Revista Espanola de Patologia最新文献

Next generation sequencing unravels a gliosarcoma mimicking cerebral osteosarcoma 下一代测序揭示了一种模拟脑骨肉瘤的胶质肉瘤

Revista Espanola de Patologia Pub Date : 2025-05-10 DOI: 10.1016/j.patol.2025.100825

Clara Marti-Macia , Lara Navarro , Teresa San-Miguel , Javier Megias , Javier Carbonell-Zamorano , Moisés Sanchez-Pardo , Esther Roselló-Sastre

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 : 2025-04-19 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

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 : 2025-04-18 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

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 : 2025-04-18 DOI: 10.1016/j.patol.2025.100822

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

引用次数: 0

Bilateral primary ovarian clear cell carcinoma in a multiparous perimenopausal woman 多产围绝经期妇女双侧原发性卵巢透明细胞癌1例

Revista Espanola de Patologia Pub Date : 2025-04-18 DOI: 10.1016/j.patol.2025.100823

Adil Aziz Khan, Neeti Nagar, Charanjeet Ahluwalia, Sana Ahuja

{"title":"Bilateral primary ovarian clear cell carcinoma in a multiparous perimenopausal woman","authors":"Adil Aziz Khan, Neeti Nagar, Charanjeet Ahluwalia, Sana Ahuja","doi":"10.1016/j.patol.2025.100823","DOIUrl":"10.1016/j.patol.2025.100823","url":null,"abstract":"<div><div>Primary ovarian clear cell carcinoma (OCCC) is a rare subtype of epithelial ovarian carcinoma (EOC), accounting for 5–10% of EOCs in the U.S., with a higher prevalence in East Asia. It is characterized by clear cells forming solid, tubular, or papillary patterns, and presents diagnostic challenges due to its resemblance to renal clear cell carcinomas. Typically affecting nulliparous postmenopausal women, OCCC is associated with high recurrence rates and low sensitivity to platinum-based chemotherapy. We report a case of bilateral primary OCCC in a 45-year-old multiparous woman with no history of endometriosis. She presented with lower abdominal pain and swelling persisting for 7–8 months. Imaging revealed a large, heterogeneous abdominopelvic mass. Surgery included total abdominal hysterectomy with bilateral salpingo-oophorectomy. Histopathological and immunohistochemical analyses confirmed bilateral OCCC, with positive staining for AMACR, Napsin A, and PAX8, and negative results for WT1, ER, and PR. This case highlights the importance of thorough diagnostic evaluation in atypical presentations. The postoperative course was uneventful, and she subsequently received adjuvant therapy.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 3","pages":"Article 100823"},"PeriodicalIF":0.0,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143843812","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 : 2025-04-17 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