Revista Espanola de Patologia最新文献_第2页

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 : 2025-04-17 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":"2025-04-17","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

Synchronous adenocarcinoma of the endometrium and colon in a woman with Lynch syndrome associated with a mutation of the MSH6 gene Lynch综合征女性与MSH6基因突变相关的子宫内膜和结肠同步腺癌

Revista Espanola de Patologia Pub Date : 2025-04-10 DOI: 10.1016/j.patol.2025.100826

Andrés Felipe Valencia Cardona , Jhoan Sebastián Cruz Barbosa , Armando Cortés Buelvas

{"title":"Synchronous adenocarcinoma of the endometrium and colon in a woman with Lynch syndrome associated with a mutation of the MSH6 gene","authors":"Andrés Felipe Valencia Cardona , Jhoan Sebastián Cruz Barbosa , Armando Cortés Buelvas","doi":"10.1016/j.patol.2025.100826","DOIUrl":"10.1016/j.patol.2025.100826","url":null,"abstract":"<div><h3>Introduction</h3><div>Lynch syndrome (LS) is an autosomal dominant genetic condition, accounting for an estimated prevalence of 2–3% of the causes of hereditary colorectal carcinoma. In addition, it increases the risk of endometrial and ovarian cancer, among others.</div></div><div><h3>Case report</h3><div>A 56-year-old woman with a 6-month history of pelvic pain, dyspareunia and hypermenorrhoea. Family history: her mother died of endometrial cancer at the age of 71, and her younger brother died of gastric cancer at the age of 61. A transvaginal ultrasound revealed a 20mm thickening of the endometrium, and the biopsy showed a FIGO 2 endometrioid carcinoma. Abdominal MRI demonstrated diffuse thickening of the rectum, while colonoscopy revealed an infiltrative, ulcerated tumour lesion in the sigmoid colon and a lesion in the rectum, consistent with invasive adenocarcinoma of the colon and adenoma with high-grade dysplasia in the rectal biopsy. Simultaneous surgical resection was indicated. A molecular panel confirmed a mutation in the MSH6 gene, confirming Lynch syndrome.</div></div><div><h3>Conclusions</h3><div>A rare case of Lynch syndrome associated with an MSH6 gene mutation, diagnosed with synchronous endometrial carcinoma and adenocarcinoma of the sigmoid colon.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 3","pages":"Article 100826"},"PeriodicalIF":0.0,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143808274","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

Multicystic peritoneal mesothelioma with floret-like multinucleated giant cells: A case report 腹膜多囊间皮瘤伴小花样多核巨细胞1例

Revista Espanola de Patologia Pub Date : 2025-04-10 DOI: 10.1016/j.patol.2025.100828

Robert Ricardo Rodríguez Carpio, Carlos Hörndler Argarate, Sandra Vicente Arregui, María Francisca Perulero Martín, Leticia Ollero Domenche

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 : 2025-04-09 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":"2025-04-09","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

Pulmonary angiostrongyliasis: Two cases of atypical manifestations of Angiostrongylus costaricensis in Guatemala 肺管圆线虫病：两例非典型表现的管圆线虫在危地马拉

Revista Espanola de Patologia Pub Date : 2025-04-08 DOI: 10.1016/j.patol.2025.100821

Juan Carlos Santis-Mejía, Roberto Orozco, Victor Argueta

引用次数: 0

Many thanks to everyone!! Let's keep pushing forward!! 非常感谢大家！让我们继续前进！！

Revista Espanola de Patologia Pub Date : 2025-04-01 DOI: 10.1016/j.patol.2025.100829

Santiago Ramón, Cajal Agüeras, Empar Mayordomo, Francesc Tresserra

引用次数: 0

Cytomorphological patterns in bronchoalveolar lavage in the diagnostic evaluation of pulmonary diseases 支气管肺泡灌洗细胞形态学对肺部疾病的诊断价值

Revista Espanola de Patologia Pub Date : 2025-03-17 DOI: 10.1016/j.patol.2025.100803

