Revista Espanola de Patologia最新文献_第3页

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 : 2025-02-25 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":"2025-02-25","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

Parotid rhabdomyosarcoma with spindle cell features masquerading as a benign salivary gland tumour: Pitfall alert 具有梭形细胞特征的腮腺横纹肌肉瘤伪装成良性唾液腺肿瘤：陷阱警报

Revista Espanola de Patologia Pub Date : 2025-02-20 DOI: 10.1016/j.patol.2025.100808

Thotadamane Nagaraja Chandrashekhar , Apoorva Narayana Reddy , Priyadharshini Bargunam , Saba Afreen Raheem , Ragashree Apparasanahalli Siddalingamurthy

{"title":"Parotid rhabdomyosarcoma with spindle cell features masquerading as a benign salivary gland tumour: Pitfall alert","authors":"Thotadamane Nagaraja Chandrashekhar , Apoorva Narayana Reddy , Priyadharshini Bargunam , Saba Afreen Raheem , Ragashree Apparasanahalli Siddalingamurthy","doi":"10.1016/j.patol.2025.100808","DOIUrl":"10.1016/j.patol.2025.100808","url":null,"abstract":"<div><div>Rhabdomyosarcoma (RMS) is the most common sarcoma in children and adolescents, with the head and neck region, extremities, and genitourinary tract being the most common locations. Rhabdomyosarcoma of the salivary glands is rarely seen in children and can easily be mistaken for their benign counterparts. We report a case of rhabdomyosarcoma in the parotid region that clinically and cytologically masqueraded as a benign parotid gland tumour, leading to diagnostic difficulties. However, the excised specimen revealed histomorphological and immunophenotypic features consistent with rhabdomyosarcoma. The child underwent a total parotidectomy followed by chemotherapy and is doing well without recurrence. Although cytology is minimally invasive and has good specificity, there are rare cases, such as this one, where histopathology provided the definitive diagnosis. This report aims to raise awareness of RMS of the parotid gland among clinicians, cytopathologists, and radiologists, aiding in the early diagnosis and treatment of these cases.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 2","pages":"Article 100808"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143445285","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 : 2025-02-20 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":"2025-02-20","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

Peritoneal carcinomatosis after lumboperitoneal shunt in a patient with a cancer of unknown primary site: Case report and review of the literature 原发部位不明的腰腹膜分流术后的腹膜癌：病例报告及文献复习

Revista Espanola de Patologia Pub Date : 2025-02-20 DOI: 10.1016/j.patol.2025.100802

Miquel Piñol Ribas , Robert Begué , Víctor Martínez , Elena García Alonso , Santiago Miguelsanz , Sònia Gatius

{"title":"Peritoneal carcinomatosis after lumboperitoneal shunt in a patient with a cancer of unknown primary site: Case report and review of the literature","authors":"Miquel Piñol Ribas , Robert Begué , Víctor Martínez , Elena García Alonso , Santiago Miguelsanz , Sònia Gatius","doi":"10.1016/j.patol.2025.100802","DOIUrl":"10.1016/j.patol.2025.100802","url":null,"abstract":"<div><div>Cancer of unknown primary site (CUP) often presents with atypical clinical behaviours that make identifying the primary tumour challenging. In this paper, we discuss the case of a patient with brain metastases from a CUP, which was ultimately diagnosed as pleomorphic carcinoma of the lung following autopsy. Clinically, the development of peritoneal carcinomatosis had reduced suspicion of a primary lung neoplasm, despite imaging tests initially suggesting this. However, the patient had previously undergone lumboperitoneal (LP) shunt insertion. The sequence of clinical events and autopsy findings strongly indicated that the LP shunt facilitated the metastatic spread.</div><div>In addition to this case report, we provide a systematic review of the literature on the role of ventriculoperitoneal (VP) and LP shunts in the metastatic dissemination of tumours. Although the spread of primary brain tumours via VP or LP shunts is rare, albeit well-documented, this phenomenon has been reported only twice for secondary tumours.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 2","pages":"Article 100802"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143445282","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

