Annales De Pathologie最新文献

{"title":"Les tumeurs des glandes salivaires associées à des transcrits de fusion","authors":"Marick Laé ,&nbsp;Marie-Delphine Lanic ,&nbsp;Charles Lépine ,&nbsp;Muriel Hourseau ,&nbsp;Nazim Benzerdjeb ,&nbsp;Emmanuelle Uro-Coste ,&nbsp;Valérie Costes-Martineau","doi":"10.1016/j.annpat.2023.12.012","DOIUrl":"10.1016/j.annpat.2023.12.012","url":null,"abstract":"<div><div>Les tumeurs des glandes salivaires représentent un défi diagnostique pour les pathologistes en raison de leur rareté, de leur très grande variété histopathologique et immuno-phénotypique ainsi que de l’identification récente de nouvelles entités. Cette mise au point présente les principales caractéristiques moléculaires de ces tumeurs afin de permettre à tout pathologiste de percevoir les pistes diagnostiques de ces tumeurs ORL et de mieux guider l’approche moléculaire pour établir le diagnostic et guider la thérapeutique.</div></div><div><div>Salivary gland tumors represent a diagnostic challenge for pathologists due to their rarity, their very wide histopathological and immuno-phenotypic spectrum, and the recent identification of new entities. This article presents the main molecular characteristics of these tumors in order to allow any pathologist to perceive the diagnostic tracks of these ENT tumors and to better guide the molecular approach to establish the diagnosis and guide therapy.</div></div>","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"45 1","pages":"Pages 29-42"},"PeriodicalIF":0.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139736631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrélations cliniques, morphologiques et génétiques dans les tumeurs mélanocytaires avec translocations chromosomiques","authors":"Jeremy Schoelinck ,&nbsp;Daniel Pissaloux ,&nbsp;Maxime Mouthon ,&nbsp;Rémi Vergara ,&nbsp;Arnaud de la Fouchardière","doi":"10.1016/j.annpat.2024.01.008","DOIUrl":"10.1016/j.annpat.2024.01.008","url":null,"abstract":"<div><div>Les translocations chromosomiques sont responsables de la production de protéines de fusion chimériques potentiellement dotées de capacités oncogéniques pouvant devenir une anomalie <em>driver</em> dans certains types tumoraux. Le modèle le plus fréquent est la juxtaposition d’un gène suppresseur de tumeur qui devient inactivé et une kinase fonctionnelle qui devient indépendante de son système de régulation. L’éventail des fusions chromosomiques décrites et de leurs modèles oncogéniques respectifs ne cesse de s’agrandir dans la classification OMS 2023 des tumeurs mélanocytaires. Il n’est plus cantonné au simple groupe de tumeurs de Spitz mais s’étend dorénavant au groupe des nævus bleus ainsi qu’à un groupe de tumeurs dermiques présentant un phénotype mélanocytaire partiel. La pathologie moléculaire permet d’identifier ces différentes anomalies en s’appuyant sur des critères cliniques et morphologiques que nous détaillerons. Cette analyse est d’autant plus importante qu’elle influence la prise en charge thérapeutique adaptée de ces lésions souvent surtraitées.</div></div><div><div>In some tumoral subtypes chromosomal translocations lead to an oncogenic chimeric protein acting as a tumorigenesis driver event. The main fusion model combines the promoter swapping of an inactivated tumor suppressor gene and a functional kinase that evades its regulatory system. The range of described fusions keeps growing in the 2023 WHO classification of melanocytic tumours. It is not limited to the group of Spitz tumours as previously but now extends to blue tumours and dermal tumours with a melanocytic phenotype. Molecular pathology helps detect these anomalies using clinical and morphological features. This analysis is essential as this strongly conditions the adapted local treatment of such tumours who are often overtreated.</div></div>","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"45 1","pages":"Pages 3-14"},"PeriodicalIF":0.