[en] Recurrent oncogenic drivers have been identified in a variety of sweat gland tumors. Recently, integration of human papillomavirus type 42 (HPV42) has been reported in digital papillary adenocarcinoma (DPA). The main objectives of the present study were (i) to provide an overview of the prevalence of previously identified oncogenic drivers in acral sweat gland tumors and (ii) to genetically characterize tumors in which no recurrent genetic alteration has been identified yet. Cases of acral sweat gland tumors were identified from the database of the French network CARADERM. After histologic review, the presence of previously identified genetic alterations was investigated in the entire cohort (n=79) using a combination of immunohistochemistry and targeted DNA and RNA sequencing. Tumor entities with no recurrent genetic alterations were submitted to whole-transcriptome sequencing.CRTC1::MAML2fusion was identified in cases of hidradenoma and hidradenocarcinoma (n=9/12 and n=9/12). A p.V600E mutation ofBRAFwas observed in all cases of tubular adenoma (n=4).YAP1:MAML2andYAP1::NUTM1fusions were observed in poroid tumors (n=15/25).ETV6::NTRK3andTRPS1::PLAG1fusion transcripts were identified in secretory carcinoma (n=1/1) and cutaneous mixed tumors (n=3/4), respectively. The HPV42 genome was detected in most cases of DPA (n=10/11) and in 1 adnexal adenocarcinoma not otherwise specified. Finally, whole-transcriptome analysis revealedBRD3::NUTM1orNSD3::NUTM1fusions in 2 cases of NUT adnexal carcinoma andNCOA4::RETandCCDC6::RETfusion transcripts in 2 cystadenoma/hidrocystoma-like tumors. Our study confirms distinctive cytogenetic abnormalities in a wide number of acral adnexal neoplasms and supports the use of molecular analysis as a valuable aid in the diagnosis of these rare and often difficult to diagnose group of neoplasms.
Disciplines :
Oncology
Author, co-author :
Kervarrec, Thibault; CARADERM, French Network of Rare Cutaneous Cancer ; Department of Pathology, University Hospital Center of Tours ; "Biologie des infections polyomavirus" Team, UMR INRA ISP1282, University of Tours
Tallet, Anne; Platform of Solid Tumor Molecular Genetics, University Hospital Center of Tours, Tours
Macagno, Nicolas; CARADERM, French Network of Rare Cutaneous Cancer ; Department of Pathology, APHM, Timone University Hospital ; Aix Marseille University, INSERM, MMG, UMR1251, Marmara Institute, Marseille
de la Fouchardière, Arnaud; CARADERM, French Network of Rare Cutaneous Cancer ; Department of Biopathology, Center Léon Bérard ; University of Lyon, Université Claude Bernard Lyon 1, INSERM 1052, CNRS 5286, Centre Léon Bérard, Cancer Research Center of Lyon, Equipe Labellisée Ligue contre le Cancer
Pissaloux, Daniel; Department of Biopathology, Center Léon Bérard ; University of Lyon, Université Claude Bernard Lyon 1, INSERM 1052, CNRS 5286, Centre Léon Bérard, Cancer Research Center of Lyon, Equipe Labellisée Ligue contre le Cancer
Tirode, Franck; University of Lyon, Université Claude Bernard Lyon 1, INSERM 1052, CNRS 5286, Centre Léon Bérard, Cancer Research Center of Lyon, Equipe Labellisée Ligue contre le Cancer
Bravo, Ignacio G; French National Center for Scientific Research (CNRS), Laboratory MIVEGEC (CNRS IRD Univ Montpellier), Montpellier
Nicolas, Alain; Institut Curie, PSL Research University, CNRS UMR3244
Baulande, Sylvain; Institut Curie, PSL Research University, CNRS UMR3244
Sohier, Pierre; CARADERM, French Network of Rare Cutaneous Cancer ; Faculté de Médecine Paris Centre Santé, University of Paris ; Department of Pathology, Cochin Hospital, AP-HP, AP-HP Centre-Université de Paris
Balme, Brigitte; CARADERM, French Network of Rare Cutaneous Cancer ; Department of Pathology, University Hospital Center of Lyon-Sud, Hospices Civils de Lyon, Lyon
Osio, Amélie; CARADERM, French Network of Rare Cutaneous Cancer ; National Center of Dermatopathology, Paris-la Roquette, Ivry
Jullie, Marie-Laure; CARADERM, French Network of Rare Cutaneous Cancer ; Department of Pathology, University Hospital Center of Bordeaux, Pessac
Moulonguet, Isabelle; Cabinet Mathurin Moreau
Bonsang, Benjamin; CARADERM, French Network of Rare Cutaneous Cancer ; Department of Pathology, Hôpital Ambroise Pare, AP-HP
Tournier, Emilie; CARADERM, French Network of Rare Cutaneous Cancer ; Department of Pathology, CHU Toulouse, Institut Universitaire du Cancer de Toulouse Oncopole ; Université Toulouse III Paul Sabatier, Toulouse
Herfs, Michael ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques
Frouin, Eric; Department of Pathology, University Hospital Center of Poitiers, LITEC, UR 15560, University of Poitiers, Poitiers
Zidan, Anoud; Dermatopathology Laboratory, St John's Institute of Dermatology, St Thomas' Hospital, London, UK
Calonje, Eduardo; Dermatopathology Laboratory, St John's Institute of Dermatology, St Thomas' Hospital, London, UK
Berthon, Patricia; "Biologie des infections polyomavirus" Team, UMR INRA ISP1282, University of Tours
Touzé, Antoine; "Biologie des infections polyomavirus" Team, UMR INRA ISP1282, University of Tours
Seris, Alice; CARADERM, French Network of Rare Cutaneous Cancer ; Department of Dermatology, Hospital Center of Pau, Pau
Mortier, Laurent; CARADERM, French Network of Rare Cutaneous Cancer ; Department of Dermatology, University Hospital Center of Lille, Lille
Jouary, Thomas; CARADERM, French Network of Rare Cutaneous Cancer ; Department of Dermatology, Hospital Center of Pau, Pau
Cribier, Bernard; CARADERM, French Network of Rare Cutaneous Cancer ; Clinique Dermatologique, Hôpitaux Universitaires & Université de Strasbourg, Hôpital Civil, Strasbourg, France
Battistella, Maxime; CARADERM, French Network of Rare Cutaneous Cancer ; Department of Pathology, Hopital Saint Louis, AP-HP Universite ́ Paris 7, Paris
