Revista Espanola de Patologia最新文献

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Many thanks to everyone!! Let's keep pushing forward!! 非常感谢大家！让我们继续前进！！

Q4 Medicine

Revista Espanola de Patologia

Pub Date : 2025-04-01 DOI: 10.1016/j.patol.2025.100829

Santiago Ramón, Cajal Agüeras, Empar Mayordomo, Francesc Tresserra

引用次数: 0

Cytomorphological patterns in bronchoalveolar lavage in the diagnostic evaluation of pulmonary diseases 支气管肺泡灌洗细胞形态学对肺部疾病的诊断价值

Q4 Medicine

Revista Espanola de Patologia

Pub Date : 2025-03-17 DOI: 10.1016/j.patol.2025.100803

Smriti Sharan, Niti Sureka, Charanjeet Ahluwalia, Sana Ahuja, Sunil Ranga

Background

Bronchoalveolar lavage (BAL) cytology is a well-established diagnostic tool for respiratory tract lesions. The analysis of cellular patterns in BAL cytology provides useful information about infectious, inflammatory, and neoplastic lung diseases. This study aimed to analyze bronchoalveolar lavage fluid to investigate various cellular patterns in BAL cytology in different pulmonary diseases.

Material and methods

This retrospective study was conducted in the Department of Pathology and included BAL cytology samples from 182 patients between January 2022 and July 2023.

Results

Of the 182 cases, 116 (63.7%) were male and 66 (36.3%) were female. Thirty-seven (20%) cases showed a predominantly neutrophilic cellular pattern, while 61 (33.5%) showed a lymphocytic pattern. Two (1%) cases showed a mixed cellular pattern, including eosinophils. In 32 (17.5%) cases, patterns indicating specific aetiology were identified, the most common being AFB-positive granulomatous inflammation (4.3%), followed by fungal hyphae (1.6%). Malignant cells were seen in 15 (8.2%) cases, with the most common pattern being cells arranged in an acinar pattern, indicative of adenocarcinoma. A rare case of pulmonary alveolar proteinosis was diagnosed based on the presence of PAS-positive extracellular granular to globular material in cytology.

Conclusion

In the era of minimally invasive procedures, BAL cytology analysis stands out as a valuable tool for diagnosing various lung diseases. It aids in the diagnostic workup for many diseases, including those of tubercular, fungal, and neoplastic aetiology. Combining clinical details, radiological information, and BAL cytology can help provide a definitive diagnosis and avoid invasive procedures.

支气管肺泡灌洗（BAL）细胞学是一种公认的呼吸道病变诊断工具。BAL细胞学中细胞模式的分析提供了关于感染性、炎症性和肿瘤性肺部疾病的有用信息。本研究旨在分析支气管肺泡灌洗液，探讨不同肺部疾病的BAL细胞学变化。材料和方法本回顾性研究在病理学系进行，包括2022年1月至2023年7月期间182名患者的BAL细胞学样本。结果182例患者中，男性116例（63.7%），女性66例（36.3%）。37例（20%）以中性粒细胞为主，61例（33.5%）以淋巴细胞为主。2例（1%）显示混合细胞模式，包括嗜酸性粒细胞。在32例（17.5%）病例中，确定了特定病因的模式，最常见的是afb阳性肉芽肿性炎症（4.3%），其次是真菌菌丝（1.6%）。15例（8.2%）可见恶性细胞，最常见的是细胞呈腺泡状排列，提示腺癌。一个罕见的肺泡蛋白沉积症的诊断是基于在细胞学上pas阳性的细胞外颗粒到球状物质的存在。结论在微创手术时代，BAL细胞学分析是诊断各种肺部疾病的重要工具。它有助于诊断工作的许多疾病，包括那些结核，真菌，和肿瘤病因。结合临床细节，放射学信息和BAL细胞学可以帮助提供明确的诊断并避免侵入性手术。

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引用次数: 0

Comparative analysis of Ki-67, α-SMA, and MMP-9 expression in oral submucous fibrosis and oral leukoplakia with/without dysplasia: Insights into malignant transformation mechanisms Ki-67、α-SMA和MMP-9在口腔黏膜下纤维化和伴/不伴不典型增生的口腔白斑中表达的比较分析：对恶性转化机制的见解

