Revista Espanola de Patologia最新文献

{"title":"Mucopolysaccharidoses type VII (Sly syndrome): New uncertain pathogenic variants in GUSB gene","authors":"Emilio I. Abecia Martínez ,&nbsp;Jorge Puente Prieto ,&nbsp;Jorge Luis Delgado Fernández ,&nbsp;Javier Martínez Castillón ,&nbsp;Carlos Nagore González ,&nbsp;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}

{"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 ,&nbsp;Robert Begué ,&nbsp;Víctor Martínez ,&nbsp;Elena García Alonso ,&nbsp;Santiago Miguelsanz ,&nbsp;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}

{"title":"Unusual tumour of the anterior mediastinum: Intrathymic bronchogenic cyst mimicking a thymoma","authors":"Mireia Rusca Giménez ,&nbsp;Steffi Verónica Vidal Aguirre ,&nbsp;Juan Gómez Tabales ,&nbsp;Cristian Benavides de la Fuente","doi":"10.1016/j.patol.2025.100812","DOIUrl":"10.1016/j.patol.2025.100812","url":null,"abstract":"<div><div>Bronchogenic cysts are rare congenital cystic lesions. Their occurrence in the anterior mediastinum as intrathymic bronchogenic cyst is extremely uncommon. These cysts present as mediastinal masses, and are generally asymptomatic and often diagnosed incidentally. Despite being benign, their intrathymic location and variable radiological appearance can mimic more common conditions such as thymomas. Surgical resection is the treatment of choice to confirm the diagnosis. We report a case involving a partial thymectomy performed for a suspected thymoma in the anterior mediastinum, which was subsequently identified on pathological examination as a bronchogenic cyst.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 2","pages":"Article 100812"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143445286","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":"Papillary carcinoma in thyroglossal duct cyst: A case report","authors":"Irene Salvador Marí ,&nbsp;Elisa Ortega Pastor ,&nbsp;Pedro Palao Moreno ,&nbsp;Alejandra Canon Galusso ,&nbsp;Enrique Monerris Garcia ,&nbsp;Carmen Gómez Muñóz","doi":"10.1016/j.patol.2025.100809","DOIUrl":"10.1016/j.patol.2025.100809","url":null,"abstract":"<div><div>A thyroglossal duct cyst is a benign congenital lesion present in 7% of the population. Malignant transformation is rare, with an incidence of 1%, 90% of which are papillary carcinomas. We report the case of a 36-year-old woman with an asymptomatic 2.5<!--> <!-->cm neck nodule. Excision of the cyst, total thyroidectomy, and neck lymphadenectomy were performed, with a diagnosis of papillary carcinoma arising in a thyroglossal cyst, classic subtype, infiltrating the pericystic soft tissues and presenting micrometastases in two lymph nodes without extracapsular spread. We conducted a literature review, with only 24 cases reported. There are two theories explaining the aetiology of papillary carcinoma in thyroglossal cysts: the presence of residual thyroid tissue within the cyst and metastasis from a primary thyroid tumour. In our case, the carcinoma originated from residual thyroid tissue as no occult carcinoma was found in the thyroid gland.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 2","pages":"Article 100809"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143445283","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":"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 ,&nbsp;Raquel Monge-Carmona ,&nbsp;Rafael Perea-Pérez ,&nbsp;Mariola Méndez-Muros ,&nbsp;María Domínguez-Villalón ,&nbsp;Luis Quintana-Barriga ,&nbsp;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}

{"title":"The virtues of the Horacio Oliva Scholarship","authors":"Francisco Javier Torres Gómez ,&nbsp;Consolación Sánchez Noriega ,&nbsp;Francisco Navarro Lara","doi":"10.1016/j.patol.2025.100810","DOIUrl":"10.1016/j.patol.2025.100810","url":null,"abstract":"","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 2","pages":"Article 100810"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143445288","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":"Cardiac amyloidosis: A diagnosis made from an ophthalmological finding and suspicion","authors":"Germán Allendes-Urquiza ,&nbsp;Yolanda Castro Álvarez ,&nbsp;Rafael Montejano-Milner ,&nbsp;Miguel A. Teus ,&nbsp;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}

