Revista Espanola de Patologia最新文献_第6页

Identification of germline mutations in DICER1 through routine somatic NGS analysis in various neoplasms 通过常规体细胞NGS分析在各种肿瘤中鉴定DICER1的种系突变

Revista Espanola de Patologia Pub Date : 2025-10-01 Epub Date: 2025-07-07 DOI: 10.1016/j.patol.2025.100834

Leticia Gracia Sáenz , Svetlana Shalygina , Reyes Roca , Samanta Ortuño , Jose Luis Soto , Maria Tasso , Ana Beatriz Sánchez , Artemio Payá , Cristina Alenda

引用次数: 0

Epidemiology of glomerular diseases in a Colombian population 哥伦比亚人群肾小球疾病的流行病学研究

Revista Espanola de Patologia Pub Date : 2025-07-01 Epub Date: 2025-02-25 DOI: 10.1016/j.patol.2025.100813

Joaquín Rodelo-Ceballos , Wilson Fernando Chávez-Gómez , Alejandra Taborda-Murillo , Luis Fernando Arias

{"title":"Epidemiology of glomerular diseases in a Colombian population","authors":"Joaquín Rodelo-Ceballos , Wilson Fernando Chávez-Gómez , Alejandra Taborda-Murillo , Luis Fernando Arias","doi":"10.1016/j.patol.2025.100813","DOIUrl":"10.1016/j.patol.2025.100813","url":null,"abstract":"<div><h3>Background</h3><div>Glomerular diseases are a diverse group of conditions with variations in clinical presentation, pathophysiology, diagnosis, and treatment. Renal biopsy is essential for determining their aetiology and prognosis.</div></div><div><h3>Objective</h3><div>To describe the epidemiology of glomerular diseases based on histopathological studies conducted in the Department of Pathology at the School of Medicine, University of Antioquia, Colombia, between 1988 and 2023.</div></div><div><h3>Materials and methods</h3><div>A retrospective, descriptive, cross-sectional study was conducted on patients with glomerular disease who underwent renal biopsy between 1988 and 2023. A descriptive analysis was performed on their sociodemographic, clinical, laboratory, and pharmacological characteristics.</div></div><div><h3>Results</h3><div>A total of 4567 histopathology reports were analysed. Of these, 56.6% were from women, with an average age of 32 years. Nephrotic syndrome was the most common indication for renal biopsy (35.0%). Lupus nephritis was the most prevalent diagnosis (28.2%), followed by focal segmental glomerulosclerosis (16.6%). In adults, lupus nephritis and focal segmental glomerulosclerosis were the most frequent diagnoses, while in children, minimal change disease and focal segmental glomerulosclerosis were the most common.</div></div><div><h3>Conclusions</h3><div>The type of glomerular disease varies according to sociodemographic factors such as age and sex. Lupus nephritis and focal segmental glomerulosclerosis were the most common glomerular diseases. The main indications for biopsy were nephrotic syndrome and abnormal urinary sediment.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 3","pages":"Article 100813"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143477985","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}

引用次数: 0

Mucopolysaccharidoses type VII (Sly syndrome): New uncertain pathogenic variants in GUSB gene 粘多糖病VII型（Sly综合征）：GUSB基因新的不确定致病变异

Revista Espanola de Patologia Pub Date : 2025-07-01 Epub Date: 2025-02-20 DOI: 10.1016/j.patol.2025.100814

Emilio I. Abecia Martínez , Jorge Puente Prieto , Jorge Luis Delgado Fernández , Javier Martínez Castillón , Carlos Nagore González , Lucia Ferrando Lamana

{"title":"Mucopolysaccharidoses type VII (Sly syndrome): New uncertain pathogenic variants in GUSB gene","authors":"Emilio I. Abecia Martínez , Jorge Puente Prieto , Jorge Luis Delgado Fernández , Javier Martínez Castillón , Carlos Nagore González , Lucia Ferrando Lamana","doi":"10.1016/j.patol.2025.100814","DOIUrl":"10.1016/j.patol.2025.100814","url":null,"abstract":"<div><div>Mucopolysaccharidoses (MPS) are a group of diseases caused by the accumulation of glycosaminoglycans (GAGs). Currently, eleven enzyme deficiencies have been described, with eight different MPS subtypes reported. MPS VII, also known as Sly syndrome, is a recessive disorder caused by pathogenic variants in the <em>GUSB</em> gene. This results in dysfunction of the enzyme β-glucuronidase, which can lead to non-immune hydrops fetalis (NIHF). The patient was a 22-week foetus with pathological nuchal translucency and unfavourable prognosis based on radiological criteria; as a result, both parents opted to terminate the pregnancy. Post mortem examination revealed several hallmarks of NIHF. Moreover, microscopic examination showed widespread histiocytes with microvacuolated cytoplasm. Genetic testing demonstrated biallelic variants in exon 8 of the <em>GUSB</em> gene, but both of uncertain meaning. Subsequent histological findings suggested that these <em>GUSB</em> gene variants resulted in MPS VII.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 3","pages":"Article 100814"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143444790","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}

