Revista Espanola de Patologia最新文献

{"title":"Cytomorphological diagnosis of sarcoidosis using EBUS-TBNA in a tuberculosis-endemic region","authors":"Sumanta Das ,&nbsp;Adil Aziz Khan ,&nbsp;Annmy Jose","doi":"10.1016/j.patol.2024.100798","DOIUrl":"10.1016/j.patol.2024.100798","url":null,"abstract":"<div><h3>Background</h3><div>Sarcoidosis, a granulomatous inflammatory disease, exhibits diverse clinical manifestations, often affecting multiple organs. Diagnostic challenges arise due to its similarities with tuberculosis, particularly in high-burden areas. Differentiating between the two relies on clinical judgment, laboratory tests, imaging, and invasive procedures. Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) has emerged as a valuable diagnostic tool, enhancing both accuracy and patient care.</div></div><div><h3>Material and methods</h3><div>This study enrolled 279 suspected sarcoidosis cases, evaluated via EBUS-TBNA between November 2022 and August 2023. The inclusion criteria comprised intrathoracic lymphadenopathy on CT, with subsequent diagnoses of either sarcoidosis or tuberculosis. Clinical, radiological, and laboratory assessments, along with EBUS-TBNA, were conducted. Cytopathological analysis focused on the presence of granulomas, histiocytic clusters, lymphocyte depletion, and necrosis, which aided in diagnosis. Statistical analysis was conducted using SPSS software to evaluate sensitivity, specificity, and predictive values.</div></div><div><h3>Results</h3><div>Out of 279 patients, 178 were diagnosed with sarcoidosis and 90 with tuberculosis. Adequate TBNA samples were obtained in 240 cases, predominantly from male patients. Negative tuberculin skin tests and negative culture studies were significant findings in the sarcoidosis cases (<em>p</em> <!-->&lt;<!--> <!-->0.0001). Echotexture and necrosis were distinguishing features of tuberculosis, while granulomas and histiocyte patterns varied. The sensitivity and specificity for diagnosing sarcoidosis via cytomorphology were notable, particularly when combined with negative microbiological findings.</div></div><div><h3>Conclusion</h3><div>Cytomorphological analysis via EBUS-TBNA significantly aids in the diagnosis of sarcoidosis, despite overlapping features with tuberculosis. The absence of necrosis and distinctive granuloma characteristics contribute to its high sensitivity and specificity. Radiological correlations and microbiological findings further enhance diagnostic accuracy. This study underscores the importance of comprehensive evaluation in intrathoracic lymphadenopathies, highlighting the pivotal role of EBUS-TBNA in tuberculosis-endemic regions.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100798"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Histopathological changes of nervous tissue in women over 60 years of age with Alzheimer's disease and their relationship with menopause","authors":"Angel David Tarrá Marrugo","doi":"10.1016/j.patol.2024.100800","DOIUrl":"10.1016/j.patol.2024.100800","url":null,"abstract":"<div><h3>Introduction</h3><div>Ageing is a natural and irreversible process that primarily manifests in older age, becoming more common after the age of 60. Currently, a significant increase has been observed in the elderly population, with forecasts indicating that this group will triple in size over the next 50 years. This phenomenon is evident in several countries, including Japan, Mexico, Brazil, and Colombia, where the growing population of older adults is accompanied by an increased risk of neurodegenerative diseases, such as Alzheimer's disease. Studies have shown differences in the onset and progression of the disease between men and women, highlighting menopause and hormonal factors as key determinants in women. An association has been identified between a lower exposure to endogenous oestrogens and a higher risk of dementia in women, linked to the action of the enzyme β-secretase (BACE1), which is involved in the formation of amyloid aggregates associated with Alzheimer's disease. These findings highlight the importance of thoroughly investigating and understanding the impact of ageing and related diseases on the current and future population.</div></div><div><h3>Objective</h3><div>This study aims to describe the histopathological changes in nervous tissue in women over 60 years of age with Alzheimer's disease and their relationship to menopause.</div></div><div><h3>Methodology</h3><div>A comprehensive search was conducted in databases such as PubMed, ScienceDirect, Frontiers, Scopus, and Springer.</div></div><div><h3>Results</h3><div>Two hundred thirteen articles were selected for review and 45 full articles were chosen.</div></div><div><h3>Conclusions</h3><div>Alzheimer's disease is characterised by a progressive loss of cognitive function due to brain lesions, including the accumulation of amyloid-beta plaques and neuronal apoptosis. Hormonal changes during menopause may contribute to the onset of the disease.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100800"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Experience of Biology Degree students in the recognition of tissue alterations in human histopathological samples","authors":"Fernando Leiva-Cepas ,&nbsp;Cristina García-Caballero ,&nbsp;Julio Osuna-Soto ,&nbsp;Mercedes Vallejo-Mudarra ,&nbsp;María Isabel Burón ,&nbsp;José Antonio González-Reyes ,&nbsp;José Manuel Villalba ,&nbsp;Juan Antonio Moreno","doi":"10.1016/j.patol.2024.100794","DOIUrl":"10.1016/j.patol.2024.100794","url":null,"abstract":"<div><h3>Introduction</h3><div>The analysis of histological images plays a fundamental role in studying pathological alterations associated with human diseases, especially in the context of practical teaching. However, in the Biology Degree programme there is a lack of practical activities based on the study of human histological preparations.