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

{"title":"Cytomorphological patterns in bronchoalveolar lavage in the diagnostic evaluation of pulmonary diseases","authors":"Smriti Sharan, Niti Sureka, Charanjeet Ahluwalia, Sana Ahuja, Sunil Ranga","doi":"10.1016/j.patol.2025.100803","DOIUrl":"10.1016/j.patol.2025.100803","url":null,"abstract":"<div><h3>Background</h3><div>Bronchoalveolar lavage (BAL) cytology is a well-established diagnostic tool for respiratory tract lesions. The analysis of cellular patterns in BAL cytology provides useful information about infectious, inflammatory, and neoplastic lung diseases. This study aimed to analyze bronchoalveolar lavage fluid to investigate various cellular patterns in BAL cytology in different pulmonary diseases.</div></div><div><h3>Material and methods</h3><div>This retrospective study was conducted in the Department of Pathology and included BAL cytology samples from 182 patients between January 2022 and July 2023.</div></div><div><h3>Results</h3><div>Of the 182 cases, 116 (63.7%) were male and 66 (36.3%) were female. Thirty-seven (20%) cases showed a predominantly neutrophilic cellular pattern, while 61 (33.5%) showed a lymphocytic pattern. Two (1%) cases showed a mixed cellular pattern, including eosinophils. In 32 (17.5%) cases, patterns indicating specific aetiology were identified, the most common being AFB-positive granulomatous inflammation (4.3%), followed by fungal hyphae (1.6%). Malignant cells were seen in 15 (8.2%) cases, with the most common pattern being cells arranged in an acinar pattern, indicative of adenocarcinoma. A rare case of pulmonary alveolar proteinosis was diagnosed based on the presence of PAS-positive extracellular granular to globular material in cytology.</div></div><div><h3>Conclusion</h3><div>In the era of minimally invasive procedures, BAL cytology analysis stands out as a valuable tool for diagnosing various lung diseases. It aids in the diagnostic workup for many diseases, including those of tubercular, fungal, and neoplastic aetiology. Combining clinical details, radiological information, and BAL cytology can help provide a definitive diagnosis and avoid invasive procedures.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 2","pages":"Article 100803"},"PeriodicalIF":0.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143631826","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

Comparative analysis of Ki-67, α-SMA, and MMP-9 expression in oral submucous fibrosis and oral leukoplakia with/without dysplasia: Insights into malignant transformation mechanisms Ki-67、α-SMA和MMP-9在口腔黏膜下纤维化和伴/不伴不典型增生的口腔白斑中表达的比较分析：对恶性转化机制的见解

Revista Espanola de Patologia Pub Date : 2025-03-17 DOI: 10.1016/j.patol.2025.100804

Sneha Masne Deshpande , Sheetal Choudhary , Sangeeta Patankar , Palak Khetan , Girish Sadaphule , Sanpreet Singh Sachdev

{"title":"Comparative analysis of Ki-67, α-SMA, and MMP-9 expression in oral submucous fibrosis and oral leukoplakia with/without dysplasia: Insights into malignant transformation mechanisms","authors":"Sneha Masne Deshpande , Sheetal Choudhary , Sangeeta Patankar , Palak Khetan , Girish Sadaphule , Sanpreet Singh Sachdev","doi":"10.1016/j.patol.2025.100804","DOIUrl":"10.1016/j.patol.2025.100804","url":null,"abstract":"<div><h3>Background</h3><div>The present study aimed to comparatively analyze the immunoexpression of Ki-67, Alpha Smooth Muscle Actin (α-SMA), and Matrix Metalloproteinase-9 (MMP-9) between Oral Leukoplakia (OL) and Oral Submucous Fibrosis (OSMF), both with and without dysplasia. The objective was to determine the potential role of these biomarkers in the diagnosis and prognostication of oral potentially malignant disorders (OPMDs) and their potential as targets for interventions.</div></div><div><h3>Materials and methods</h3><div>Immunohistochemical staining for Ki-67, α-SMA, and MMP-9 was performed on seventy formalin-fixed paraffin-embedded tissue blocks, comprising normal buccal mucosa (<em>n</em>  =30), and OL (<em>n</em>  <0.001) in OSMF compared to OL for the respective dysplastic counterparts. Additionally, OSMF with dysplasia exhibited a significantly higher expression (<em>p</em>  <!-->0.001) of these markers compared to OSMF without dysplasia.</div></div><div><h3>Conclusions</h3><div>The present study reports differences in cell proliferation rates, myofibroblast and MMP-9 expression between OSMF and OL. The higher expression of these markers in OSMF with dysplasia suggests accelerated disease progression and enhanced potential for transformation into oral squamous cell carcinoma (OSCC). These findings highlight variations in the tissue microenvironment of OPMDs, influencing their biological behaviour and prognosis.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 2","pages":"Article 100804"},"PeriodicalIF":0.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143631827","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