Q4 Medicine

Revista Espanola de Patologia

Pub Date : 2025-03-17 DOI: 10.1016/j.patol.2025.100804

Sneha Masne Deshpande , Sheetal Choudhary , Sangeeta Patankar , Palak Khetan , Girish Sadaphule , Sanpreet Singh Sachdev

Background

The present study aimed to comparatively analyze the immunoexpression of Ki-67, Alpha Smooth Muscle Actin (α-SMA), and Matrix Metalloproteinase-9 (MMP-9) between Oral Leukoplakia (OL) and Oral Submucous Fibrosis (OSMF), both with and without dysplasia. The objective was to determine the potential role of these biomarkers in the diagnosis and prognostication of oral potentially malignant disorders (OPMDs) and their potential as targets for interventions.

Materials and methods

Immunohistochemical staining for Ki-67, α-SMA, and MMP-9 was performed on seventy formalin-fixed paraffin-embedded tissue blocks, comprising normal buccal mucosa (n = 10), OSMF (n = 30), and OL (n = 30) with 15 cases each of dysplasia and non-dysplasia. The expression of these markers was comparatively evaluated in OSMF and OL, with and without dysplasia.

Results

The immunoexpression of Ki-67, MMP-9, and α-SMA was found to be significantly higher (p < 0.001) in OSMF compared to OL for the respective dysplastic counterparts. Additionally, OSMF with dysplasia exhibited a significantly higher expression (p < 0.001) of these markers compared to OSMF without dysplasia.

Conclusions

The present study reports differences in cell proliferation rates, myofibroblast and MMP-9 expression between OSMF and OL. The higher expression of these markers in OSMF with dysplasia suggests accelerated disease progression and enhanced potential for transformation into oral squamous cell carcinoma (OSCC). These findings highlight variations in the tissue microenvironment of OPMDs, influencing their biological behaviour and prognosis.

本研究旨在比较分析Ki-67、α-平滑肌肌动蛋白（α-SMA）和基质金属蛋白酶-9 （MMP-9）在口腔黏膜白斑（OL）和口腔黏膜下纤维化（OSMF）中伴和不伴发育不良的免疫表达。目的是确定这些生物标志物在口腔潜在恶性疾病（OPMDs）的诊断和预后中的潜在作用，以及它们作为干预目标的潜力。材料和方法对70个福尔马林固定石蜡包埋组织块进行Ki-67、α-SMA和MMP-9的免疫组化染色，包括正常颊黏膜（n = 10）、OSMF （n = 30）和OL (n = 30)，其中发育不良和非发育不良各15例。比较评价这些标志物在有和没有发育不良的OSMF和OL中的表达。结果Ki-67、MMP-9、α-SMA的免疫表达显著增高(p <；0.001)，与相应的发育不良对照者相比。此外，伴有发育不良的OSMF表现出明显更高的表达(p <；0.001)，与没有发育不良的OSMF相比。结论OSMF和OL在细胞增殖率、肌成纤维细胞和MMP-9表达方面存在差异。这些标志物在伴有不典型增生的OSMF中较高的表达表明疾病进展加快，转化为口腔鳞状细胞癌（OSCC）的可能性增强。这些发现强调了opmd组织微环境的变化，影响其生物学行为和预后。

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引用次数: 0

Impact of HPV detection and p16-Ki67 expression on prognosis in anal cancer patients HPV检测及p16-Ki67表达对肛门癌患者预后的影响

Q4 Medicine

Revista Espanola de Patologia

Pub Date : 2025-03-13 DOI: 10.1016/j.patol.2025.100806

Susana Pineda Contreras , Aracelly Quiroz Lagos , Joel Herrera Soto , Cristian Reyes Vergara , Tiare de la Barra Vivallos , Eliu Elgorriaga Islas , Sonia Montenegro Heredia

Introduction

HPV infection has been associated with squamous cell carcinoma of the head and neck, genital tract and anal canal. HPV has two oncogenic genes, including E6 and E7, which are responsible for carcinogenesis. Ki67 and p16 have been used as biomarkers of HPV genome integration in the host cell.

Aim

To analyse the prognostic role of HPV status and p16/Ki67 expression in malignant lesions of the anal canal.

Methods

A retrospective study conducted from 2013 to 2016, including 40 biopsies.