Unusual tumour of the anterior mediastinum: Intrathymic bronchogenic cyst mimicking a thymoma 前纵隔异常肿瘤：胸腺内支气管源性囊肿，类似胸腺瘤

Revista Espanola de Patologia Pub Date : 2025-02-20 DOI: 10.1016/j.patol.2025.100812

Mireia Rusca Giménez , Steffi Verónica Vidal Aguirre , Juan Gómez Tabales , Cristian Benavides de la Fuente

引用次数: 0

Papillary carcinoma in thyroglossal duct cyst: A case report 甲状腺舌管囊肿伴乳头状癌1例

Revista Espanola de Patologia Pub Date : 2025-02-20 DOI: 10.1016/j.patol.2025.100809

Irene Salvador Marí , Elisa Ortega Pastor , Pedro Palao Moreno , Alejandra Canon Galusso , Enrique Monerris Garcia , Carmen Gómez Muñóz

引用次数: 0

GATA-3 biomarker as a confounding factor in a patient with intraocular metastasis from squamous cell carcinoma of the lung GATA-3生物标志物作为肺鳞状细胞癌眼内转移患者的混杂因素

Revista Espanola de Patologia Pub Date : 2025-02-20 DOI: 10.1016/j.patol.2025.100805

Antonio Manuel Garrido-Hermosilla , Raquel Monge-Carmona , Rafael Perea-Pérez , Mariola Méndez-Muros , María Domínguez-Villalón , Luis Quintana-Barriga , Miguel Ángel Idoate-Gastearena

{"title":"GATA-3 biomarker as a confounding factor in a patient with intraocular metastasis from squamous cell carcinoma of the lung","authors":"Antonio Manuel Garrido-Hermosilla , Raquel Monge-Carmona , Rafael Perea-Pérez , Mariola Méndez-Muros , María Domínguez-Villalón , Luis Quintana-Barriga , Miguel Ángel Idoate-Gastearena","doi":"10.1016/j.patol.2025.100805","DOIUrl":"10.1016/j.patol.2025.100805","url":null,"abstract":"<div><div>Metastatic tumours to the retina are rare and are mainly found in the uvea (choroid, iris, or ciliary body). Despite their rarity, they pose a diagnostic challenge due to their diverse origins and subtle manifestations. This study examines the clinical characteristics and diagnostic challenges of retinal metastases through a literature review and a case involving a 74-year-old male with a painful blind left eye. Initially, the condition was diagnosed as transitional cell carcinoma retinal metastasis based on GATA-3 biomarker expression. Despite multiple examinations, including by retinologists, the finding was incidental, identified by the pathologist without prior suspicion. Through the analysis of clinical and radiological findings, we emphasize the importance of recognizing ocular symptoms as potential indicators of systemic malignancies, particularly in atypical presentations. We highlight the utility of immunohistochemical markers and radiological imaging in diagnosis and treatment guidance. Our findings stress the need for interdisciplinary collaboration between ophthalmologists, oncologists, and pathologists in the management of retinal metastases and thorough anatomical pathology evaluation.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 2","pages":"Article 100805"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143445287","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

The virtues of the Horacio Oliva Scholarship 奥拉西奥·奥利瓦奖学金的优点

Revista Espanola de Patologia Pub Date : 2025-02-20 DOI: 10.1016/j.patol.2025.100810

Francisco Javier Torres Gómez , Consolación Sánchez Noriega , Francisco Navarro Lara

引用次数: 0

Cardiac amyloidosis: A diagnosis made from an ophthalmological finding and suspicion 心脏淀粉样变：根据眼科发现和怀疑作出的诊断

Revista Espanola de Patologia Pub Date : 2025-02-20 DOI: 10.1016/j.patol.2025.100811