引用次数: 0

Multidisciplinary approach to reach a foetal diagnosis of Walker-Warburg syndrome: From autopsy to genetics and back 多学科方法达到胎儿诊断沃克-沃堡综合征：从尸检到遗传学和背部

Revista Espanola de Patologia Pub Date : 2025-07-01 Epub Date: 2025-04-18 DOI: 10.1016/j.patol.2025.100827

Anna Sifre-Ruiz , Cristina Esquina-Rodriguez , Africa Manero-Azua , Iñigo Gorostiaga , Guiomar Perez de Nanclares

引用次数: 0

Papillary thyroid carcinoma with fibromatosis/fasciitis-like/desmoid-type stroma: When to suspect and how to diagnose 甲状腺乳头状癌合并纤维瘤病/筋膜炎样/硬纤维瘤样间质：何时怀疑及如何诊断

Revista Espanola de Patologia Pub Date : 2025-07-01 Epub Date: 2025-04-19 DOI: 10.1016/j.patol.2025.100819

Judith González-López, Luis Rubio-Martínez, Carlos Zac-Romero, Mireya Prieto-Rodríguez, Nuria Mancheño-Franch

引用次数: 0

Diagnostic utility of bronchoalveolar lavage in pulmonary disorders 支气管肺泡灌洗在肺部疾病中的诊断价值

Revista Espanola de Patologia Pub Date : 2025-07-01 Epub Date: 2025-06-12 DOI: 10.1016/j.patol.2025.100830

Niti Sureka, Smriti Sharan, Charanjeet Ahluwalia, Sana Ahuja, Sunil Ranga

{"title":"Diagnostic utility of bronchoalveolar lavage in pulmonary disorders","authors":"Niti Sureka, Smriti Sharan, Charanjeet Ahluwalia, Sana Ahuja, Sunil Ranga","doi":"10.1016/j.patol.2025.100830","DOIUrl":"10.1016/j.patol.2025.100830","url":null,"abstract":"<div><h3>Background</h3><div>Pulmonary diseases represent a significant global health challenge, underscoring the need for accurate diagnostic methods to ensure effective management. Bronchoalveolar lavage (BAL) is an essential diagnostic tool, providing valuable insights into various lung conditions. However, despite its widespread application in pulmonology, limited studies have thoroughly evaluated its diagnostic value.</div></div><div><h3>Materials and methods</h3><div>A retrospective cohort study was conducted over one year to assess the diagnostic utility of BAL. Samples were obtained from patients undergoing BAL as part of their diagnostic workup. Demographic and clinicoradiological data were documented. The BAL fluids were processed and evaluated cytologically, with samples classified into diagnostic categories. In malignant cases, histopathological correlation was performed.</div></div><div><h3>Results</h3><div>A total of 187 BAL fluid samples were analysed, yielding diagnoses that included malignancy (7%), specific infections (6%), inflammatory conditions (43%), and others. BAL demonstrated high efficacy in identifying malignancies (PPV: 85%) and specific infections such as tuberculosis and fungal pneumonia. Histological correlation confirmed the diagnostic accuracy of BAL in malignancies, with a concordance rate of 78%.</div></div><div><h3>Conclusion</h3><div>BAL has proven to be a reliable method for detecting both neoplastic and non-neoplastic lung lesions. Its minimally invasive nature makes it a preferred alternative to needle biopsies, particularly in critically ill patients. Even when findings are nonspecific, BAL helps narrow down differential diagnoses. Additionally, the samples obtained can be used for molecular and microbiological analyses, further enhancing its diagnostic capabilities.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 3","pages":"Article 100830"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144262540","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}

引用次数: 0

Walking Together Towards Commitment and Excellence in Anatomical Pathology: A Shared Future 共同走向解剖病理学的承诺和卓越：共同的未来

Revista Espanola de Patologia Pub Date : 2025-07-01 Epub Date: 2025-07-15 DOI: 10.1016/j.patol.2025.100835

Lola Lozano

引用次数: 0

Systematic review and meta-analysis of the Papanicolaou Society of Cytopathology (PSC) system in diagnosing pancreatic lesions: Evaluating diagnostic accuracy Papanicolaou细胞病理学学会（PSC）系统诊断胰腺病变的系统回顾和荟萃分析：评估诊断准确性

Revista Espanola de Patologia Pub Date : 2025-07-01 Epub Date: 2025-04-09 DOI: 10.1016/j.patol.2025.100820

