Annales De Pathologie最新文献

{"title":"[Of muscle and bone: Diagnostic challenge of an uncommonly located rhabdomyosarcoma].","authors":"Simon Phélinas, Marie Karanian, Nadège Corradini, Aude Excoffier, Sara Cabet, Frédérique Dijoud","doi":"10.1016/j.annpat.2024.10.003","DOIUrl":"https://doi.org/10.1016/j.annpat.2024.10.003","url":null,"abstract":"<p><p>Rhabdomyosarcomas form a heterogeneous group of malignant soft tissue tumors characterized by immature striated muscle differentiation. Epithelioid and spindle cell rhabdomyosarcoma is a recently described entity, mainly localized intraosseously and predominantly found in young patients. Its late diagnosis and high aggressiveness confer a grim prognosis to this tumor, highlighting the importance of early recognition and appropriate management. We present herein the clinical, histopathological, immunohistochemical, and molecular aspects of this entity through a case of misleading presentation.</p>","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631811","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":"[Undifferentiated small round cell sarcomas of bone and soft tissue].","authors":"Lukas Marcelis, Rafael Sciot","doi":"10.1016/j.annpat.2024.09.012","DOIUrl":"https://doi.org/10.1016/j.annpat.2024.09.012","url":null,"abstract":"<p><p>In the 2020 5th edition of the World Health Organization classification of soft tissue and bone tumours a major reorganization of Undifferentiated Small Round Cell Sarcomas (USRCS) took place based on the underlying molecular features. The classification now recognizes Ewing sarcoma, round cell sarcoma with EWSR1-non-ETS fusions, CIC-rearranged sarcoma and sarcoma with BCOR alterations. The focus on these genetic alterations highlights the importance of molecular techniques in the diagnosis of these entities. Knowledge of these features can drastically reduce the time to diagnosis and avoid potential misdiagnosis. Molecular diagnostic capabilities should not be limited to an overall small number of centres worldwide as is reflected by the WHO's recognition of 'essential' and 'desirable' diagnostic criteria. A good knowledge of the usual histomorphology, uncommon variants and diagnostic pitfalls remains essential even in centres with access to a full molecular testing arsenal. This review aims to give an overview of the current classification of USRCS not by going over each entity, but instead going over the molecular, morphological, immunophenotypic and clinical features step by step to allow easy comparison of these features between the separate entities.</p>","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606876","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":"Leçons sur les réactions aux produits de comblement à visée esthétique","authors":"Françoise Plantier","doi":"10.1016/j.annpat.2024.09.005","DOIUrl":"10.1016/j.annpat.2024.09.005","url":null,"abstract":"<div><div>Tout produit injecté pour comblement des rides peut se comporter comme un corps étranger et provoquer des réactions granulomateuses inesthétiques. Le sujet est en constante évolution, soumis aux aléas du marché. L’acide hyaluronique est le plus injecté car résorbable et probablement le moins « toxique ». En cas de développement d’une sarcoïdose ou d’un trouble immunitaire, et en cas de vaccination contre la Covid, des granulomes peuvent se développer même en cas d’injections très anciennes.</div></div><div><div>Any product injected to fill wrinkles can behave like a foreign body and cause unsightly granulomatous reactions. The subject is constantly evolving, subject to the vagaries of the market. Hyaluronic acid is the most injected product because it is resorbable and probably the least “toxic”. In the event of sarcoidosis or an immune disorder, and in the event of vaccination against Covid, granulomas can develop even after very old injections.</div></div>","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"44 6","pages":"Pages 491-497"},"PeriodicalIF":0.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142480061","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":"Éditorial","authors":"Pr Audrey Rousseau","doi":"10.1016/j.annpat.2024.10.001","DOIUrl":"10.1016/j.annpat.2024.10.001","url":null,"abstract":"","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"44 6","pages":"Page 395"},"PeriodicalIF":0.