</div></div><div><h3>Material and methods</h3><div>A collaboration with an Anatomical Pathology department was established for this project, which aimed to carry out an innovative practice based on the study of human biopsies in the subject of Cell Biology and Cellular Pathology of the Biology Degree programme. Face-to-face and non-face-to-face activities were performed, involving group work, image search and selection for the preparation of digital material.</div></div><div><h3>Results</h3><div>This activity allowed for the identification of morphological changes caused by the deregulation of cellular processes in various diseases.</div></div><div><h3>Conclusions</h3><div>Our results indicate that students find this practice very useful for their training, so this activity could be applied to other similar subjects taught in other degree programmes.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100794"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143296488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ALK-rearranged primary mixed mucinous and non-mucinous lung adenocarcinoma: A case report","authors":"Daniel Felipe Mendivelso-González ,&nbsp;Catalina Castañeda-Motta ,&nbsp;Alfredo Ernesto Romero-Rojas ,&nbsp;Carlos Andrés Carvajal-Fierro ,&nbsp;Rafael Parra-Medina","doi":"10.1016/j.patol.2024.100796","DOIUrl":"10.1016/j.patol.2024.100796","url":null,"abstract":"<div><div>Lung cancer exhibits a diverse array of morphological manifestations and molecular changes, significantly influencing patient diagnosis, prognosis, and treatment strategies. We present the case of a 47-year-old man with a history of smoking, who presented to the emergency room with a 12-month history of haemoptysis. A chest computed tomography (CT) scan revealed a mass in the right upper lobe of the lung and bilateral lung nodules. He underwent a diagnostic wedge resection, which confirmed mixed mucinous and non-mucinous lung adenocarcinoma exhibiting acinar, papillary and micropapillary growth patterns. Molecular studies identified rearrangements in the <em>ALK</em> gene, and staging images revealed central nervous system and bone metastases. This case presents an unusual morphology of mixed mucinous and non-mucinous lung adenocarcinoma and highlights the importance of using immunohistochemical and molecular markers to determine tumour biology.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100796"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A SHOUT-OUT FOR ANATOMICAL PATHOLOGY!! We are key to diagnosis and clinical excellence!!","authors":"Santiago Ramón y Cajal Agüeras","doi":"10.1016/j.patol.2025.100818","DOIUrl":"10.1016/j.patol.2025.100818","url":null,"abstract":"","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100818"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143552896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Self-limited cutaneous Langerhans Cell Histiocytosis: A case report","authors":"Diego Sala Trull ,&nbsp;Cristina Ángeles Salido Capilla ,&nbsp;Victor Vivó Serrano ,&nbsp;Rafael Lázaro Santander","doi":"10.1016/j.patol.2024.100797","DOIUrl":"10.1016/j.patol.2024.100797","url":null,"abstract":"<div><div>Blueberry muffin baby syndrome is a condition initially described in 1960 to classify the cutaneous manifestations of newborns with rubella. Subsequently, congenital diseases related to TORCH syndrome and blood dyscrasias have been included under this syndrome. Among the conditions associated with this syndrome is Langerhans Cell Histiocytosis, an uncommon condition with variable involvement of one or more organs, often affecting the skin. One of its forms of presentation is Hashimoto–Pritzker disease, a self-limited congenital Langerhans Cell Histiocytosis with exclusively skin involvement. First described in 1973 and with approximately 100 reported cases, its presentation as part of the Blueberry muffin baby syndrome is infrequent. Its prognosis is excellent, but long-term follow-up is required due to the possibility of relapses or subsequent visceral involvement.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100797"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gestational trophoblastic neoplasia associated with a normal pregnancy with no evidence of uterine primary lesion","authors":"Angélica Yeyli Asencio Aguedo ,&nbsp;Omar Lorenzo Reyes Morales ,&nbsp;Ingrid Janina Juárez Chávez","doi":"10.1016/j.patol.2024.100788","DOIUrl":"10.1016/j.patol.2024.100788","url":null,"abstract":"<div><div>Gestational trophoblastic tumours are neoplasms that derive from trophoblastic tissue; therefore, their occurrence is generally intrauterine. We report the case of a 27-year-old woman with an ovarian tumour that arose during pregnancy. The patient did not have postpartum checkups and came to the clinic after eighteen months, presenting multiple lymphadenopathy predominantly in the cervical region, one of which was biopsied. In the microscopic study, the presence of syncytiotrophoblast-like cells supported the diagnosis of a metastasis of gestational trophoblastic neoplasia. The serum levels of bHCG were found to be elevated. Tomographic and ultrasound images did not show any uterine tumour. Immunohistochemistry allowed us to establish the diagnosis of placental site trophoblastic tumour metastasis.