Mireia Rusca Giménez , Steffi Verónica Vidal Aguirre , Juan Gómez Tabales , Cristian Benavides de la Fuente
{"title":"Unusual tumour of the anterior mediastinum: Intrathymic bronchogenic cyst mimicking a thymoma","authors":"Mireia Rusca Giménez , Steffi Verónica Vidal Aguirre , Juan Gómez Tabales , 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}
Irene Salvador Marí , Elisa Ortega Pastor , Pedro Palao Moreno , Alejandra Canon Galusso , Enrique Monerris Garcia , Carmen Gómez Muñóz
{"title":"Papillary carcinoma in thyroglossal duct cyst: A case report","authors":"Irene Salvador Marí , Elisa Ortega Pastor , Pedro Palao Moreno , Alejandra Canon Galusso , Enrique Monerris Garcia , 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}
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}
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}
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 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 , Adil Aziz Khan , 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> <!--><<!--> <!-->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":"Histopathological changes of nervous tissue in women over 60 years of age with Alzheimer's disease and their relationship with menopause","authors":"Angel David Tarrá Marrugo","doi":"10.1016/j.patol.2024.100800","DOIUrl":"10.1016/j.patol.2024.100800","url":null,"abstract":"<div><h3>Introduction</h3><div>Ageing is a natural and irreversible process that primarily manifests in older age, becoming more common after the age of 60. Currently, a significant increase has been observed in the elderly population, with forecasts indicating that this group will triple in size over the next 50 years. This phenomenon is evident in several countries, including Japan, Mexico, Brazil, and Colombia, where the growing population of older adults is accompanied by an increased risk of neurodegenerative diseases, such as Alzheimer's disease. Studies have shown differences in the onset and progression of the disease between men and women, highlighting menopause and hormonal factors as key determinants in women. An association has been identified between a lower exposure to endogenous oestrogens and a higher risk of dementia in women, linked to the action of the enzyme β-secretase (BACE1), which is involved in the formation of amyloid aggregates associated with Alzheimer's disease. These findings highlight the importance of thoroughly investigating and understanding the impact of ageing and related diseases on the current and future population.</div></div><div><h3>Objective</h3><div>This study aims to describe the histopathological changes in nervous tissue in women over 60 years of age with Alzheimer's disease and their relationship to menopause.</div></div><div><h3>Methodology</h3><div>A comprehensive search was conducted in databases such as PubMed, ScienceDirect, Frontiers, Scopus, and Springer.</div></div><div><h3>Results</h3><div>Two hundred thirteen articles were selected for review and 45 full articles were chosen.</div></div><div><h3>Conclusions</h3><div>Alzheimer's disease is characterised by a progressive loss of cognitive function due to brain lesions, including the accumulation of amyloid-beta plaques and neuronal apoptosis. Hormonal changes during menopause may contribute to the onset of the disease.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100800"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075817","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}
Fernando Leiva-Cepas , Cristina García-Caballero , Julio Osuna-Soto , Mercedes Vallejo-Mudarra , María Isabel Burón , José Antonio González-Reyes , José Manuel Villalba , Juan Antonio Moreno
{"title":"Experience of Biology Degree students in the recognition of tissue alterations in human histopathological samples","authors":"Fernando Leiva-Cepas , Cristina García-Caballero , Julio Osuna-Soto , Mercedes Vallejo-Mudarra , María Isabel Burón , José Antonio González-Reyes , José Manuel Villalba , 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}
Daniel Felipe Mendivelso-González , Catalina Castañeda-Motta , Alfredo Ernesto Romero-Rojas , Carlos Andrés Carvajal-Fierro , Rafael Parra-Medina
{"title":"ALK-rearranged primary mixed mucinous and non-mucinous lung adenocarcinoma: A case report","authors":"Daniel Felipe Mendivelso-González , Catalina Castañeda-Motta , Alfredo Ernesto Romero-Rojas , Carlos Andrés Carvajal-Fierro , Rafael Parra-Medina","doi":"10.1016/j.patol.2024.100796","DOIUrl":"10.1016/j.patol.2024.100796","url":null,"abstract":"<div><div>Lung cancer exhibits a diverse array of morphological manifestations and molecular changes, significantly influencing patient diagnosis, prognosis, and treatment strategies. We present the case of a 47-year-old man with a history of smoking, who presented to the emergency room with a 12-month history of haemoptysis. A chest computed tomography (CT) scan revealed a mass in the right upper lobe of the lung and bilateral lung nodules. He underwent a diagnostic wedge resection, which confirmed mixed mucinous and non-mucinous lung adenocarcinoma exhibiting acinar, papillary and micropapillary growth patterns. Molecular studies identified rearrangements in the <em>ALK</em> gene, and staging images revealed central nervous system and bone metastases. This case presents an unusual morphology of mixed mucinous and non-mucinous lung adenocarcinoma and highlights the importance of using immunohistochemical and molecular markers to determine tumour biology.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 1","pages":"Article 100796"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013593","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}