Revista Espanola de Patologia最新文献

{"title":"Opportunistic identification of Li-Fraumeni syndrome through germline TP53 variant detection from routine tumour next-generation sequencing: An analysis of 1394 cases","authors":"Svetlana Shalygina ,&nbsp;Artemio Payá Romá ,&nbsp;Alejandro Garzón Arana ,&nbsp;Leticia Gracia Sáenz ,&nbsp;José Luís Soto Martínez ,&nbsp;Cristina Alenda González","doi":"10.1016/j.patol.2026.100868","DOIUrl":"10.1016/j.patol.2026.100868","url":null,"abstract":"<div><h3>Background and objective</h3><div>Evaluation of a hybrid strategy (bioinformatics and clinical) for detecting germline pathogenic variants in TP53 from routine tumour NGS, addressing clonal haematopoiesis of indeterminate potential (CHIP) as a key confounding factor.</div></div><div><h3>Material and methods</h3><div>Retrospective analysis of 1394 cases (2019–2025). Initial filters: VAF &gt;40%, population rarity, and ACMG pathogenicity classification. Candidate variants were further refined using the Chompret criteria, with germline confirmation via Sanger sequencing in peripheral blood.</div></div><div><h3>Results</h3><div><em>TP53</em> variants were identified in 576 (41%) cases. The bioinformatics pipeline initially flagged 222 suspected cases; clinical curation narrowed these to 14 high-suspicion cases. Of these, 12/14 (85.7%) underwent confirmatory testing, while two were lost to follow-up, introducing a verification bias that should be considered when interpreting the overall PPV. Three LFS diagnoses were confirmed (overall positive predictive value [PPV]: 21.4%; confirmation rate among tested: 25%), all in paediatric patients (two adrenocortical carcinomas and one osteosarcoma). Notably, this included a <em>de novo</em> case without a family history. Conversely, no adult cases were confirmed despite high VAFs, highlighting specificity issues in this demographic. The number needed to screen (NNS) to detect one LFS patient was 465.</div></div><div><h3>Conclusions</h3><div>Our findings underscore the clinical utility of this combined approach, particularly its high efficiency in the paediatric population where it identified a <em>de novo</em> case missed by classical criteria. However, its utility in unselected adults appears limited without orthogonal assays to exclude CHIP, suggesting that age-specific strategies are necessary for opportunistic screening.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"59 2","pages":"Article 100868"},"PeriodicalIF":0.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595134","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":"Large bilateral labial fibroepithelial polyps with myxoid features: A case report and review of literature","authors":"Desiré Hernández Martínez ,&nbsp;Alejandra Mayoral Triana ,&nbsp;Alejandro Pascual Martín ,&nbsp;Luis Ortega Medina","doi":"10.1016/j.patol.2026.100862","DOIUrl":"10.1016/j.patol.2026.100862","url":null,"abstract":"<div><div>Fibroepithelial polyps are benign mesenchymal tumours that usually occur in skin folds, such as the axillae or groin. They are usually unilateral lesions measuring less than 5<!--> <!-->cm in their greatest dimension. We present the case of a 27-year-old woman with bilateral fibroepithelial polyps of the labia majora. This case is unusual not only because of the bilateral nature of the lesions, but also due to their size and the presence of a striking myxoid stroma on microscopic examination. When diagnosing vulval masses, it is essential to consider both benign and malignant conditions that may occur in this region.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"59 2","pages":"Article 100862"},"PeriodicalIF":0.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146167312","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":"Initial evaluation of the effectiveness of a new eco-friendly staining method: Purple corn-eosin staining","authors":"Gian Carlos Ramirez Ubillus ,&nbsp;José Sereno Aliaga ,&nbsp;Mercedes Bravo Taxa ,&nbsp;Renier Cruz Baca ,&nbsp;Gissell Tavera Veramatus ,&nbsp;Hendrick Escobar de la Cruz","doi":"10.1016/j.patol.2026.100871","DOIUrl":"10.1016/j.patol.2026.100871","url":null,"abstract":"<div><h3>Objective</h3><div>To determine the intertest agreement in the histopathological diagnosis using a new eco-friendly staining method, purple corn-eosin, compared with routine haematoxylin–eosin (H&amp;E) staining.</div></div><div><h3>Material and methods</h3><div>A cross-sectional study analysing 96 paraffin blocks from biopsies obtained at the Taxa Oncology Laboratory in Lima, Peru. New histological sections were obtained from each block, to which the new staining method was applied. These results were compared with the corresponding diagnoses from the reference H&amp;E staining.