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100788"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"EBUS-TBNA and CryoEBUS of the mediastinal lymph node. One hundred seventy-eight cases. Validation of the WHO Reporting System for Lymph Node Cytopathology. Proposed CryoEBUS diagnostic flow chart and indications. The view of the interventional pathologist","authors":"Luis Manuel Fernández Fernández ,&nbsp;María de la Paz González Gutiérrez ,&nbsp;Miriam Rubiera ,&nbsp;Mario Luis Berrios Hernández ,&nbsp;Clara González Rodríguez ,&nbsp;Miguel Ariza Prota ,&nbsp;José Fernando Pérez Fontán ,&nbsp;Karen Villar Zarra ,&nbsp;Jesús Nieves-Alonso ,&nbsp;José Javier Gómez-Román ,&nbsp;María Dolores Lozano ,&nbsp;Miguel Ángel Pérez-Machado ,&nbsp;Enrique Colado Varela ,&nbsp;Héctor-Enrique Torres-Rivas","doi":"10.1016/j.patol.2024.100799","DOIUrl":"10.1016/j.patol.2024.100799","url":null,"abstract":"<div><h3>Introduction</h3><div>Microscopic assessment is essential in the study of mediastinal lymph nodes. Obtaining cytological samples through Endobronchial Ultrasound TransBronchial Needle Aspiration (EBUS-TBNA) has long been considered the gold standard procedure. The implementation of the World Health Organization (WHO) Reporting System for Lymph Node Cytopathology, along with the advancement of the CryoEBUS lymph node technique, has enhanced and refined diagnostic accuracy in this field.</div></div><div><h3>Materials and method</h3><div>During a two-year period, cases involving the parallel performance of EBUS-TBNA and CryoEBUS specimen collection were quantified. The implementation of the WHO Reporting System allowed for the comparison of diagnostic yield between cytological and CryoEBUS tissue samples.</div></div><div><h3>Results</h3><div>A total of 178 EBUS-TBNA and CryoEBUS procedures were conducted, with a mean patient age of 63 years and a male predominance of 72.5%. Lymph node station 7 was the most sampled site, accounting for 38.76% of cases. Category V – malignant was the most common cytological diagnosis, representing 50% of cases, while 46.62% of CryoEBUS samples were malignant. The Pearson correlation coefficient between the two methods was calculated at 0.99.</div></div><div><h3>Conclusions</h3><div>The combined implementation of the WHO Reporting System for Lymph Node Cytopathology and the simultaneous use of CryoEBUS resulted in enhanced performance and diagnostic accuracy, reducing non-diagnostic samples to less than 3%.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100799"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of a de-novo variant of the MEGF10 gene associated with EMARDD","authors":"Loubna Darfallah ,&nbsp;Najat Sifeddine ,&nbsp;Ghita Amalou ,&nbsp;Chaimaa Ait El Cadi ,&nbsp;Hamid Lakhiari ,&nbsp;Abdelhamid Barakat ,&nbsp;Hassan Rouba","doi":"10.1016/j.patol.2024.100795","DOIUrl":"10.1016/j.patol.2024.100795","url":null,"abstract":"<div><div>Early-onset Myopathy, Areflexia, Respiratory Distress and Dysphagia (EMARDD) is a congenital neuromuscular disease with a progressive muscle weakness, respiratory failure, joint contractures, and scoliosis without any symptoms of functional brain anomalies caused by variants in the <em>MEGF10</em> gene. Here, we report the clinical phenotype and genetic features of a Moroccan patient who carries a novel variant associated with EMARDD on the <em>MEGF10</em> gene. The Whole Exome Sequencing analysis conducted on a 11 year old boy with respiratory and swallowing difficulties revealed the presence of the novel variant c.978T&gt;A (p.Cys326Ter) on exon 9 of the <em>MEGF10</em> gene; this variant is thought to be associated with EMARDD. Our study reports the first nonsense pathogenic de novo variant in <em>MEGF10</em> associated with EMARDD worldwide, identified in a Moroccan patient.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100795"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Malignant adenomyoepithelioma after breast cancer with multiple local recurrences","authors":"Gelblung Brian ,&nbsp;Quenardelle Mariano ,&nbsp;Risau Estefanía ,&nbsp;Spengler Eunice ,&nbsp;Beccar Varela Eduardo","doi":"10.1016/j.patol.2024.100792","DOIUrl":"10.1016/j.patol.2024.100792","url":null,"abstract":"<div><div>Malignant adenomyoepithelioma of the breast is a rare and challenging tumor in terms of diagnosis and treatment. It is exceptional to find this condition in a patient who has had breast cancer treated with breast-conserving surgery and radiotherapy. We present the case of a 46-year-old female patient with a history of invasive lobular carcinoma of the breast, who presented one year later with a malignant adenomyoepithelioma in the same breast, which recurred three times, despite undergoing various surgical treatments and even adjuvant chemotherapy regimen. The limited evidence and lack of consensus in the management of this type of tumor highlight the importance of a multidisciplinary approach. Upon reviewing the literature, we observed extensive heterogeneity in treatments and the lack of a gold standard. We believe that surgery is the cornerstone of treatment, and that both chemotherapy and radiotherapy may have a benefit that is still unknown.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100792"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}