Revista Espanola de Patologia最新文献

英文中文

The implications of COX-2 and HER2 protein expression for the prognosis of colorectal cancer patients: An exploratory study from the North African region COX-2和HER2蛋白表达对结直肠癌患者预后的影响：来自北非地区的一项探索性研究

IF 0.5 Q4 Medicine

Revista Espanola de Patologia

Pub Date : 2025-09-01 DOI: 10.1016/j.patol.2025.100840

Fatima El Agy , Sara Bahja , Mohammed El Abkari , Sidi Adil Ibrahimi , Karima El Rhazi , Laila Chbani , Nada Lahmidani

Background

The prognostic value of COX-2 and HER2 protein overexpression in colorectal cancer remains controversial and has not previously been evaluated in North Africa. In this study, we investigated the association between COX-2 and HER2 overexpression, clinicopathological features and patient survival.

Methods

Seventy patients with stage I–IV colon adenocarcinoma were prospectively and retrospectively included in this study between 2016 and 2021. The expression of COX-2 and HER2 proteins was evaluated using tissue microarrays (4 μm). Overall survival (OS) and recurrence-free survival (RFS) outcomes were compared according to COX-2 and HER2 expression status using the Kaplan–Meier method.

Results

Positive expression of COX-2 and HER2 proteins was observed in 58 (82.9%) and 2 (2.9%) cases, respectively. COX-2 expression was associated with female sex, vascular invasion, lymph node metastasis, distant metastasis, TNM stage, and poor overall survival. HER2 expression was mainly associated with younger age, presence of positive LN and LN ratios, increased recurrence, and lower recurrence-free survival rate.

Conclusion

This study highlights the prognostic impact of COX-2 and HER2 expression in patients with colorectal cancer. The association of clinicopathological features with COX-2 and HER2 expression suggests the need to incorporate these two biomarkers into the pathomolecular classification of colorectal cancer. Based on survival analysis, COX-2 and HER2 expression were associated with shorter overall survival and recurrence-free survival in patients with colorectal cancer.

COX-2和HER2蛋白过表达在结直肠癌中的预后价值仍然存在争议，此前在北非尚未进行评估。在这项研究中，我们研究了COX-2和HER2过表达、临床病理特征和患者生存之间的关系。方法对2016年至2021年间70例I-IV期结肠腺癌患者进行前瞻性和回顾性研究。采用组织微阵列（4 μm）检测COX-2和HER2蛋白的表达。根据COX-2和HER2的表达情况，采用Kaplan-Meier法比较总生存期（OS）和无复发生存期（RFS）。结果COX-2阳性表达58例（82.9%），HER2阳性表达2例（2.9%）。COX-2表达与女性、血管侵犯、淋巴结转移、远处转移、TNM分期和总生存率差有关。HER2表达主要与年龄小、LN和LN阳性比例、复发率增加和无复发生存率低有关。结论本研究强调了COX-2和HER2表达对结直肠癌患者预后的影响。临床病理特征与COX-2和HER2表达的相关性表明，有必要将这两种生物标志物纳入结直肠癌的病理分子分类。基于生存分析，COX-2和HER2表达与结直肠癌患者较短的总生存期和无复发生存期相关。

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引用次数: 0

Non-meningothelial mesenchymal tumours of the CNS in the diagnostic practice of the pathologist 病理医师对中枢神经系统非脑膜上皮间质肿瘤的诊断实践

IF 0.5 Q4 Medicine

Revista Espanola de Patologia

Pub Date : 2025-08-30 DOI: 10.1016/j.patol.2025.100839

Karen Rocío Latorre Rodríguez , Ana Laura Calderón-Garcidueñas

Introduction

Primary mesenchymal tumours of the central nervous system with uncertain differentiation are rare. The 5th edition of the WHO classification groups three of these entities according to their molecular profiles into: intracranial mesenchymal tumours with FET-CREB fusion, sarcomas with CIC rearrangement, and primary intracranial sarcomas with DICER1 mutations. The objectives of this study were to carry out a systematic review of the literature and to determine whether a specific morphology predominates in relation to the proposed molecular types.

Materials and methods

A systematic review was performed using the PubMed database, with the search terms: “(sarcomas) and (central nervous system)”. Studies were included if they reported cases of patients with a diagnosis of primary sarcoma in the central nervous system (CNS) and provided information on both the molecular profile and histopathological characteristics.

