Sweat Gland Tumors Arising on Acral Sites: A Molecular Survey - CRCL-Génétique, épigénétique et biologie des sarcomes
Article Dans Une Revue American Journal of Surgical Pathology Année : 2023

Sweat Gland Tumors Arising on Acral Sites: A Molecular Survey

1 ISP - Infectiologie et Santé Publique
2 Service de Pathologie [CHRU Tours]
3 CHRU Tours - Centre Hospitalier Régional Universitaire de Tours
4 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
5 TIMONE - Hôpital de la Timone [CHU - APHM]
6 UNICANCER/CRCL - Centre de Recherche en Cancérologie de Lyon
7 Centre Léon Bérard [Lyon]
8 MIVEGEC - Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle
9 DIG CANCER - Dynamique de l'information génétique : bases fondamentales et cancer
10 UPCité - Université Paris Cité
11 Hôpital Cochin [AP-HP]
12 CHLS - Centre Hospitalier Lyon Sud [CHU - HCL]
13 Centre de Dermatopathologie de la Roquette
14 CHU Bordeaux - Centre Hospitalier Universitaire de Bordeaux
15 Hôpital Ambroise Paré [AP-HP]
16 CHU Toulouse - Centre Hospitalier Universitaire de Toulouse
17 IUCT Oncopole - UMR 1037 - Institut Universitaire du Cancer de Toulouse - Oncopole
18 GIGA [Université Liège]
19 CHU de Poitiers [La Milétrie] - Centre hospitalier universitaire de Poitiers = Poitiers University Hospital
20 LITEC [Poitiers] - Laboratoire Inflammation, Tissus épithéliaux et Cytokines
21 St Thomas' Hospital [London]
22 Centre hospitalier de Pau
23 CHRU Lille - Centre Hospitalier Régional Universitaire [CHU Lille]
24 UNISTRA - Université de Strasbourg
25 HUS - Les Hôpitaux Universitaires de Strasbourg
26 Nouvel Hôpital Civil de Strasbourg
27 AP-HP - Hopital Saint-Louis [AP-HP]
28 UPD7 - Université Paris Diderot - Paris 7
Franck Tirode
Isabelle Moulonguet
  • Fonction : Auteur
Patricia Berthon

Résumé

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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Dates et versions

hal-04183882 , version 1 (23-08-2023)

Identifiants

Citer

Thibault Kervarrec, Anne Tallet, Nicolas Macagno, Arnaud de la Fouchardière, Daniel Pissaloux, et al.. Sweat Gland Tumors Arising on Acral Sites: A Molecular Survey. American Journal of Surgical Pathology, 2023, 47 (10), pp.1096-1107. ⟨10.1097/PAS.0000000000002098⟩. ⟨hal-04183882⟩
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