Impact of HPV detection and p16-Ki67 expression on prognosis in anal cancer patients HPV检测及p16-Ki67表达对肛门癌患者预后的影响

Revista Espanola de Patologia Pub Date : 2025-03-13 DOI: 10.1016/j.patol.2025.100806

Susana Pineda Contreras , Aracelly Quiroz Lagos , Joel Herrera Soto , Cristian Reyes Vergara , Tiare de la Barra Vivallos , Eliu Elgorriaga Islas , Sonia Montenegro Heredia

{"title":"Impact of HPV detection and p16-Ki67 expression on prognosis in anal cancer patients","authors":"Susana Pineda Contreras , Aracelly Quiroz Lagos , Joel Herrera Soto , Cristian Reyes Vergara , Tiare de la Barra Vivallos , Eliu Elgorriaga Islas , Sonia Montenegro Heredia","doi":"10.1016/j.patol.2025.100806","DOIUrl":"10.1016/j.patol.2025.100806","url":null,"abstract":"<div><h3>Introduction</h3><div>HPV infection has been associated with squamous cell carcinoma of the head and neck, genital tract and anal canal. HPV has two oncogenic genes, including E6 and E7, which are responsible for carcinogenesis. Ki67 and p16 have been used as biomarkers of HPV genome integration in the host cell.</div></div><div><h3>Aim</h3><div>To analyse the prognostic role of HPV status and p16/Ki67 expression in malignant lesions of the anal canal.</div></div><div><h3>Methods</h3><div>A retrospective study conducted from 2013 to 2016, including 40 biopsies.</div></div><div><h3>Results</h3><div>Histologic classification of the samples was: 9 samples of invasive carcinoma (ASCC); 9 of anal intraepithelial neoplasia (AIN) II/III; 8 condylomas; 14 non-tumoral lesions. For HPV detection we used nested-real time PCR for E6/E7. The determination of p16INK4a and Ki67 was carried out by immunohistochemistry. Additionally, demographic information was analysed. Among the 9 ASCC cases, 8 were p16-Ki67 positive and high-risk HPV positive. Of the 9 AIN II/III cases, 8 (88.8%) were HR-HPV and p16-Ki67 positive; all cancer cases were HPV-16. Out of the 8 condyloma cases, 2 (25%) were HR/LR HPV, 5 (62.5%) were LR-HPV, and 100% p16/Ki67 negative. Of the 14 non-tumoral lesions, all biomarkers tested negative.</div></div><div><h3>Discussion</h3><div>High- and low-risk HPV genotyping helps predict the prognosis of anal canal lesions. High-risk HPV infection and p16 overexpression are associated with malignant tumoral lesions.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 2","pages":"Article 100806"},"PeriodicalIF":0.0,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143620628","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

Nodular hidradenoma: Case report and brief literature review 结节性汗腺瘤：1例报告及简要文献复习

Revista Espanola de Patologia Pub Date : 2025-02-28 DOI: 10.1016/j.patol.2025.100801

Miguel Mansilla-Polo , Josselyn Andrea Hernández-Chinchilla , Margarita Llavador-Ros , Rafael Botella-Estrada

引用次数: 0