Recurrent PAK2 rearrangements in poroma with folliculo-sebaceous differentiation.

Autor: Kervarrec T; Department of Pathology, Centre Hospitalier Universitaire de Tours, Université de Tours, Tours, France.; 'Biologie des infections à polyomavirus' Team, UMR INRA ISP 1282, Université de Tours, Tours, France.; CARADERM Network, Lille, France., Pissaloux D; Department of Biopathology, Center 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., Paindavoine S; Department of Biopathology, Center Léon Bérard, Lyon, France., Tirode F; 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., Osio A; Department of Pathology, APHP Hôpital Saint Louis, Université Paris 7, Paris, France., Mourah S; Department of Pharmacology and Solid Tumor Genomics, Saint Louis Hospital, Paris University AP-HP, Paris, France., Jouenne F; Department of Pharmacology and Solid Tumor Genomics, Saint Louis Hospital, Paris University AP-HP, Paris, France., Sohier P; CARADERM Network, Lille, France.; Faculté de Médecine, Université Paris Cité, Paris, France.; Department of Pathology, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France., Calonje E; Department of Dermatopathology, St John's Institute of Dermatology, St Thomas's Hospital, London, UK., Pekar A; Department of Dermatopathology, St John's Institute of Dermatology, St Thomas's Hospital, London, UK., Luna EVE; Department of Dermatopathology, St John's Institute of Dermatology, St Thomas's Hospital, London, UK., Goto K; Department of Pathology, Tokyo Metropolitan Cancer and Infectious Disease Center Komagome Hospital, Tokyo, Japan.; Department of Diagnostic Pathology, Shizuoka Cancer Center Hospital, Sunto, Japan.; Department of Diagnostic Pathology and Cytology, Osaka International Cancer Institute, Osaka, Japan.; Department of Dermatology, Hyogo Cancer Center, Akashi, Japan., Delalande F; Department of Pathology, Hospital Center of Orléans, Orléans, France., Frouin E; CARADERM Network, Lille, France.; Department of Pathology, University hospital of Poitiers, Poitiers, France., Macagno N; CARADERM Network, Lille, France.; Department of Pathology, Timone University Hospital, Marseille, France., Drouot F; CARADERM Network, Lille, France.; Department of Pathology, Cypath, Dijon, France., Faisan M; CARADERM Network, Lille, France.; Department of Pathology, Cypath, Lyon, France., Cribier B; CARADERM Network, Lille, France.; Dermatology Clinic, Hôpitaux Universitaires & Université de Strasbourg, Hôpital Civil, Strasbourg, France., Battistella M; CARADERM Network, Lille, France.; Department of Pathology, APHP Hôpital Saint Louis, Université Paris 7, Paris, France.; Department of Pathology, APHP Hôpital Saint Louis, INSERM U976, Université Paris Cité 7, Paris, France., de la Fouchardière A; CARADERM Network, Lille, France.; Department of Biopathology, Center Léon Bérard, Lyon, France.
Jazyk: angličtina
Zdroj: Histopathology [Histopathology] 2023 Aug; Vol. 83 (2), pp. 310-319. Date of Electronic Publication: 2023 May 18.
DOI: 10.1111/his.14940
Abstrakt: Aims: Poroma is a benign adnexal neoplasm with differentiation towards the upper portion of the sweat gland apparatus. In 2019, Sekine et al. demonstrated recurrent YAP1::MAML2 and YAP1::NUTM1 fusion in poroma and porocarcinoma. Follicular, sebaceous and/or apocrine differentiation has been reported in rare cases of poroma and whether these tumours constitute a variant of poroma or represent a distinctive tumour is a matter to debate. Herein we describe the clinical, immunophenotypic, and molecular features of 13 cases of poroma with folliculo-sebaceous differentiation.
Methods and Results: Most of the tumours were located on the head and neck region (n = 7), and on the thigh (n = 3). All presented were adults with a slight male predilection. The median tumour size was 10 mm (range: 4-25). Microscopically, lesions displayed features of poroma with nodules of monotonous basophilic cells associated with a second population of larger eosinophilic cells. In all cases, ducts and scattered sebocytes were identified. Infundibular cysts were present in 10 cases. In two cases high mitotic activity was noted, and in three cases cytologic atypia and areas of necrosis were identified. Whole transcriptome RNA sequencing demonstrated in-frame fusion transcripts involving RNF13::PAK2 (n = 4), EPHB3::PAK2 (n = 2), DLG1::PAK2 (n = 2), LRIG1::PAK2 (n = 1), ATP1B3::PAK2 (n = 1), TM9SF4::PAK2 (n = 1), and CTNNA1::PAK2 (n = 1). Moreover, fluorescence in situ hybridisation (FISH) analysis revealed PAK2 rearrangement in an additional case. No YAP1::MAML2 or YAP1::NUTM1 fusion was detected.
Conclusion: Recurrent fusions involving the PAK2 gene in all analysed poroma with folliculo-sebaceous differentiation in this study confirms that this neoplasm represents a separate tumour entity distinct from YAP1::MAML2 or YAP1::NUTM1 rearranged poromas.
(© 2023 The Authors. Histopathology published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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