Results

Histologic classification of the samples was: 9 samples of invasive carcinoma (ASCC); 9 of anal intraepithelial neoplasia (AIN) II/III; 8 condylomas; 14 non-tumoral lesions. For HPV detection we used nested-real time PCR for E6/E7. The determination of p16INK4a and Ki67 was carried out by immunohistochemistry. Additionally, demographic information was analysed. Among the 9 ASCC cases, 8 were p16-Ki67 positive and high-risk HPV positive. Of the 9 AIN II/III cases, 8 (88.8%) were HR-HPV and p16-Ki67 positive; all cancer cases were HPV-16. Out of the 8 condyloma cases, 2 (25%) were HR/LR HPV, 5 (62.5%) were LR-HPV, and 100% p16/Ki67 negative. Of the 14 non-tumoral lesions, all biomarkers tested negative.

Discussion

High- and low-risk HPV genotyping helps predict the prognosis of anal canal lesions. High-risk HPV infection and p16 overexpression are associated with malignant tumoral lesions.

hpv感染与头颈部、生殖道和肛管的鳞状细胞癌有关。HPV有两个致癌基因，包括E6和E7，它们是致癌的原因。Ki67和p16已被用作宿主细胞中HPV基因组整合的生物标志物。目的分析HPV状态及p16/Ki67在肛管恶性病变中的表达对预后的影响。方法对2013 - 2016年40例活检进行回顾性研究。结果：9例为浸润性癌（ASCC）；肛门上皮内瘤变（AIN） II/III型9例；8湿疣;14个非肿瘤病变。对E6/E7采用巢式实时PCR检测。免疫组化法检测p16INK4a和Ki67。此外，还分析了人口统计资料。9例ASCC中p16-Ki67阳性8例，高危HPV阳性8例。9例AIN II/III型病例中，8例（88.8%）为HR-HPV和p16-Ki67阳性；所有癌症病例均为HPV-16型。在8例尖锐湿疣病例中，2例（25%）为HR/LR HPV， 5例（62.5%）为LR-HPV， 100%为p16/Ki67阴性。在14个非肿瘤病变中，所有生物标志物检测均为阴性。高危和低危HPV基因分型有助于预测肛管病变的预后。高危HPV感染和p16过表达与恶性肿瘤病变相关。

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引用次数: 0

Nodular hidradenoma: Case report and brief literature review 结节性汗腺瘤：1例报告及简要文献复习

Q4 Medicine

Revista Espanola de Patologia

Pub Date : 2025-02-28 DOI: 10.1016/j.patol.2025.100801

Miguel Mansilla-Polo , Josselyn Andrea Hernández-Chinchilla , Margarita Llavador-Ros , Rafael Botella-Estrada

In this article, we present the case of a 42-year-old woman with an asymptomatic papulonodular lesion on her right forearm appearing approximately two years before. An excisional biopsy subsequently yielded a histological diagnosis of nodular hidradenoma (NH). This case highlights the clarity of the clinical, dermatoscopic and histopathological images. We also discuss the need to consider other differential diagnoses, some of which are malignant, such as hydroadenocarcinoma, basal cell carcinoma, and amelanotic melanoma. By sharing this case, we aim to contribute to the dermatological and pathological community's knowledge, promote discussion of diagnostic strategies, and emphasize the importance of interdisciplinary collaboration.

在这篇文章中，我们提出的情况下，42岁的妇女与无症状丘疹结节性病变出现在她的右前臂大约两年前。切除活检随后产生了结节性汗腺瘤（NH）的组织学诊断。本病例强调临床，皮肤镜和组织病理学图像的清晰度。我们还讨论了考虑其他鉴别诊断的必要性，其中一些是恶性的，如腺氢癌、基底细胞癌和无色素黑色素瘤。通过分享这个病例，我们的目标是促进皮肤病学和病理学社区的知识，促进诊断策略的讨论，并强调跨学科合作的重要性。

引用次数: 0

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

Q4 Medicine

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

Background

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.

Objective

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.

Materials and methods

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.

Results

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.

Conclusions

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.