</div></div><div><h3>Results</h3><div>Using the reference method, the frequency of lesions suggestive of neoplasia or confirmed neoplasia was 39.6%. Also, at both baseline and 15 days later, observer 1 reported these diagnoses in 43.8% and 41.7% of cases, respectively, with a slightly lower frequency than observer 2 (45.8% and 42.7%, respectively). Inter-assay agreement between the purple corn-eosin method and the reference H&amp;E method was almost perfect (<em>κ</em> <!-->=<!--> <!-->0.91). Additionally, baseline interobserver agreement for the purple corn-eosin method was strong (<em>κ</em> <!-->=<!--> <!-->0.87), with a very small difference compared with the adjusted Kappa (<em>κ</em> <!-->=<!--> <!-->0.88). Similar results were observed at 15 days (<em>κ</em> <!-->=<!--> <!-->0.81 and <em>κ</em> <!-->=<!--> <!-->0.82, respectively).</div></div><div><h3>Conclusion</h3><div>This proposed staining method demonstrated optimal statistical reliability, in addition to eliminating the toxicity associated with its preparation compared with routine staining, suggesting a great potential for application in pathology laboratories worldwide.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"59 2","pages":"Article 100871"},"PeriodicalIF":0.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147594966","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":"Extracranial schwannomas of peripheral nervous system: An aesthetic challenge – A comprehensive analysis of 38 cases","authors":"Samikshya Thapa ,&nbsp;Ravi Hari Phulware ,&nbsp;Gajendra Kumar Yadav ,&nbsp;Ashok Singh ,&nbsp;Prashant Durgapal ,&nbsp;Rahul Kumar ,&nbsp;Amit Gupta ,&nbsp;Sanjeev Kishoree ,&nbsp;Arvind Kumar","doi":"10.1016/j.patol.2026.100858","DOIUrl":"10.1016/j.patol.2026.100858","url":null,"abstract":"<div><h3>Background</h3><div>Schwannomas are benign, slow-growing tumours that arise from Schwann cells. Extracranial schwannomas are less common than those occurring at the intracranial vestibulocochlear and cerebellopontine angles. Because extracranial schwannomas are uncommon, it is difficult to make an accurate clinical diagnosis. Therefore, histopathological examination is the gold standard.</div></div><div><h3>Methods</h3><div>In this study, we aim to describe the incidence, presenting clinical features, anatomical location, size, and initial (presumption) diagnosis of thirty-eight cases that were histopathologically diagnosed as extracranial schwannomas, along with a literature review. A retrospective, cross-sectional observational study was conducted at the Department of Pathology and Laboratory Medicine, All India Institute of Medical Science, Rishikesh, India, from January 2018 to June 2024. Data and histopathological slides were retrieved and analysed.</div></div><div><h3>Results</h3><div>Thirty-eight patients were documented, with an age range of 11–75 years and a mean age of 37 years, and a male predominance (M:F, 2.8:1) was noted. Tumour size ranged from 0.3 to 13<!--> <!-->cm. Thirteen cases of schwannomas occurred in the head and neck (34.21%), eleven in the spine (29%), six in the upper extremities (15.79%), three each in the lower extremities (7.88%) and the upper trunk (7.88%) and two in the lower trunk/visceral region (5.24%). Most patients presented with painless swellings. The study indicates that schwannomas were most commonly found in the head and neck region, followed by the spine. Within the extremities, they were more frequent in the upper extremities, while in the trunk, they were found in the chest wall, ribs, posterior mediastinum (part of the chest cavity), adrenal gland, and pararenal area.</div></div><div><h3>Conclusions</h3><div>The study indicates that schwannomas are most commonly found in the head and neck region, followed by the spine. Within the extremities, they occur more frequently in the upper extremities, while in the trunk they were found in the chest wall, ribs, posterior mediastinum (part of the chest cavity), adrenal gland, and pararenal area. The radioresistant nature of schwannomas alerts both clinicians and pathologists to the importance of early diagnosis and to be familiar with their uncommon anatomical locations.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"59 2","pages":"Article 100858"},"PeriodicalIF":0.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146081711","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":"Post-mortem ultrasound-guided biopsies: A valuable tool for investigating novel diseases","authors":"Ánxela Vidal González ,&nbsp;Juan José Páez Vargas ,&nbsp;Ana María Vicente Montaña ,&nbsp;Mariona Cabero Piris ,&nbsp;José Ramón Fortes Alen ,&nbsp;Miguel de Górgolas Hernandéz-Mora ,&nbsp;Laura Prieto Pérez","doi":"10.1016/j.patol.2026.100863","DOIUrl":"10.1016/j.patol.2026.100863","url":null,"abstract":"<div><h3>Introduction</h3><div>While autopsies are the gold standard for investigating infectious diseases, their use is limited by infrastructure, staffing, or safety concerns during outbreaks. Post-mortem ultrasound-guided biopsies offer a practical, minimally invasive alternative for tissue sampling.