Revista Espanola de Patologia最新文献

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Importance of the pathologist in sample management at the sampling site in an interventional pulmonology unit: ROSE, EBUS-TBNA and EBUS-TBLNC 介入肺科科室病理学家在采样点样本管理中的重要性:ROSE、EBUS-TBNA和EBUS-TBLNC
Revista Espanola de Patologia Pub Date : 2025-07-07 DOI: 10.1016/j.patol.2025.100833
Beatriz Agredano-Ávila , Francisco Javier Velasco-Albendea , María Jesús Gil-Belmonte , Juan José Cruz-Rueda , Andrés López-Pardo
{"title":"Importance of the pathologist in sample management at the sampling site in an interventional pulmonology unit: ROSE, EBUS-TBNA and EBUS-TBLNC","authors":"Beatriz Agredano-Ávila , Francisco Javier Velasco-Albendea , María Jesús Gil-Belmonte , Juan José Cruz-Rueda , Andrés López-Pardo","doi":"10.1016/j.patol.2025.100833","DOIUrl":"10.1016/j.patol.2025.100833","url":null,"abstract":"","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 4","pages":"Article 100833"},"PeriodicalIF":0.0,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144570024","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
Metastatic cellular neurothekeoma arising over a vaccination scar: A case report and literature review 转移性细胞神经瘤发生在疫苗接种疤痕:一个病例报告和文献复习
Revista Espanola de Patologia Pub Date : 2025-07-07 DOI: 10.1016/j.patol.2025.100832
Jairo Fuentes-Carrascal , Beatriz Orozco-Sebá , Esperanza Meléndez-Ramírez , Claudia Montoya-Maya , José Tovar-Berardinelli , Juan Marchán-Cárdenas , Jesús Pérez-García
{"title":"Metastatic cellular neurothekeoma arising over a vaccination scar: A case report and literature review","authors":"Jairo Fuentes-Carrascal ,&nbsp;Beatriz Orozco-Sebá ,&nbsp;Esperanza Meléndez-Ramírez ,&nbsp;Claudia Montoya-Maya ,&nbsp;José Tovar-Berardinelli ,&nbsp;Juan Marchán-Cárdenas ,&nbsp;Jesús Pérez-García","doi":"10.1016/j.patol.2025.100832","DOIUrl":"10.1016/j.patol.2025.100832","url":null,"abstract":"<div><div>Cellular neurothekeoma is a rare non-melanocytic skin neoplasm, considered benign and more common in children and young adults, primarily affecting the healthy skin of the head, neck, and scapular region. Based on the morphological findings of the initially reported cases, it was thought to originate from neural sheath cells. Clinical, morphological, and immunohistochemical correlation studies have demonstrated its dermal origin and the absence of neural markers, suggesting a fibrohistiocytic origin, though its histogenesis remains uncertain. They present as slow-growing, self-limiting dermal nodules with exceptional recurrence and very low metastatic potential.</div><div>We present the case of a child with a reddish, firm, asymptomatic nodule on a vaccination scar on the right shoulder, which was excised, after which an ipsilateral axillary mass developed. The histopathological examination of both lesions revealed a neoplasm with morphological and immunohistochemical characteristics consistent with metastatic cutaneous cellular neurothekeoma in a regional lymph node.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 4","pages":"Article 100832"},"PeriodicalIF":0.0,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144570026","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
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 : 2025-07-07 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
{"title":"Identification of germline mutations in DICER1 through routine somatic NGS analysis in various neoplasms","authors":"Leticia Gracia Sáenz ,&nbsp;Svetlana Shalygina ,&nbsp;Reyes Roca ,&nbsp;Samanta Ortuño ,&nbsp;Jose Luis Soto ,&nbsp;Maria Tasso ,&nbsp;Ana Beatriz Sánchez ,&nbsp;Artemio Payá ,&nbsp;Cristina Alenda","doi":"10.1016/j.patol.2025.100834","DOIUrl":"10.1016/j.patol.2025.100834","url":null,"abstract":"<div><div>DICER1 syndrome is a genetic disorder that predisposes individuals to developing a wide variety of neoplasms with different histopathological characteristics across a broad age range. This study presents three clinical cases: a newborn with a chondromesenchymal hamartoma, an adolescent with embryonal rhabdomyosarcoma of the cervix, and a woman with pineoblastoma. In all the tumours, a routine next-generation sequencing (NGS) study detected a mutation in the DICER1 gene, suggestive of germline involvement, which was later confirmed in peripheral blood using Sanger sequencing.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 4","pages":"Article 100834"},"PeriodicalIF":0.0,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144570025","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 DOI: 10.1016/j.patol.2025.100835
Lola Lozano
{"title":"Walking Together Towards Commitment and Excellence in Anatomical Pathology: A Shared Future","authors":"Lola Lozano","doi":"10.1016/j.patol.2025.100835","DOIUrl":"10.1016/j.patol.2025.100835","url":null,"abstract":"","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 3","pages":"Article 100835"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144623709","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
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 : 2025-06-12 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,&nbsp;Smriti Sharan,&nbsp;Charanjeet Ahluwalia,&nbsp;Sana Ahuja,&nbsp;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":"2025-06-12","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
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