肾小球疾病是一组多种多样的疾病，在临床表现、病理生理、诊断和治疗方面存在差异。肾活检是确定其病因和预后的必要条件。目的根据1988年至2023年在哥伦比亚安蒂奥基亚大学医学院病理学系进行的组织病理学研究，描述肾小球疾病的流行病学。材料和方法对1988年至2023年间接受肾活检的肾小球疾病患者进行了回顾性、描述性、横断面研究。对他们的社会人口学、临床、实验室和药理学特征进行描述性分析。结果共分析组织病理学报告4567份。其中56.6%是女性，平均年龄为32岁。肾病综合征是肾活检最常见的指征（35.0%）。狼疮性肾炎是最常见的诊断（28.2%），其次是局灶节段性肾小球硬化（16.6%）。在成人中，狼疮肾炎和局灶节段性肾小球硬化是最常见的诊断，而在儿童中，最小变化疾病和局灶节段性肾小球硬化是最常见的。结论肾小球疾病的类型与年龄、性别等社会人口学因素有关。狼疮性肾炎和局灶节段性肾小球硬化是最常见的肾小球疾病。活检的主要适应症是肾病综合征和尿沉渣异常。

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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

Q4 Medicine

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

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.

横纹肌肉瘤（Rhabdomyosarcoma， RMS）是儿童和青少年中最常见的肉瘤，以头颈部、四肢和泌尿生殖道为最常见的部位。唾液腺横纹肌肉瘤在儿童中很少见，很容易被误认为是良性的。我们报告一个病例横纹肌肉瘤在腮腺区域，临床和细胞学伪装为良性腮腺肿瘤，导致诊断困难。然而，切除标本的组织形态学和免疫表型特征与横纹肌肉瘤一致。这名儿童接受了全腮腺切除术和化疗，目前情况良好，无复发。虽然细胞学检查是微创的，并且具有良好的特异性，但也有罕见的病例，如本例，组织病理学提供了明确的诊断。本报告旨在提高临床医生、细胞病理学家和放射科医生对腮腺RMS的认识，帮助这些病例的早期诊断和治疗。

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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

Q4 Medicine

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

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 GUSB 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 GUSB gene, but both of uncertain meaning. Subsequent histological findings suggested that these GUSB gene variants resulted in MPS VII.

粘多糖病（MPS）是一组由糖胺聚糖（GAGs）积累引起的疾病。目前，已经报道了11种酶缺陷，8种不同的MPS亚型。MPS VII，也被称为Sly综合征，是一种由GUSB基因的致病变异引起的隐性疾病。这导致酶β-葡萄糖醛酸酶功能障碍，可导致非免疫性积水胎儿（NIHF）。患者为22周胎儿，病理性颈部半透明，根据放射学标准预后不良；结果，父母双方都选择了终止妊娠。尸检显示了NIHF的几个特征。此外，显微镜检查显示广泛的组织细胞和微空泡细胞质。基因检测显示，GUSB基因的外显子8存在双等位基因变异，但两者的意义都不确定。随后的组织学结果表明，这些GUSB基因变异导致MPS VII。

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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

Q4 Medicine

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

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.

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.

原发部位不明的癌症（CUP）常常表现出不典型的临床表现，这给确定原发肿瘤带来了挑战。本文讨论了一例 CUP 脑转移患者，尸检后最终诊断为肺多形性癌。临床上，尽管影像学检查最初提示原发性肺肿瘤，但腹膜癌肿的发生降低了对原发性肺肿瘤的怀疑。然而，患者之前曾接受过腰腹部（LP）分流术。除了本病例报告外，我们还对有关脑室腹腔（VP）分流和腰腹腔分流在肿瘤转移扩散中的作用的文献进行了系统回顾。虽然原发性脑肿瘤通过脑室腹腔分流管或腹腔分流管扩散的情况非常罕见，但这种现象在继发性肿瘤中仅有两次报道。

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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

Q4 Medicine

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

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.

支气管源性囊肿是一种罕见的先天性囊性病变。发生在前纵隔的胸膜内支气管源性囊肿极为罕见。这些囊肿表现为纵隔肿块，一般无症状，往往是偶然诊断出来的。尽管这些囊肿是良性的，但其胸膜内位置和多变的放射学外观可能会模仿胸腺瘤等更常见的疾病。手术切除是确诊的首选治疗方法。我们报告了一例因怀疑前纵隔胸腺瘤而进行胸腺部分切除术的病例，该病例随后在病理检查中被确定为支气管源性囊肿。

引用次数: 0

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