Sana Ahuja , Marzieh Fattahi-Darghlou , Sufian Zaheer

{"title":"Systematic review and meta-analysis of the Papanicolaou Society of Cytopathology (PSC) system in diagnosing pancreatic lesions: Evaluating diagnostic accuracy","authors":"Sana Ahuja , Marzieh Fattahi-Darghlou , Sufian Zaheer","doi":"10.1016/j.patol.2025.100820","DOIUrl":"10.1016/j.patol.2025.100820","url":null,"abstract":"<div><h3>Introduction</h3><div>The Papanicolaou system plays a vital role in cytological evaluation, particularly in the diagnosis of pancreatic lesions. However, there is a lack of comprehensive evaluation regarding its diagnostic accuracy in pancreatic fine needle aspirations (FNAs). This study seeks to address this gap by conducting a systematic review and meta-analysis to assess the diagnostic accuracy of the Papanicolaou Society of Cytopathology (PSC) system in diagnosing pancreatic lesions.</div></div><div><h3>Methods</h3><div>A systematic search of PubMed and EMBASE databases was conducted up to March 20, 2024, using predefined search terms related to pancreas, fine needle aspiration biopsy (FNAB), and diagnostic accuracy. The selected articles were assessed for risk of bias using the QUADAS-2 tool. A meta-analysis for sensitivity and specificity for each cut-off – namely, “Atypical considered positive”, “Neoplastic considered positive”, “Suspicious of Malignancy considered positive,” and “Malignant considered positive” – was performed after excluding inadequate samples in each study. To assess diagnostic accuracy, summary receiver operating characteristic (sROC) curves were constructed, and the diagnostic odds ratio (DOR) was pooled.</div></div><div><h3>Results</h3><div>Twelve studies met the inclusion criteria, comprising a total of 3604 cases. Sensitivity and specificity varied across the PSC categories, with the “Malignant” category showing the highest sensitivity (70%) and specificity (99%). The “Suspicious for malignancy and higher risk categories” demonstrated high sensitivity (81%) and specificity (97%).</div></div><div><h3>Conclusion</h3><div>This meta-analysis underscores the accuracy of the PSC system in reporting pancreatic aspirates. It highlights the significance of the “Suspicious” and “Malignant” categories in diagnosing malignancy, as well as the “Benign” and “Atypical” categories in ruling out malignancy.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 3","pages":"Article 100820"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143799010","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}

引用次数: 0

External quality assessment for EGFR exon 20 mutation testing in patients with non-small cell lung cancer in Spain 西班牙非小细胞肺癌患者EGFR外显子20突变检测的外部质量评估

Revista Espanola de Patologia Pub Date : 2025-07-01 Epub Date: 2025-04-17 DOI: 10.1016/j.patol.2025.100824

Michele Biscuola , Ana Belén Enguita , Yolanda Ruano , Lourdes Gómez , Teresa Hernández-Iglesias , Antonio Martínez , Santiago Ramón y Cajal , José Luis Rodríguez Peralto

{"title":"External quality assessment for EGFR exon 20 mutation testing in patients with non-small cell lung cancer in Spain","authors":"Michele Biscuola , Ana Belén Enguita , Yolanda Ruano , Lourdes Gómez , Teresa Hernández-Iglesias , Antonio Martínez , Santiago Ramón y Cajal , José Luis Rodríguez Peralto","doi":"10.1016/j.patol.2025.100824","DOIUrl":"10.1016/j.patol.2025.100824","url":null,"abstract":"<div><h3>Introduction and aim</h3><div>Non-small cell lung cancer (NSCLC) can arise from insertions in exon 20 of the <em>EGFR</em> gene, among other alterations. We carried out an external quality assessment (EQA) to evaluate the accuracy of laboratory methods and to highlight the importance of detecting and identifying genetic alterations, such as <em>EGFR</em> exon 20 insertion, in patients with NSCLC.</div></div><div><h3>Materials and methods</h3><div>The 2021 <em>EGRF</em> exon 20 EQA program consisted of two rounds, in which four formalin-fixed paraffin-embedded specimens (round 1: two positive for <em>EGFR</em> exon 20 insertions/duplications, one positive for a common <em>EGFR</em> alteration, and one wild-type; round 2: three positive for <em>EGFR</em> exon 20 insertions/duplications and one wild-type) obtained from patients with NSCLC were tested.</div></div><div><h3>Results</h3><div>Approximately 80% of the invited laboratories participated in each round. The most common DNA isolation techniques used were the cobas® DNA Sample Preparation Kit (46.7%) in round 1 and QIAamp (37.1%) in round 2. The most frequently used genotyping method in both rounds was the cobas® EGFR Mutation Test (round 1: 53.3%; round 2: 37.1%). In both rounds, 71.1% and 73.6% of the tests, respectively, reported the expected result. The lowest success rate was observed in the H773delinsRY Exon 20 determination (round 1: 17.8%; round 2: 31.4%). This alteration was correctly determined only by next-generation sequencing.</div></div><div><h3>Conclusions</h3><div>The variability in the genotyping methods and the success rate obtained in our study highlight the importance of EQA in Spain to ensure high performance.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 3","pages":"Article 100824"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143843810","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}

引用次数: 0

Pathological insights into small cell osteosarcoma: A rare case report highlighting diagnostic approaches with a literature review 病理洞察小细胞骨肉瘤：一个罕见的病例报告强调诊断方法与文献回顾

Revista Espanola de Patologia Pub Date : 2025-07-01 Epub Date: 2025-04-18 DOI: 10.1016/j.patol.2025.100822

Bhaskar Narayan, Kuldeep Singh, Jeyaseelan Augustine, Aadithya B. Urs

引用次数: 0