Annales De Pathologie最新文献

{"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}

{"title":"Tumeur fibromyxoïde ossifiante (TFO) de la joue : une néoplasie distincte des tissus mous","authors":"","doi":"10.1016/j.annpat.2024.02.003","DOIUrl":"10.1016/j.annpat.2024.02.003","url":null,"abstract":"","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"44 6","pages":"Pages 514-516"},"PeriodicalIF":0.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140050966","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":"Pneumopathie lipidique exogène","authors":"Alice Guyard,&nbsp;Aurélie Cazes","doi":"10.1016/j.annpat.2024.09.003","DOIUrl":"10.1016/j.annpat.2024.09.003","url":null,"abstract":"<div><div>La pneumopathie lipidique exogène est une pathologie sous-diagnostiquée due à l’inhalation aiguë ou chronique de substances lipidiques (huile de paraffine, gouttes nasales…). L’aspect clinique et TDM est polymorphe allant de la maladie pulmonaire interstitielle fibrosante au nodule pseudo-tumoral. La clé du diagnostic TDM est une hypodensité graisseuse au sein de condensations. La clé du diagnostic histopathologique est la présence de macrovacuoles dans les macrophages, Oil-red-O<!--> <!-->+<!--> <!-->(sur matériel frais/congelé). Le diagnostic différentiel est représenté par la pneumopathie lipidique endogène, fréquente et associée à une obstruction bronchique, avec des remaniements nécrotiques, et des entités spécifiques comme la protéinose alvéolaire, les thésaurismoses (maladie de Niemann-Pick) ou le traitement à la cordarone.</div></div><div><div>Exogenous lipid pneumonia is an underdiagnosed pathology due to acute or chronic inhalation of lipid substances (paraffin oil, nasal drops, etc.). The clinical and CT appearance is polymorphic, ranging from fibrosing interstitial lung disease to a pseudo-tumoral nodule. The key to CT diagnosis is fatty hypodensity within condensations. The key to histopathological diagnosis is the presence of macrovacuoles in the macrophages, Oil-red-O<!--> <!-->+<!--> <!-->(on fresh/frozen material). The differential diagnosis is represented by endogenous lipid pneumonia, common and associated with bronchial obstruction, with necrotic changes, and specific entities such as alveolar proteinosis, hoarding (Niemann-Pick disease) or cordarone treatment.</div></div>","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"44 6","pages":"Pages 498-504"},"PeriodicalIF":0.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331814","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":"Corrigendum à « 47es Assises de Pathologie La Baule 16–17 mai 2024. Recueil des résumés des 10 Meilleurs Posters » [Ann. Pathol. (2024) 303–307]","authors":"","doi":"10.1016/j.annpat.2024.08.007","DOIUrl":"10.1016/j.annpat.2024.08.007","url":null,"abstract":"","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"44 6","pages":"Page 517"},"PeriodicalIF":0.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142593209","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":"Stéatose","authors":"Valérie Paradis","doi":"10.1016/j.annpat.2024.09.009","DOIUrl":"10.1016/j.annpat.2024.09.009","url":null,"abstract":"<div><div>La stéatose est définie par l’accumulation hépatocytaire de lipides. Différents types de stéatose sont décrits (macro-, médio- et microvacuolaire). La stéatose macrovacuolaire est une lésion fréquente, majoritairement observée au cours du syndrome métabolique et de la consommation excessive d’alcool. La stéatohépatite associe la stéatose, la présence d’hépatocytes ballonisés et des foyers inflammatoires lobulaires. La fibrose hépatique est la principale conséquence de la stéatohépatite. La biopsie hépatique est l’examen diagnostique de référence.</div></div><div><div>Steatosis is defined by hepatocyte accumulation of lipids. Different types of steatosis are described (macro-, medio- and microvacuolar). Macrovacuolar steatosis is a common lesion, mainly observed during metabolic syndrome and excessive alcohol consumption. Steatohepatitis combines steatosis, the presence of ballooned hepatocytes and lobular inflammatory foci. Liver fibrosis is the main consequence of steatohepatitis. Liver biopsy is the gold standard diagnostic test.</div></div>","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"44 6","pages":"Pages 470-475"},"PeriodicalIF":0.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395020","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":"Les surcharges hépatiques en fer","authors":"Bruno Turlin,&nbsp;Pierre Allaume","doi":"10.1016/j.annpat.2024.09.007","DOIUrl":"10.1016/j.annpat.2024.09.007","url":null,"abstract":"<div><div>Le fer est indispensable au fonctionnement cellulaire et de l’organisme dans son ensemble. La coloration de Perls permet l’identification histopathologique de dépôts sidériques. En classant les sidéroses hépatiques en parenchymateuse, mésenchymateuse ou mixte, il est possible d’orienter la recherche étiologique. L’hémochromatose HFE1 est la sidérose la plus fréquente. Son diagnostic repose actuellement sur l’analyse génétique. Son expressivité étant variable et sa pénétrance incomplète, la mise en évidence d’une sidérose hépatique peut représenter un mode de découverte.</div></div><div><div>Iron is essential for functioning of cells and of the body as a whole. Perls staining allows the histopathological identification of iron deposits. By classifying hepatic siderosis as parenchymal, mesenchymal or mixed, it may guide the search for its etiology. HFE1 hemochromatosis is the most common siderosis. Its diagnosis is currently based on genetic analysis. Its expressivity being variable and its penetrance incomplete, the demonstration of hepatic siderosis may represent a mode of discovery.</div></div>","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"44 6","pages":"Pages 461-469"},"PeriodicalIF":0.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378555","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":"Une curieuse lésion biphasique du sein","authors":"","doi":"10.1016/j.annpat.2023.12.011","DOIUrl":"10.1016/j.annpat.2023.12.011","url":null,"abstract":"<div><div>L’adénomyoépithéliome représente 0,5 % des tumeurs du sein de la femme ménopausée. Il est généralement de bon pronostic quand la tumeur est bénigne. En revanche, sa variante maligne est associée à un pronostic péjoratif avec un potentiel d’agressivité locale et métastatique marqué. Nous présentons le cas d’un adénomyoépithéliome malin, exposons la problématique de la classification OMS 2019 des adénomyoépithéliomes et proposons une classification en trois catégories : adénomyoépithéliome bénin, atypique et malin (in situ et invasif).</div></div><div><div>Adenomyoepithelioma represents 0.5% of breast tumors in postmenauposal women. Prognosis is good when the tumor is benign. However, its malignant variant is associated with a poor prognosis with local recurrences and metastatic potential. We present the case of a malignant adenomyoepithelioma, expose the 2019 WHO classification issues and propose a classification in three categories: benign, atypical and malignant adenomyoepitheliomas (in situ and invasive).</div></div>","PeriodicalId":50969,"journal":{"name":"Annales De Pathologie","volume":"44 6","pages":"Pages 510-513"},"PeriodicalIF":0.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139486783","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}