Germán Allendes-Urquiza , Yolanda Castro Álvarez , Rafael Montejano-Milner , Miguel A. Teus , Carolina Arruabarrena

{"title":"Cardiac amyloidosis: A diagnosis made from an ophthalmological finding and suspicion","authors":"Germán Allendes-Urquiza , Yolanda Castro Álvarez , Rafael Montejano-Milner , Miguel A. Teus , Carolina Arruabarrena","doi":"10.1016/j.patol.2025.100811","DOIUrl":"10.1016/j.patol.2025.100811","url":null,"abstract":"<div><h3>Background</h3><div>Amyloidosis refers to a heterogeneous group of diseases characterized by extracellular deposits of amyloid. Transthyretin is one of the precursor proteins in hereditary forms, where amyloid mainly accumulates in peripheral nerves, the heart and the eye. One of the ocular manifestations is floaters and a progressive decrease in visual acuity, due to its accumulation in the vitreous humour.</div></div><div><h3>Clinical case</h3><div>A 70-year-old man consulted due to a bilateral decrease in visual acuity. Dense vitreous opacities were observed during the ocular fundus exam, so a therapeutic pars plana vitrectomy was performed. The samples were sent for pathology analysis with a suspicion of ocular amyloidosis. The histopathological examination revealed amorphous cellular material showing apple-green birefringence with Congo red staining. Immunohistochemical staining and genetic testing identified a variant associated with familial amyloidotic polyneuropathy. Subsequently, a comprehensive systemic evaluation was performed, including an echocardiogram and magnetic resonance imaging, which revealed mild septal hypertrophy and diastolic dysfunction.</div></div><div><h3>Conclusions</h3><div>We present a case of cardiac involvement caused by hereditary amyloidosis, diagnosed through vitreous biopsy. This case highlights the importance of ophthalmological clinical suspicion and its role in facilitating a systemic evaluation leading to the right diagnosis and the early initiation of the appropriate therapy.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 2","pages":"Article 100811"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143445284","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 challenges of retroperitoneal leiomyosarcoma: A case of confusion with adrenal tumour 腹膜后平滑肌肉瘤的诊断挑战：一例与肾上腺肿瘤混淆

Revista Espanola de Patologia Pub Date : 2025-02-20 DOI: 10.1016/j.patol.2025.100807

Víctor Pedrero Castillo , Víctor Cristóbal Redondo , Antonio Tejera-Muñoz , Francisca Mª Peiró Marqués , Francisco Ignacio Aranda López

{"title":"Diagnostic challenges of retroperitoneal leiomyosarcoma: A case of confusion with adrenal tumour","authors":"Víctor Pedrero Castillo , Víctor Cristóbal Redondo , Antonio Tejera-Muñoz , Francisca Mª Peiró Marqués , Francisco Ignacio Aranda López","doi":"10.1016/j.patol.2025.100807","DOIUrl":"10.1016/j.patol.2025.100807","url":null,"abstract":"<div><div>Leiomyosarcoma (LMS) represents an aggressive neoplasm that often involves a diagnostic challenge when encountered in atypical anatomical sites. The case here exposed involves a 70-year-old female with a retroperitoneal mass measuring 65mm×65mm, likely of adrenal origin, warranting consideration for adrenalectomy. Histopathological examination reveals spindle cells arranged in intersecting fascicles, displaying pleomorphism and necrosis, and is immunohistochemically positive for actin and desmin markers. The definitive diagnosis is LMS, demonstrating venous origin without infiltration of the adrenal gland. Regrettably, the patient succumbed to post-operative complications. The inconspicuous nature of LMS in this anatomical niche complicates preclinical detection, underscoring the pivotal role of histopathological analysis in its identification. Furthermore, achieving complete excision proves challenging, resulting in a poorer prognosis compared to conventional LMS, despite the availability of alternative treatment modalities. Given the absence of standardized management protocols, a multidisciplinary approach remains essential.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 2","pages":"Article 100807"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143445280","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