{"title":"Next generation sequencing unravels a gliosarcoma mimicking cerebral osteosarcoma","authors":"Clara Marti-Macia ,&nbsp;Lara Navarro ,&nbsp;Teresa San-Miguel ,&nbsp;Javier Megias ,&nbsp;Javier Carbonell-Zamorano ,&nbsp;Moisés Sanchez-Pardo ,&nbsp;Esther Roselló-Sastre","doi":"10.1016/j.patol.2025.100825","DOIUrl":"10.1016/j.patol.2025.100825","url":null,"abstract":"<div><div>This study presents a case of a woman with recurrent headaches and nausea. Following initial surgery, the pathological diagnosis suggested primary cerebral osteosarcoma. However, despite osteosarcoma-directed chemotherapy, the patient experienced recurrence. A comprehensive diagnostic revision, including next generation sequencing, revealed mutations typical of glioblastoma. These findings highlight the challenges in the differential diagnosis of gliosarcoma, especially when the typical alternating biphasic pattern is not clearly present. The recurrent tumour displayed extensive chondroblastic osteosarcoma-like areas surrounded by glial tissue with vascular proliferation and atypical glial cells leading to a diagnosis of gliosarcoma. Our findings highlight the benefits of using NGS to assist pathologists in accurately diagnosing brain tumours, particularly in challenging cases. This approach is consistent with the progressive updates introduced by the WHO.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 4","pages":"Article 100825"},"PeriodicalIF":0.0,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143931408","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
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
{"title":"Papillary thyroid carcinoma with fibromatosis/fasciitis-like/desmoid-type stroma: When to suspect and how to diagnose","authors":"Judith González-López,&nbsp;Luis Rubio-Martínez,&nbsp;Carlos Zac-Romero,&nbsp;Mireya Prieto-Rodríguez,&nbsp;Nuria Mancheño-Franch","doi":"10.1016/j.patol.2025.100819","DOIUrl":"10.1016/j.patol.2025.100819","url":null,"abstract":"<div><div>Currently, it is known that more than 60% of adults have one or more thyroid nodules, of which less than 5% are malignant. Among them, papillary thyroid carcinoma (PTC) is the most common thyroid malignancy, accounting for 90% of all thyroid carcinomas. The World Health Organization (WHO) 5th edition endocrine tumours classification includes several PTC subtypes. Of these, PTC with fibromatosis/fasciitis-like/desmoid-type stroma stands out not only for being one of the least frequent subtypes but also for its characteristic histology (biphasic structure) and genetic pattern, which presents mutations in both <em>BRAF</em> and <em>CTNNB1</em>. Despite these distinctive features, it remains a challenging neoplasm to suspect and easy to misdiagnose, primarily due to its radiological imaging and cytological findings. In this study, we report a classic case, review the literature, discuss when suspicion should arise, and provide a practical diagnostic guide.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 3","pages":"Article 100819"},"PeriodicalIF":0.0,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143847919","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 : 2025-04-18 DOI: 10.1016/j.patol.2025.100827
Anna Sifre-Ruiz , Cristina Esquina-Rodriguez , Africa Manero-Azua , Iñigo Gorostiaga , Guiomar Perez de Nanclares
{"title":"Multidisciplinary approach to reach a foetal diagnosis of Walker-Warburg syndrome: From autopsy to genetics and back","authors":"Anna Sifre-Ruiz ,&nbsp;Cristina Esquina-Rodriguez ,&nbsp;Africa Manero-Azua ,&nbsp;Iñigo Gorostiaga ,&nbsp;Guiomar Perez de Nanclares","doi":"10.1016/j.patol.2025.100827","DOIUrl":"10.1016/j.patol.2025.100827","url":null,"abstract":"<div><div>The diagnosis of central nervous system anomalies is a challenge for pathologists, especially in the context of stillbirth. A multidisciplinary approach including gestational data, ultrasound, and genetic tests not only increases diagnostic efficacy, but also enhances the quality of care provided to families. We report the case of a legal termination of pregnancy due to encephalic malformation in a couple with a previous history of multiple miscarriages. The initial foetal autopsy guided the genetic tests, leading to the identification of a pathogenic variant responsible for Walker-Warburg syndrome – an infrequent and relatively unknown syndromic complex. By using a reverse phenotyping strategy, it was possible not only to confirm the diagnosis suggested by the genetic tests in the foetus, but also to identify the same genetic alteration in a previous miscarriage. This provided an unidentified diagnosis and enabled the provision of genetic counselling to the couple.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 3","pages":"Article 100827"},"PeriodicalIF":0.0,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143843813","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 : 2025-04-18 DOI: 10.1016/j.patol.2025.100822
Bhaskar Narayan, Kuldeep Singh, Jeyaseelan Augustine, Aadithya B. Urs
{"title":"Pathological insights into small cell osteosarcoma: A rare case report highlighting diagnostic approaches with a literature review","authors":"Bhaskar Narayan,&nbsp;Kuldeep Singh,&nbsp;Jeyaseelan Augustine,&nbsp;Aadithya B. Urs","doi":"10.1016/j.patol.2025.100822","DOIUrl":"10.1016/j.patol.2025.100822","url":null,"abstract":"<div><div>Small cell osteosarcoma (SCOS) is an uncommon variant of osteosarcoma, typically affecting young adults. This case report presents an unusual case of a 35-year-old individual who presented with a growth in the mandible. Microscopically, the lesion was characterised by sheets and plexuses of atypical small round cells with minimal osteoid formation. PAS positivity in the tumour osteoid and SATB2 immunopositive tumour cells led to diagnosis of SCOS.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 3","pages":"Article 100822"},"PeriodicalIF":0.0,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143843811","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
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,&nbsp;Neeti Nagar,&nbsp;Charanjeet Ahluwalia,&nbsp;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
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