</div></div><div><h3>Methods</h3><div>This case series included 60 deceased COVID-19 patients from Intensive Care Units (ICUs) and hospital wards (HWs). A total of 108 post-mortem specimens were obtained, including five necropsies, three of which were complemented by post-mortem biopsies. Percutaneous biopsies were performed at bedside within the first hour post-mortem, while necropsies were performed between 3<!--> <!-->h and 3 days after death. Samples were analysed using morphological, immunohistochemical (IHC), and ultrastructural techniques, including Transmission Electron Microscopy (TEM). Epidemiological and clinical data were collected prior to death.</div></div><div><h3>Results</h3><div>Necropsies provided lung, heart, kidney, liver, spleen, bone marrow, and testicular samples, with procedure durations ranging from 3 to 5<!--> <!-->h. Tru-cut biopsies were faster, less invasive, and more cost-effective, with an average cost of €180 compared to €1500–€3000 for autopsies. High-quality samples for IHC and TEM analysis were obtained, with a success rate of 83% for lung biopsies, 100% for liver, 79% for kidney, and 67% for spleen samples. The minimally invasive nature of biopsies improved acceptance by families, particularly in cases when full autopsies were not feasible.</div></div><div><h3>Conclusions</h3><div>Post-mortem biopsies represent a valuable alternative to autopsies, providing high-quality samples, improved accessibility, lower costs, and faster processing. Their minimally invasive nature and ability to obtain key organ samples enhance feasibility in both clinical and research settings, supporting broader application in the investigation of emerging diseases.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"59 2","pages":"Article 100863"},"PeriodicalIF":0.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146167335","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":"Current perspectives on neurodegenerative diseases: from clinical autopsy to precision medicine","authors":"Alberto Rábano","doi":"10.1016/j.patol.2026.100876","DOIUrl":"10.1016/j.patol.2026.100876","url":null,"abstract":"","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"59 2","pages":"Article 100876"},"PeriodicalIF":0.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147747127","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":"Lymphomatoid papulosis: A challenge in the differential diagnosis of ulcerative lesions of the oral mucosa","authors":"Henar Anadón Valero ,&nbsp;Lucas Andreu Roche ,&nbsp;Sara Navarro Júlvez ,&nbsp;Lucía Prieto-Torres ,&nbsp;Mar Garcia-Garcia","doi":"10.1016/j.patol.2026.100870","DOIUrl":"10.1016/j.patol.2026.100870","url":null,"abstract":"<div><div>Lymphomatoid papulosis (LyP) is a primary cutaneous CD30+ lymphoproliferative disorder, with a higher incidence in males. Despite its benign and self-resolving clinical course, it exhibits histological features that may mimic other conditions. Mucosal involvement in LyP represents an atypical presentation. We report the case of a 50-year-old man with oral and genital mucosal lesions, initially diagnosed as Behçet's disease. Following a systematic review, 35 additional cases of LyP with mucosal involvement were identified, more frequently in women and with a predilection for the tongue. In 55% of patients, mucosal involvement constituted the initial manifestation of the disease, leading to diagnostic delays and misdiagnosis in one-third of cases. The prognosis was similar to that of classic LyP, with no increased risk of secondary neoplasms. Regarding therapeutic management, methotrexate and topical corticosteroids emerged as the main treatment options.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"59 2","pages":"Article 100870"},"PeriodicalIF":0.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147655141","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":"Development and validation of a CNN model for grading oral epithelial dysplasia","authors":"Chetan Belaldavar ,&nbsp;Punnya V. Angadi ,&nbsp;Uma Mudenagudi ,&nbsp;Ujwala Patil ,&nbsp;Ramesh Ashok Tabib","doi":"10.1016/j.patol.2026.100869","DOIUrl":"10.1016/j.patol.2026.100869","url":null,"abstract":"<div><h3>Background</h3><div>Diagnosis of oral epithelial dysplasia (OED), particularly grading, is challenging as it shows inter- and intra-observer variability. New technologies to assist pathologists are needed to decrease variability and enhance reproducibility. AI has brought about a new wave of increased precision in oncological pathology. High accuracy and objectivity in OED grading may now be attainable in histopathology because of AI tools such as deep learning.