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139698871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tumeur neuroépithéliale avec fusion PATZ1 – à propos d’un cas et mise au point sur une entité mal définie","authors":"Alix Fontaine ,&nbsp;Laëtitia Basset ,&nbsp;Serge Milin ,&nbsp;Joris Argentin ,&nbsp;Emmanuelle Uro-Coste ,&nbsp;Audrey Rousseau","doi":"10.1016/j.annpat.2024.01.002","DOIUrl":"10.1016/j.annpat.2024.01.002","url":null,"abstract":"<div><div>La tumeur neuroépithéliale avec fusion <em>PATZ1</em> est un type tumoral de description récente, à la frontière entre tumeur du système nerveux central et tumeur mésenchymateuse. Le diagnostic histopathologique de cette tumeur, non reconnue par l’OMS, est difficile compte tenu de ses aspects microscopiques polymorphes et peu spécifiques. Il s’agit souvent d’une prolifération tumorale densément cellulaire de bas ou haut grade constituée de cellules aux noyaux monomorphes. Il existe parfois des pseudo-rosettes périvasculaires de type épendymaire ou astroblastique. Les vaisseaux peuvent avoir des parois hyalinisées. OLIG2 et GFAP sont exprimés de façon variable. Aidé du méthylome, le pathologiste averti recherchera une fusion de <em>PATZ1</em> avec <em>EWRS1</em> ou <em>MN1</em>. La physiopathogenèse de cette tumeur rare reste à élucider. Son pronostic semble être celui des tumeurs de grade intermédiaire mais les traitements proposés sont souvent ceux des tumeurs de haut grade. La présence d’une fusion <em>PATZ1</em> représente néanmoins une piste prometteuse pour le développement de thérapies ciblées.</div></div><div><div>The neuroepithelial tumor with <em>PATZ1</em> fusion is a recently described tumor type, at the border between central nervous system and mesenchymal tumors. The histopathological diagnosis of this neoplasm, not recognized by the 2021 WHO classification, is challenging due to its varied and non-specific morphologic features. Most cases are densely cellular with monomorphous nuclei. Perivascular pseudo-rosettes of the ependymal type and astroblastic features are frequent. Blood vessels may be hyalinized. The tumor may display low- or high-grade features. OLIG2 and GFAP are variably expressed. Guided by DNA methylation profiling, a pathologist aware of this tumor type will search for a fusion involving <em>PATZ1</em> and <em>EWSR1</em> or <em>MN1</em>. The physiopathology of neuroepithelial tumor with <em>PATZ1</em> fusion is not fully understood. The prognosis appears to align with that of intermediate-grade tumors but follow-up data are scarce. The therapeutic management is often similar to that of high-grade neoplasms. Nonetheless, <em>PATZ1</em> fusion is a potential therapeutic avenue that may lead to personalized and less aggressive treatments.</div></div>","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"45 1","pages":"Pages 92-96"},"PeriodicalIF":0.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139716639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tumeurs nasosinusiennes à translocation","authors":"Charles Lépine ,&nbsp;Aude Trinquet ,&nbsp;Marick Laé ,&nbsp;Valérie Costes-Martineau","doi":"10.1016/j.annpat.2023.12.013","DOIUrl":"10.1016/j.annpat.2023.12.013","url":null,"abstract":"<div><div>Ces dernières années plusieurs entités dans les fosses nasales et les sinus ont été décrites avec des gènes de fusion. Il ne sera pas abordé dans cet article les tumeurs des glandes salivaires avec gènes de fusion, mais il faut garder à l’esprit que des glandes salivaires accessoires sont présentes dans les fosses nasales et les sinus et peuvent donc conduire à des lésions tumorales. Les entités avec réarrangements spécifiques ou décrites de façon plus fréquente dans les fosses nasales et les sinus sont les carcinomes épidermoïdes réarrangés <em>DEK</em>::<em>AFF2</em>, les adénocarcinomes nasosinusiens de type non intestinal et non salivaire qui présentent pour certains un réarrangement du gène <em>ETV6</em>, les sarcomes nasosinusiens biphénotypiques avec des réarrangements du gène <em>PAX3</em> majoritairement et enfin, les sarcomes d’Ewing <em>adamantinom</em><em>like</em> qui présentent les mêmes réarrangements que les sarcomes d’Ewing conventionnels, à savoir majoritairement le réarrangement <em>EWSR1</em>::<em>FLI1</em>. Chaque entité sera décrite sur les plans morphologique, immunohistochimique et pronostique.