pathology, HCL Lyon-Sud Hospital, Lyon, France., Benzerdjeb N; Department of Pathology, HCL Lyon-Sud Hospital, Lyon, France., Tirode F; Department of Biopathology, Centre Léon Bérard, Lyon, France; Université de Lyon, Université Claude Bernard Lyon 1, INSERM 1052, CNRS 5286, Centre Léon Bérard, Cancer Research Center of Lyon, Equipe Labellisée Ligue contre le Cancer, Lyon, France., De la Fouchardière A; Department of Biopathology, Centre Léon Bérard, Lyon, France; Université de Lyon, Université Claude Bernard Lyon 1, INSERM 1052, CNRS 5286, Centre Léon Bérard, Cancer Research Center of Lyon, Equipe Labellisée Ligue contre le Cancer, Lyon, France., Battistella M; CARADERM, French Network of Rare Skin Cancers, Lille, France; Department of Pathology, AP-HP Hospital Saint-Louis, INSERM U976, Université Paris Cité, Paris, France.
Jazyk:	angličtina
Zdroj:	Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc [Mod Pathol] 2024 Mar; Vol. 37 (3), pp. 100430. Date of Electronic Publication: 2024 Jan 23.
DOI:	10.1016/j.modpat.2024.100430
Abstrakt:	Cutaneous mixed tumors exhibit a wide morphologic diversity and are currently classified into apocrine and eccrine types based on their morphologic differentiation. Some cases of apocrine-type cutaneous mixed tumors (ACMT), namely, hyaline cell-rich apocrine cutaneous mixed tumors (HCR-ACMT) show a prominent or exclusive plasmacytoid myoepithelial component. Although recurrent fusions of PLAG1 have been observed in ACMT, the oncogenic driver of eccrine-type cutaneous mixed tumors (ECMT) is still unknown. The aim of the study was to provide a comprehensive morphologic, immunohistochemical, and molecular characterization of these tumors. Forty-one cases were included in this study: 28 cases of ACMT/HCR-ACMT and 13 cases of ECMT. After morphologic and immunohistochemical characterization, all specimens were analyzed by RNA sequencing. By immunohistochemistry, all cases showed expression of SOX10, but only ACMT/HCR-ACMT showed expression of PLAG1 and HMGA2. RNA sequencing confirmed the presence of recurrent fusion of PLAG1 or HMGA2 in all cases of ACMT/HCR-ACMT, with a perfect correlation with PLAG1/HMGA2 immunohistochemical status, and revealed internal tandem duplications of SOX10 (SOX10-ITD) in all cases of ECMT. Although TRPS1::PLAG1 was the most frequent fusion, HMGA2::WIF1 and HMGA2::NFIB were detected in ACMT cases. Clustering analysis based on gene expression profiling of 110 tumors, including numerous histotypes, showed that ECMT formed a distinct group compared with all other tumors. ACMT, HCR-ACMT, and salivary gland pleomorphic adenoma clustered together, whereas myoepithelioma with fusions of EWSR1, FUS, PBX1, PBX3, POU5F1, and KLF17 formed another cluster. Follow-up showed no evidence of disease in 23 cases across all 3 tumor types. In conclusion, our study demonstrated for the first time SOX10-ITD in ECMT and HMGA2 fusions in ACMT and further refined the prevalence of PLAG1 fusions in ACMT. Clustering analyses revealed the transcriptomic distance between these different tumors, especially in the heterogenous group of myoepitheliomas. (Copyright © 2024 United States & Canadian Academy of Pathology. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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