Contributors: Infectiologie et Santé Publique (ISP); Université de Tours (UT)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE); Service de Pathologie CHRU Tours; Centre Hospitalier Régional Universitaire de Tours (CHRU Tours); Marseille medical genetics - Centre de génétique médicale de Marseille (MMG); Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM); Hôpital de la Timone CHU - APHM (TIMONE); Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL); Centre Léon Bérard Lyon -Université Claude Bernard Lyon 1 (UCBL); Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS); Centre Léon Bérard Lyon; Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC); Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD Occitanie )-Université de Montpellier (UM); Dynamique de l'information génétique : bases fondamentales et cancer (DIG CANCER); Institut Curie Paris -Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS); Université Paris Cité (UPCité); Hôpital Cochin AP-HP; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP); Centre Hospitalier Lyon Sud CHU - HCL (CHLS); Hospices Civils de Lyon (HCL); Centre de Dermatopathologie de la Roquette; Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux); Hôpital Ambroise Paré AP-HP; Centre Hospitalier Universitaire de Toulouse (CHU Toulouse); Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037); Université Toulouse III - Paul Sabatier (UT3); Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM); GIGA Université Liège; Université de Liège; Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ); Laboratoire Inflammation, Tissus épithéliaux et Cytokines (LITEC Poitiers ); Université de Poitiers = University of Poitiers (UP); St Thomas' Hospital London; Centre hospitalier de Pau; Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille); Université de Strasbourg (UNISTRA); Les Hôpitaux Universitaires de Strasbourg (HUS); Nouvel Hôpital Civil de Strasbourg; Hopital Saint-Louis AP-HP (AP-HP); Université Paris Diderot - Paris 7 (UPD7); the ITMO-Cancer Aviesan (Plan Cancer III); the SiRIC-Curie program (SiRIC Grant INCa-DGOS- 465 and INCa-DGOS-Inserm_12554); ANR-10-EQPX-0003,ICGex,Equipement de biologie intégrative du cancer pour une médecine personnalisée(2010); ANR-10-INBS-0009,France Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010)
نبذة مختصرة : International audience ; Background: 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).Objectives: 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.Methods: 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.Results: CRTC1::MAML2 fusion was identified in cases of hidradenoma and hidradenocarcinoma (n=9/12 and n=9/12). A p.V600E mutation of BRAF was observed in all cases of tubular adenoma (n=4). YAP1:MAML2 and YAP1::NUTM1 fusions were observed in poroid tumors (n=15/25). ETV6::NTRK3 and TRPS1::PLAG1 fusion 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 revealed BRD3::NUTM1 or NSD3::NUTM1 fusions in 2 cases of NUT adnexal carcinoma and NCOA4::RET and CCDC6::RET fusion transcripts in 2 cystadenoma/hidrocystoma-like tumors.Conclusion: 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.
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