</div></div><div><h3>Methods</h3><div>A deep learning model, Densenet121, was developed for automated and reliable grading of OED according to the 2017 WHO classification (mild, moderate, and severe). The dataset comprised 1500 images, and slides were digitised at 4×, 10× and 40× magnification. We developed and trained a classification model.</div></div><div><h3>Results</h3><div>Overall performance of the Densenet 121 model was good, with accuracy above 80% across all magnifications. However, the 10× magnification yielded a good accuracy of 92.7%, precision of 92.8% and recall of 92.5%. For classification into mild, moderate, and severe categories, accuracy reached 91%, with good precision and recall.</div></div><div><h3>Conclusion</h3><div>DenseNet121 achieves high accuracy making it computationally efficient. This model was able to distinguish between normal epithelium and different grades of OED. These findings support the potential role of AI-based tools in reducing variability in grading dysplasia.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"59 2","pages":"Article 100869"},"PeriodicalIF":0.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147594609","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":"Squamoid eccrine ductal carcinoma: A case report and review of the literature","authors":"Laura López-Solache ,&nbsp;María Blanco-Bellas ,&nbsp;Adrián Santiago López-Caamaño ,&nbsp;Alejandro Vilas-Sueiro","doi":"10.1016/j.patol.2026.100867","DOIUrl":"10.1016/j.patol.2026.100867","url":null,"abstract":"<div><div>Squamoid eccrine ductal carcinoma (SEDC) is an extremely rare malignant cutaneous tumour that predominantly affects elderly Caucasian individuals, most commonly involving the head and neck region. Its most characteristic feature is a biphasic pattern, combining superficial squamous differentiation with deeper ductal differentiation. We report the case of a 75-year-old woman who presented with a lesion at the lateral canthus of the left eye. Histological examination revealed a malignant adnexal neoplasm with both squamous and ductal differentiation, extending from the epidermis into the subcutaneous tissue, supporting the diagnosis of SEDC. A review of the literature is presented, focusing on the diagnosis, treatment, and prognosis of this tumour.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"59 2","pages":"Article 100867"},"PeriodicalIF":0.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595184","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":"Pure non-gestational ovarian choriocarcinoma in a postmenopausal woman coexisting with a clear cell adenofibroma and endometriosis foci: A case report and review of the literature","authors":"Ainhoa Ordoñez Arrillaga ,&nbsp;Miguel Ángel Resano Abarzuza ,&nbsp;Marta Rezola Bajineta ,&nbsp;Begoña Aguiar Losada ,&nbsp;Yessica P. Rodríguez-Velandia ,&nbsp;Manuel Moreno Valladares ,&nbsp;Iraide Bernal Simón ,&nbsp;Ibon Jaunarena Marín ,&nbsp;Irune Ruiz Díaz","doi":"10.1016/j.patol.2026.100856","DOIUrl":"10.1016/j.patol.2026.100856","url":null,"abstract":"<div><div>Ovarian germ cell tumours are uncommon, with choriocarcinoma being the rarest of them. Among choriocarcinomas, the non-gestational type occurs mainly in premenarchal women, although cases have been described in postmenopausal women.</div><div>The distinction between gestational or non-gestational aetiology of choriocarcinoma is essential given the prognostic and therapeutic implications involved. The distinction between pure and mixed form of choriocarcinoma also has prognostic relevance.</div><div>Clear cell adenofibroma is a rare benign lesion, considered a precursor of clear cell carcinoma, with described association to endometriosis.</div><div>We present the case of a 72-year-old woman diagnosed at our centre with pure non-gestational choriocarcinoma, clear cell adenofibroma and foci of endometriosis present in the same ovary.</div><div>We performed a review of the literature, focusing on how to differentiate a gestational from a non-gestational choriocarcinoma and the pure form from the mixed form, as well as the described coexistence between germ cell and epithelial tumours.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"59 1","pages":"Article 100856"},"PeriodicalIF":0.5,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146039308","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}