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512466","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":"Angiopathie amyloïde cérébroméningée","authors":"Thibaut Wolf ,&nbsp;Agathe Chammas ,&nbsp;Béatrice Lannes ,&nbsp;Benoît Lhermitte","doi":"10.1016/j.annpat.2024.09.008","DOIUrl":"10.1016/j.annpat.2024.09.008","url":null,"abstract":"<div><div>L’angiopathie amyloïde représente 20 % des causes d’hématome intra-parenchymateux. L’examen histopathologique doit rechercher attentivement les anomalies vasculaires caractéristiques et l’examen immunohistochimique avec un anticorps anti-peptide βA4 doit être réalisé de façon systématique. En pratique, les produits d’évacuation d’un hématome intracérébral doivent être inclus en totalité, car les lésions peuvent être focales. L’existence d’antécédents neurochirurgicaux peut faire suggérer une étiologie iatrogène chez les patients de moins de 55 ans.</div></div><div><div>Amyloid angiopathy represents 20% of causes of intraparenchymal hematoma. The histopathological examination must carefully look for characteristic vascular abnormalities and the immunohistochemistry for the βA4 peptide must be carried out systematically. In practice, the evacuation products of an intracerebral hematoma must be fully included, because the lesions may be focal. The existence of a neurosurgical history may suggest an iatrogenic etiology when patients are less than 55 years-old.</div></div>","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"44 6","pages":"Pages 486-490"},"PeriodicalIF":0.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142367331","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":"Carcinome à cellules hautes et à polarité inversée du sein : à propos d’un cas","authors":"","doi":"10.1016/j.annpat.2024.01.001","DOIUrl":"10.1016/j.annpat.2024.01.001","url":null,"abstract":"&lt;div&gt;&lt;div&gt;Le carcinome à cellules hautes et à polarité inversée du sein, anciennement dénommé « carcinome papillaire solide à polarité inversée » est une entité rare, récemment introduite dans la dernière édition de la classification OMS des tumeurs du sein. Il s’agit d’une tumeur de phénotype triple négatif et de diagnostic difficile. Bien que peu de cas ont été rapportés dans la littérature, la connaissance de cette tumeur mammaire est essentielle afin de la distinguer des autres carcinomes triples négatifs, de moins bon pronostic. Nous rapportons un cas de carcinome à cellules hautes et à polarité inversée du sein chez une patiente âgée de 43 ans, sans antécédents néoplasiques mammaires ni masse palpable à l’examen clinique. La tumeur a été découverte sur une écho-mammographie de dépistage qui a révélé une lésion classée ACR 4b. Une microbiopsie de cette lésion a conclu à une prolifération papillaire dont l’exérèse était souhaitable. Une tumorectomie a été réalisée. Les études anatomopathologique et immunohistochimique de la pièce opératoire ont confirmé le diagnostic de carcinome à cellules hautes et à polarité inversée exprimant la calrétinine et l’IDH1. Vu la rareté de cette entité, il n’existe pas de standard thérapeutique. Dans notre cas, une mastectomie sans curage ganglionnaire a été réalisée. Le bilan d’extension était négatif et la patiente n’a pas reçu de traitement adjuvant. Après un recul clinique de 12 mois, aucune récidive n’a été notée. À travers cette observation, nous précisons les caractéristiques histopathologiques, immunohistochimiques et moléculaires de cette entité rare.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;div&gt;Reverse polarity high-cell carcinoma of the breast, formerly known as reverse polarity solid papillary carcinoma, is a rare entity recently introduced into the latest edition of the WHO classification of breast tumors. Its phenotype is triple-negative, and its diagnosis difficult. Although few cases have been reported in the literature, knowledge of this breast tumor is essential to distinguish it from other triple-negative carcinomas, which have a poorer prognosis. We report a case of high-cell, inverted-polarity carcinoma of the breast in a 43-year-old female patient with no history of breast neoplasia and no palpable mass on clinical examination. The tumour was discovered following a screening echomammogram, which revealed a lesion classified ACR 4b. A microbiopsy of this lesion concluded that it was a papillary proliferation that should be removed. A lumpectomy was performed. Histopathological and immunohistochemical studies of the surgical specimen confirmed the diagnosis of high-cell, reverse-polarity carcinoma expressing calretinin and IDH1. Given the rarity of this entity, there is no standard treatment. In our case, a mastectomy without lymph node curage was performed. The extension work-up was negative and the patient received no adjuvant treatment. After 12 months, the patient is in complete remission. In this case report, ","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"44 6","pages":"Pages 505-509"},"PeriodicalIF":0.