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":"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":"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}

{"title":"Maximizing diagnostic precision: Evaluating the combined Yokohama and BI-RADS scoring system for breast lesions","authors":"Sana Ahuja ,&nbsp;Aanchal Bhayana ,&nbsp;Sufian Zaheer","doi":"10.1016/j.patol.2024.100793","DOIUrl":"10.1016/j.patol.2024.100793","url":null,"abstract":"<div><h3>Background</h3><div>The diagnosis of breast cancer necessitates a multifaceted approach integrating cytopathological and radiological assessments. The International Academy of Cytology (IAC) Yokohama system and Breast Imaging Reporting and Data System (BI-RADS) are fundamental frameworks in this context. This study aims to evaluate the diagnostic potential of a combined Yokohama-BI-RADS scoring system for breast lesions.</div></div><div><h3>Materials and methods</h3><div>A retrospective analysis was conducted on fine needle aspirates from January to June 2023. The cases were classified using the IAC Yokohama system and sono-mammography BI-RADS score. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and diagnostic accuracy were calculated using histopathological diagnoses as the reference standard. Optimal cut-off scores for the combined scoring system were determined.</div></div><div><h3>Results</h3><div>Among 52 patients, cytological diagnoses encompassed non-diagnostic, benign, atypical, suspicious of malignancy, and malignant categories. BI-RADS scores ranged from 1 to 5. The combined Yokohama-BI-RADS score exhibited superior diagnostic accuracy (AUC: 0.986) compared to individual systems.</div></div><div><h3>Conclusion</h3><div>The combined Yokohama-BI-RADS scoring system represents a promising advancement in breast lesion evaluation, providing enhanced diagnostic precision by integrating cytopathological and radiological data. This approach has the potential to optimize clinical decision-making and contribute to improved patient outcomes in breast cancer management.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100793"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013599","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":"Axillary intranodal palisaded myofibroblastoma, a rare tumour at an unusual site, with literature review","authors":"Durre Aden,&nbsp;Minnat Sharma,&nbsp;Sufian Zaheer,&nbsp;Sunil Ranga","doi":"10.1016/j.patol.2024.100791","DOIUrl":"10.1016/j.patol.2024.100791","url":null,"abstract":"<div><div>Intranodal palisaded myofibroblastoma (IPM) arising in the axilla is an extremely rare, benign mesenchymal tumour. It is believed to originate from myofibroblast or smooth muscle cells and exhibits specific histopathological features. While there have been occasional cases of recurrence, no malignant transformation has been observed. We describe the case of a 35-year-old male presenting with an axillary mass. Histopathology revealed a tumour with a pseudo-capsule that contains compressed lymphoid tissue with spindle cells arranged in a palisade-like pattern and extravasation of red blood cells within the spindle cells. Additionally, amianthoid fibres and fuchsinophilic bodies are present. Immunohistochemical analysis typically was positive for SMA and cyclin D1, with a low proliferative index (Ki67 of &lt;1%). The diagnosis was intranodal palisading myofibroblastoma. Only two cases of IPM in the axilla have been previously reported. Pathologists should keep this rare entity with characteristic histopathological findings in mind when reporting such tumours at an unusual site.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100791"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075719","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}