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Papillary carcinoma in thyroglossal duct cyst: A case report 甲状腺舌管囊肿伴乳头状癌1例
Q4 Medicine 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
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.
甲状舌管囊肿是一种先天性良性病变,发病率为7%。恶性转化是罕见的,发生率为1%,其中90%为乳头状癌。我们报告的情况下,36岁的妇女与一个无症状的2.5厘米颈部结节。行囊肿切除、甲状腺全切除术、颈部淋巴结切除术,诊断为甲状腺舌囊肿乳头状癌,典型亚型,浸润囊周软组织,2个淋巴结微转移,无囊外扩散。我们进行了文献回顾,仅报告了24例。有两种理论解释甲状腺舌囊肿乳头状癌的病因:囊肿内残留的甲状腺组织和原发性甲状腺肿瘤的转移。在我们的病例中,癌起源于残留的甲状腺组织,因为甲状腺中没有发现隐匿性癌。
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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
Q4 Medicine 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
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.
转移到视网膜的肿瘤很少见,主要发生在葡萄膜(脉络膜、虹膜或睫状体)。尽管罕见,但由于其来源多样且表现微妙,给诊断带来了挑战。本研究通过文献综述和一例患有左眼疼痛性失明的 74 岁男性病例,探讨了视网膜转移瘤的临床特征和诊断难题。最初,根据 GATA-3 生物标志物的表达,该病症被诊断为过渡细胞癌视网膜转移。尽管进行了多次检查,包括视网膜专家的检查,但这一发现是偶然的,是病理学家在没有事先怀疑的情况下发现的。通过对临床和放射学发现的分析,我们强调了将眼部症状作为全身恶性肿瘤潜在指标的重要性,尤其是在非典型表现时。我们强调了免疫组化标记和放射成像在诊断和治疗指导中的作用。我们的研究结果强调了眼科医生、肿瘤学家和病理学家在视网膜转移的管理和彻底的解剖病理学评估方面进行跨学科合作的必要性。
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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
Q4 Medicine Pub Date : 2025-02-20 DOI: 10.1016/j.patol.2025.100810
Francisco Javier Torres Gómez , Consolación Sánchez Noriega , Francisco Navarro Lara
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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
Q4 Medicine 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

Background

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.

Clinical case

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.

Conclusions

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.
背景淀粉样变性是指以淀粉样蛋白细胞外沉积为特征的一组不同类型的疾病。淀粉样蛋白主要积聚在周围神经、心脏和眼睛中。由于淀粉样蛋白在玻璃体腔内积聚,眼部表现之一是浮游物和视力逐渐下降。在眼底检查中发现了致密的玻璃体混浊,因此进行了治疗性玻璃体旁切除术。样本被送去进行病理分析,怀疑是眼淀粉样变性。组织病理学检查发现,无定形的细胞物质在刚果红染色下呈现苹果绿双折射。免疫组化染色和基因检测发现了一种与家族性淀粉样变性多发性神经病相关的变异体。随后,对患者进行了全面的系统评估,包括超声心动图和磁共振成像,结果显示患者存在轻度室间隔肥厚和舒张功能障碍。本病例强调了眼科临床怀疑的重要性及其在促进系统评估以获得正确诊断和尽早开始适当治疗方面的作用。
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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
Q4 Medicine 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
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.
平滑肌肉瘤(LMS)是一种侵袭性肿瘤,当遇到非典型解剖部位时,通常涉及诊断挑战。本病例涉及一名70岁女性,腹膜后肿块大小为65mm × 65mm,可能起源于肾上腺,需要考虑肾上腺切除术。组织病理学检查显示梭形细胞排列在交叉束中,表现多形性和坏死,肌动蛋白和desmin标记物免疫组织化学阳性。最终诊断为LMS,显示静脉起源,没有肾上腺浸润。遗憾的是,患者死于术后并发症。LMS在这一解剖生态位的不明显性质使临床前检测复杂化,强调了组织病理学分析在其鉴定中的关键作用。此外,实现完全切除证明具有挑战性,尽管有其他治疗方式,但与传统LMS相比,预后较差。由于缺乏标准化的管理协议,多学科方法仍然是必不可少的。
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引用次数: 0
Cytomorphological diagnosis of sarcoidosis using EBUS-TBNA in a tuberculosis-endemic region 应用EBUS-TBNA对结核流行地区结节病的细胞形态学诊断。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.1016/j.patol.2024.100798
Sumanta Das , Adil Aziz Khan , Annmy Jose

Background

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.

Material and methods

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.

Results

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 (p < 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.