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139564972","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":"Thésaurismoses adultes et pédiatriques : maladies de surcharge lysosomale, surcharges lipidiques et glycogénoses","authors":"Sophie Collardeau-Frachon","doi":"10.1016/j.annpat.2024.09.010","DOIUrl":"10.1016/j.annpat.2024.09.010","url":null,"abstract":"<div><div>Les thésaurismoses ou maladies de surcharge sont des maladies génétiques rares dues à une accumulation anormale d’un composé organique ou de son métabolite dans les cellules. Ces affections résultent soit d’un défaut de catabolisme dû à une dysfonction enzymatique, soit d’un défaut en protéines de transport. Elles incluent les maladies de surcharge lysosomale, les surcharges lipidiques ou dyslipidémies, et les glycogénoses. Si le diagnostic est le plus souvent clinicobiologique, il peut être posé par le pathologiste lorsque la symptomatologie clinique est atypique ou les examens biochimiques ou génétique d’interprétation difficile. Pour un diagnostic optimal, il est impératif de congeler une partie des prélèvements. Les appositions et les techniques de colorations spéciales peuvent aussi aider au diagnostic. Le diagnostic étant multidisciplinaire, les interactions avec les cliniciens, biochimistes et généticiens sont essentielles.</div></div><div><div>Thesaurismosis or storage diseases are rare genetic disorders due to an abnormal accumulation of an organic compound or its metabolite within cells. These conditions are either secondary to a defect in catabolism caused by enzymatic dysfunction or to a deficiency in transport proteins. They encompass lysosomal storage diseases, lipid storage diseases or dyslipidemias, and glycogen storage disorders or glycogenoses. Diagnosis is typically based on clinical and biological anomalies but may be made or suggested by the pathologist when symptoms are atypical or when biochemical or genetic tests are challenging to interpret. For accurate diagnosis, it is crucial to freeze a portion of the samples. Special staining and electronic microscopy can also aid in the diagnostic process. As the diagnosis is multidisciplinary, collaboration with clinicians, biochemists and geneticists is essential.</div></div>","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"44 6","pages":"Pages 432-452"},"PeriodicalIF":0.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142367330","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":"Calcifications et métabolisme phosphocalcique","authors":"Marie-Françoise Heymann","doi":"10.1016/j.annpat.2024.09.004","DOIUrl":"10.1016/j.annpat.2024.09.004","url":null,"abstract":"<div><div>Les calcifications extra-osseuses correspondent à des dépôts ubiquitaires de sels calciques intra tissulaires entraînant une dysfonction du tissu ou de l’organe atteint. Il en existe deux types : les calcifications métastatiques et les calcifications dystrophiques. Leur mécanisme de formation se fait par mimétisme du processus de minéralisation physiologique avec une cellule « osteoblast-like ». La cause des calcifications extra-osseuses est variable et dépend des facteurs de risque. Si le sujet est jeune, il faudra penser à un syndrome génétique !</div></div><div><div>Extraosseous calcifications correspond to ubiquitous deposits of intra-tissue calcium salts leading to dysfunction of the affected tissue or organ. There are two types: metastatic calcifications and dystrophic calcifications. Their formation mechanism is by mimicking the physiological mineralization process with an “osteoblast-like” cell. The cause of extra-osseous calcification is variable and depends on risk factors. If the subject is young, you will have to think about a genetic syndrome!</div></div>","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"44 6","pages":"Pages 453-460"},"PeriodicalIF":0.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142401882","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":"Surcharges cutanées endogènes","authors":"Nicolas Ortonne","doi":"10.1016/j.annpat.2024.09.006","DOIUrl":"10.1016/j.annpat.2024.09.006","url":null,"abstract":"&lt;div&gt;&lt;div&gt;Comme dans les autres organes, le diagnostic des maladies de surcharge endogènes cutanées repose sur l’analyse histopathologique des lésions aidée de colorations spéciales, même si l’aspect clinique est parfois très évocateur. Les lésions sont parfois très discrètes pouvant s’intégrer dans le groupe des dermatoses « invisibles », comme pour l’amylose cutanée primitive maculeuse ou la calciphylaxie. La mélanose dermique superficielle ou incontinence pigmentaire traduit généralement le stade post-inflammatoire d’une dermatose lichénoïde