</div></div><div><div>In recent years, several nasal cavity and sinus entities have been described with fusion genes. Salivary gland tumors with fusion genes will not be discussed in this article, but it should be kept in mind that accessory salivary glands are present in the nasal cavity and sinuses and can therefore lead to tumoral lesions. Entities with specific or more frequently described rearrangements in the nasal cavities and sinuses are <em>DEK</em>::<em>AFF2</em> squamous cell carcinomas,;non-intestinal and non-salivary nasosinusal adenocarcinomas, some of which displaying <em>ETV6</em> gene rearrangements; biphenotypic nasosinusal sarcomas, most of which displaying <em>PAX3</em> gene rearrangements; and Ewing's adamantinoma-like sarcomas, which display the same rearrangements as conventional Ewing's sarcomas, mainly the <em>EWSR1</em>::<em>FLI1</em> rearrangement. Each entity will be described morphologically, immunohistochemically, and prognostically.</div></div>","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"45 1","pages":"Pages 43-52"},"PeriodicalIF":0.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139736632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lost in translocation!","authors":"Audrey Rousseau","doi":"10.1016/j.annpat.2024.12.001","DOIUrl":"10.1016/j.annpat.2024.12.001","url":null,"abstract":"","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"45 1","pages":"Pages 1-2"},"PeriodicalIF":0.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142848393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[A national survey from the French Society of Pathology on research and application of artificial intelligence in pathology].","authors":"Pierre Allaume, Raphaël Bourgade, Arnaud Uguen, Thierry Pécot, Sophie Prevot, Catherine Guettier, Janick Selves, Philippe Bertheau, Camille Franchet, Magali Svrcek, Jean-Christophe Sabourin, Marie Brevet, Julien Calderaro, Nathalie Rioux-Leclercq, Delphine Loussouarn, Solène-Florence Kammerer-Jacquet","doi":"10.1016/j.annpat.2024.12.008","DOIUrl":"https://doi.org/10.1016/j.annpat.2024.12.008","url":null,"abstract":"<p><p>The 2030 French Innovation Healthcare national plan defined \"Digital Healthcare\" as one of its priority. The deployment of digital pathology and artificial intelligence fits perfectly into this framework. Therefore we evaluated the pathologist's interest in those fields by conducting an online survey among members of the French Society of Pathology, mainly composed of senior pathologists and trainees (n=2301). We collected 123 answers originating nationwide and representative of all status of practice. A heavy majority of participants (83%) declared themselves \"interested or very interested\" in digital transition and AI. Twenty-six percent of participants took part in academic research projects and 20% in industrial research projects. With digital pathology becoming increasingly common nationwide, there is a growing interest of pathologists in the development and validation of AI algorithms. In order to support this dynamic, a commission for research on artificial intelligence has been created under the authority of the French Society of Pathology.</p>","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Case #2: Urinary cytology with reactive changes in the context of a double J catheter - Negative for high-grade urothelial carcinoma according to the 2022 Paris system].","authors":"Jacqueline Fontugne","doi":"10.1016/j.annpat.2024.12.003","DOIUrl":"https://doi.org/10.1016/j.annpat.2024.12.003","url":null,"abstract":"","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916009","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Case No. 1. Negative cytology for high-grade urothelial carcinoma].","authors":"Sophie Ferlicot","doi":"10.1016/j.annpat.2024.12.007","DOIUrl":"https://doi.org/10.1016/j.annpat.2024.12.007","url":null,"abstract":"","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Case No. 3. Negative cytology for high-grade urothelial carcinoma. Polyomavirus infection].","authors":"Sophie Ferlicot","doi":"10.1016/j.annpat.2024.12.006","DOIUrl":"https://doi.org/10.1016/j.annpat.2024.12.006","url":null,"abstract":"","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Vulval intestinal heterotopia in a 12-year-old girl].","authors":"Sara El Ghaffouli, Lamiaa Rouas","doi":"10.1016/j.annpat.2024.12.002","DOIUrl":"https://doi.org/10.1016/j.annpat.2024.12.002","url":null,"abstract":"","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}