{"title":"Diagnostic challenges of retroperitoneal leiomyosarcoma: A case of confusion with adrenal tumour","authors":"Víctor Pedrero Castillo ,&nbsp;Víctor Cristóbal Redondo ,&nbsp;Antonio Tejera-Muñoz ,&nbsp;Francisca Mª Peiró Marqués ,&nbsp;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 65<!--> <!-->mm<!--> <!-->×<!--> <!-->65<!--> <!-->mm, 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}

{"title":"Cytomorphological diagnosis of sarcoidosis using EBUS-TBNA in a tuberculosis-endemic region","authors":"Sumanta Das ,&nbsp;Adil Aziz Khan ,&nbsp;Annmy Jose","doi":"10.1016/j.patol.2024.100798","DOIUrl":"10.1016/j.patol.2024.100798","url":null,"abstract":"<div><h3>Background</h3><div>Sarcoidosis, a granulomatous inflammatory disease, exhibits diverse clinical manifestations, often affecting multiple organs. Diagnostic challenges arise due to its similarities with tuberculosis, particularly in high-burden areas. Differentiating between the two relies on clinical judgment, laboratory tests, imaging, and invasive procedures. Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) has emerged as a valuable diagnostic tool, enhancing both accuracy and patient care.</div></div><div><h3>Material and methods</h3><div>This study enrolled 279 suspected sarcoidosis cases, evaluated via EBUS-TBNA between November 2022 and August 2023. The inclusion criteria comprised intrathoracic lymphadenopathy on CT, with subsequent diagnoses of either sarcoidosis or tuberculosis. Clinical, radiological, and laboratory assessments, along with EBUS-TBNA, were conducted. Cytopathological analysis focused on the presence of granulomas, histiocytic clusters, lymphocyte depletion, and necrosis, which aided in diagnosis. Statistical analysis was conducted using SPSS software to evaluate sensitivity, specificity, and predictive values.</div></div><div><h3>Results</h3><div>Out of 279 patients, 178 were diagnosed with sarcoidosis and 90 with tuberculosis. Adequate TBNA samples were obtained in 240 cases, predominantly from male patients. Negative tuberculin skin tests and negative culture studies were significant findings in the sarcoidosis cases (<em>p</em> <!-->&lt;<!--> <!-->0.0001). Echotexture and necrosis were distinguishing features of tuberculosis, while granulomas and histiocyte patterns varied. The sensitivity and specificity for diagnosing sarcoidosis via cytomorphology were notable, particularly when combined with negative microbiological findings.</div></div><div><h3>Conclusion</h3><div>Cytomorphological analysis via EBUS-TBNA significantly aids in the diagnosis of sarcoidosis, despite overlapping features with tuberculosis. The absence of necrosis and distinctive granuloma characteristics contribute to its high sensitivity and specificity. Radiological correlations and microbiological findings further enhance diagnostic accuracy. This study underscores the importance of comprehensive evaluation in intrathoracic lymphadenopathies, highlighting the pivotal role of EBUS-TBNA in tuberculosis-endemic regions.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100798"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048343","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":"Experience of Biology Degree students in the recognition of tissue alterations in human histopathological samples","authors":"Fernando Leiva-Cepas ,&nbsp;Cristina García-Caballero ,&nbsp;Julio Osuna-Soto ,&nbsp;Mercedes Vallejo-Mudarra ,&nbsp;María Isabel Burón ,&nbsp;José Antonio González-Reyes ,&nbsp;José Manuel Villalba ,&nbsp;Juan Antonio Moreno","doi":"10.1016/j.patol.2024.100794","DOIUrl":"10.1016/j.patol.2024.100794","url":null,"abstract":"<div><h3>Introduction</h3><div>The analysis of histological images plays a fundamental role in studying pathological alterations associated with human diseases, especially in the context of practical teaching. However, in the Biology Degree programme there is a lack of practical activities based on the study of human histological preparations.</div></div><div><h3>Material and methods</h3><div>A collaboration with an Anatomical Pathology department was established for this project, which aimed to carry out an innovative practice based on the study of human biopsies in the subject of Cell Biology and Cellular Pathology of the Biology Degree programme. Face-to-face and non-face-to-face activities were performed, involving group work, image search and selection for the preparation of digital material.</div></div><div><h3>Results</h3><div>This activity allowed for the identification of morphological changes caused by the deregulation of cellular processes in various diseases.</div></div><div><h3>Conclusions</h3><div>Our results indicate that students find this practice very useful for their training, so this activity could be applied to other similar subjects taught in other degree programmes.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100794"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143296488","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}