dont l’évolution est chronique ou récidivante. Il convient d’effectuer systématiquement des niveaux de coupe pour rechercher des lésions actives d’intérêt diagnostique, une coloration par le bleu Alcian pour identifier une mucinose dermique (connectivites) et des marqueurs pan-T (érythème pigmenté fixe, mycosis fongoïde lichenoïde et vitiligo). Certaines dermatoses ont un impact pronostique, soit parce qu’elles témoignent d’une pathologie sous-jacente, les gammapathies monoclonales, notamment le myélome, étant une des affections les plus représentées dans ce contexte (amylose AL, xanthome et xanthogranulome, scléromyxœdème), soit parce qu’elles peuvent s’accompagner d’une atteinte viscérale (amylose AL, scléromyxœdème). La confrontation anatomoclinique est importante pour éliminer certains diagnostics différentiels, surtout pour les maladies engageant le pronostic vital : amylose nodulaire et amyloses cutanées primitives &lt;em&gt;versus&lt;/em&gt; amylose AL systémique, mucinose papuleuse &lt;em&gt;versus&lt;/em&gt; scléromyxœdème et panniculite calcifiante &lt;em&gt;versus&lt;/em&gt; calciphylacie.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;div&gt;As in other organs, the diagnosis of endogenous cutaneous overload diseases is based on histopathological analysis of the lesions using special stainings, even if the clinical appearance is sometimes very suggestive. The lesions are sometimes very subtle and can be included in the group of “invisible” dermatoses, such as primary macular cutaneous amyloidosis or calciphylaxis. Superficial dermal melanosis or pigmentary incontinence generally reflects the post-inflammatory stage of a chronic or recurrent interface dermatitis. Section levels should be systematically performed to look for active lesions of diagnostic interest: Alcian blue staining to identify dermal mucinosis (connectivitis) and pan-T markers (fixed pigmented erythema, lichenoid mycosis fungoides, and vitiligo). Some pathologies have a prognostic impact, either because they reflect an underlying disease, monoclonal gammopathies, in particular myeloma, being one of the most common conditions in this context (AL amyloidosis, xanthoma and xanthogranuloma, scleromyxedema), or because they can be associated with visceral damage (AL amyloidosis, scleromyxedema). The clinical-pathological comparison is mandatory to rule out differential diagnoses, especially for life-threatening diseases: nodular amyloidosis and primary cutaneous amyloidosis &lt;em&gt;versus&lt;/em&gt; systemic AL","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"44 6","pages":"Pages 476-485"},"PeriodicalIF":0.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378554","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":"Les dépôts : lésions élémentaires et dépôts fréquents","authors":"Eric Frouin","doi":"10.1016/j.annpat.2024.09.016","DOIUrl":"10.1016/j.annpat.2024.09.016","url":null,"abstract":"<div><div>Les maladies de dépôts sont un groupe de maladies hétérogènes caractérisées par l’accumulation pathologique de dépôts dans des cellules et/ou dans le milieu extracellulaire. La physiopathologie de ces dépôts est polymorphe et de nombreuses substances peuvent s’accumuler : substances endogènes, substances exogènes. Leurs conséquences seront variables, dépendant du tissu dans lequel l’accumulation a lieu. Le rôle du pathologiste est essentiel pour le diagnostic d’une maladie de dépôts et il dispose de nombreux outils pour le diagnostic et le typage de ces dépôts. Il s’agit le plus souvent de colorations spéciales, mais aussi de l’immunohistochimie, de l’immunofluorescence, de la microscopie électronique et de techniques plus innovantes comme la protéomique.</div></div><div><div>Deposit diseases are a group of heterogenous diseases characterized by the pathological accumulation of deposits in cells and/or in the extracellular environment. The pathophysiology of these deposits is polymorphic and numerous substances can accumulate: endogenous substances, exogenous substances. Their consequences will vary, depending on the tissue in which the accumulation takes place. The role of the pathologist is essential for the diagnosis of a deposit disease and (s)he has numerous tools at her/his disposal for the diagnosis and typing of these deposits. Special stains can be used, but also immunohistochemistry, immunofluorescence, electron microscopy and more innovative techniques such as proteomics.</div></div>","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"44 6","pages":"Pages 396-406"},"PeriodicalIF":0.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142480060","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}