Conclusion

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.
背景:结节病是一种肉芽肿性炎症性疾病,临床表现多样,常累及多个器官。由于其与结核病相似,特别是在高负担地区,因此出现了诊断方面的挑战。区分两者依赖于临床判断、实验室检查、影像学和侵入性手术。超声引导下支气管穿刺(EBUS-TBNA)已成为一种有价值的诊断工具,提高了准确性和患者护理。材料和方法:本研究招募了279例疑似结节病病例,于2022年11月至2023年8月期间通过EBUS-TBNA进行评估。纳入标准包括CT上的胸内淋巴结病,随后诊断为结节病或结核病。进行了临床、放射学和实验室评估以及EBUS-TBNA。细胞病理学分析集中在肉芽肿,组织细胞簇,淋巴细胞耗损和坏死的存在,这有助于诊断。采用SPSS软件进行统计学分析,评价敏感性、特异性和预测值。结果:279例患者中结节病178例,结核90例。在240例患者中获得了足够的TBNA样本,主要来自男性患者。结核菌素皮肤试验阴性和培养阴性是结节病病例的重要发现。结论:尽管结节病与结核病有重叠的特征,但通过EBUS-TBNA进行细胞形态学分析有助于结节病的诊断。无坏死,肉芽肿特征明显,具有较高的敏感性和特异性。放射学相关性和微生物学结果进一步提高了诊断的准确性。这项研究强调了对胸内淋巴结病进行综合评估的重要性,强调了EBUS-TBNA在结核病流行地区的关键作用。
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引用次数: 0
Experience of Biology Degree students in the recognition of tissue alterations in human histopathological samples 生物学学位学生在识别人体组织病理样本中的组织改变方面的经验
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.1016/j.patol.2024.100794
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

Introduction

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.

Material and methods

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.

Results

This activity allowed for the identification of morphological changes caused by the deregulation of cellular processes in various diseases.

Conclusions

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.
组织学图像的分析在研究与人类疾病相关的病理改变中起着重要作用,特别是在实践教学中。然而,在生物学学位课程中,缺乏基于人类组织学准备研究的实践活动。材料和方法本项目与解剖病理学部门合作,旨在开展基于生物学位课程细胞生物学和细胞病理学主题的人体活组织检查研究的创新实践。进行了面对面和非面对面的活动,包括小组工作,图像搜索和选择准备数字材料。结果该活性允许鉴定由各种疾病中细胞过程失调引起的形态学变化。结论研究结果表明,学生发现这种做法对他们的训练非常有用,因此这种活动可以应用于其他学位课程的其他类似学科。
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引用次数: 0
Histopathological changes of nervous tissue in women over 60 years of age with Alzheimer's disease and their relationship with menopause 60岁以上老年痴呆症患者神经组织的病理变化及其与绝经期的关系
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.1016/j.patol.2024.100800
Angel David Tarrá Marrugo

Introduction

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.

Objective

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.

Methodology

A comprehensive search was conducted in databases such as PubMed, ScienceDirect, Frontiers, Scopus, and Springer.

Results

Two hundred thirteen articles were selected for review and 45 full articles were chosen.

Conclusions

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.
衰老是一种自然的、不可逆转的过程,主要表现在老年阶段,在60岁以后更为普遍。目前,老年人口显著增加,预测表明,这一群体的规模将在未来50年增加两倍。这一现象在包括日本、墨西哥、巴西和哥伦比亚在内的几个国家很明显,在这些国家,老年人人口的增长伴随着阿尔茨海默病等神经退行性疾病的风险增加。研究表明,男性和女性在该病的发病和进展方面存在差异,并强调更年期和荷尔蒙因素是女性的关键决定因素。内源性雌激素暴露较低与女性痴呆风险较高之间存在关联,这与β分泌酶(BACE1)的作用有关,该酶参与与阿尔茨海默病相关的淀粉样蛋白聚集体的形成。这些发现强调了彻底调查和了解老龄化和相关疾病对当前和未来人口的影响的重要性。目的:探讨60岁以上老年痴呆症患者神经组织的病理变化及其与绝经期的关系。方法:在PubMed、ScienceDirect、Frontiers、Scopus和施普林格等数据库中进行了全面的搜索。结果:入选文献213篇,入选全文45篇。结论:阿尔茨海默病的特征是脑损伤导致认知功能的进行性丧失,包括淀粉样斑块的积累和神经元凋亡。绝经期荷尔蒙的变化可能导致疾病的发生。
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引用次数: 0
ALK-rearranged primary mixed mucinous and non-mucinous lung adenocarcinoma: A case report alk重排原发混合性黏液性和非黏液性肺腺癌1例。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.1016/j.patol.2024.100796
Daniel Felipe Mendivelso-González , Catalina Castañeda-Motta , Alfredo Ernesto Romero-Rojas , Carlos Andrés Carvajal-Fierro , Rafael Parra-Medina
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 ALK 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.
肺癌表现出多种形态表现和分子变化,显著影响患者的诊断、预后和治疗策略。我们提出的情况下,一个47岁的男子吸烟史,谁提出了12个月的咯血史急诊室。胸部计算机断层扫描(CT)显示右肺上叶肿块和双侧肺结节。他接受了诊断性的楔形切除,证实了混合性黏液性和非黏液性肺腺癌,表现为腺泡、乳头状和微乳头状生长模式。分子研究发现ALK基因重排,分期图像显示中枢神经系统和骨转移。本病例表现出一种不寻常的混合黏液性和非黏液性肺腺癌的形态,强调了使用免疫组织化学和分子标记来确定肿瘤生物学的重要性。
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引用次数: 0
A SHOUT-OUT FOR ANATOMICAL PATHOLOGY!! We are key to diagnosis and clinical excellence!! 解剖学病理学万岁!!我们是诊断和临床卓越的关键!!
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.1016/j.patol.2025.100818
Santiago Ramón y Cajal Agüeras
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引用次数: 0
期刊
Revista Espanola de Patologia
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