Revista Espanola de Patologia最新文献

{"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}

{"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}

{"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":"High-risk neuroblastoma: ATRX and TERT as prognostic markers and therapeutic targets. Review and update on the topic","authors":"Grecia Gonzales-Céspedes,&nbsp;Samuel Navarro","doi":"10.1016/j.patol.2024.100790","DOIUrl":"10.1016/j.patol.2024.100790","url":null,"abstract":"<div><div>High-risk neuroblastoma continues to show a very high mortality, with a 5-year survival rate of 50%. While MYCN amplification is the main genetic alteration associated with high-risk tumours, other molecular mechanisms, such as alterations in ATRX and TERT, remain poorly understood.</div><div>ATRX and TERT biomarkers, which are associated with a more aggressive neuroblastoma pattern, should be considered for accurate prognostic stratification.</div><div>We highlight the promising results of the clinical trial involving the combination of adavosertib and irinotecan, which encourages further clinical trials with adavosertib targeting NB with ATRX mutations. Preclinical results with BET inhibitors (OTX015 and AZD5153) and with 6-thio-2′-deoxyguanosine, targeting NB with TERT mutations, are promising. Both represent future therapeutic targets, emphasizing the need to prioritize research using these models.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100790"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967234","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":"ChatGPT is an above-average student at the Faculty of Medicine and the development of teaching materials: Comment","authors":"Hinpetch Daungsupawong ,&nbsp;Viroj Wiwanitkit","doi":"10.1016/j.patol.2024.100789","DOIUrl":"10.1016/j.patol.2024.100789","url":null,"abstract":"","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100789"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143156318","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}