Results

Of the 173 articles identified, eight were ultimately selected for analysis.

Conclusions

Histopathological differences were observed that may assist in diagnosis in the absence of molecular testing; however, follow-up data are required to evaluate the benefits of this classification in clinical practice.

分化不明确的中枢神经系统原发性间充质肿瘤是罕见的。世卫组织第5版分类根据其分子特征将其中三种实体分为：伴有FET-CREB融合的颅内间充质肿瘤、伴有CIC重排的肉瘤和伴有DICER1突变的原发性颅内肉瘤。本研究的目的是对文献进行系统的回顾，并确定是否有一种特定的形态在拟议的分子类型中占主导地位。材料和方法使用PubMed数据库进行系统综述，检索词为：“（肉瘤）和（中枢神经系统）”。如果研究报告了诊断为中枢神经系统（CNS）原发性肉瘤的患者病例，并提供了分子谱和组织病理学特征的信息，则纳入研究。结果在173篇文章中，最终选择了8篇进行分析。结论在缺乏分子检测的情况下，组织学上的差异可能有助于诊断；然而，需要随访数据来评估这种分类在临床实践中的益处。

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引用次数: 0

Pott's puffy tumour: A report of 2 cases highlighting tuberculosis as a microbiological cause 波特氏浮肿瘤：附2例报告，强调结核是微生物病因

IF 0.5 Q4 Medicine

Revista Espanola de Patologia

Pub Date : 2025-08-30 DOI: 10.1016/j.patol.2025.100843

Sana Ahuja , Dipanker Singh Mankotia , Sufian Zaheer

Pott's puffy tumour (PPT), characterized by subperiosteal abscess formation secondary to frontal bone osteomyelitis, is a rare clinical entity. This case series highlights tuberculosis as an unexpected cause of PPT. Two cases of PPT, diagnosed histologically and surgically managed within a one-year period, were retrospectively analyzed. Clinical, radiological, operative, and histopathological findings were evaluated. Both cases, aged 12 and 26 years respectively, presented with forehead swelling, headache, and low-grade fever. Imaging revealed subperiosteal abscesses involving the frontal bone. Surgical exploration and drainage confirmed PPT, with unexpected histopathological findings of tuberculosis. Anti-tubercular therapy led to symptom resolution and lesion regression. These cases underscore the need to consider tuberculosis as a differential diagnosis in PPT. Timely diagnosis and appropriate anti-tubercular therapy are critical for successful management and prevention of complications. Awareness of tuberculosis as a possible aetiological factor is particularly important in regions with a high disease burden.

Pott's puffative tumor （PPT）是一种罕见的临床疾病，其特征为继发于额骨骨髓炎的骨膜下脓肿形成。本病例系列强调肺结核是一种意想不到的PPT病因。回顾性分析两例经组织学诊断和手术治疗的一年内的PPT。对临床、放射学、手术和组织病理学结果进行评估。这两例患者分别为12岁和26岁，表现为额头肿胀、头痛和低烧。影像学显示骨膜下脓肿累及额骨。手术探查和引流证实PPT，并伴有意想不到的结核组织病理学结果。抗结核治疗导致症状缓解和病变消退。这些病例强调需要考虑肺结核作为鉴别诊断的PPT。及时诊断和适当的抗结核治疗是成功管理和预防并发症的关键。在疾病负担高的地区，认识到结核病是一种可能的病因尤为重要。

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引用次数: 0

Granular cell tumour of the breast: An uncommon benign lesion with suspicious radiological features. Case report and literature review 乳腺颗粒细胞瘤：一种少见的良性病变，影像学特征可疑。病例报告及文献复习

IF 0.5 Q4 Medicine

Revista Espanola de Patologia

Pub Date : 2025-08-30 DOI: 10.1016/j.patol.2025.100838

Sonia García-Fuertes , José Ignacio Franco-Rubio

Granular cell tumour is an uncommon benign lesion of neural lineage, associated with ATP6AP1 and ATP6AP2 inactivating mutations (endosomal pH regulators). These tumours typically develop in the head and neck region, particularly in the tongue, and are rarely found in the mammary gland, with an estimated incidence of 1:1000 of all breast tumours. They have similar clinical and radiological features, that usually mimic malignant lesions with spiculated margins. Histologically, they present a characteristic morphology, which may require differential diagnosis from other granular cell entities, including benign conditions (such as histiocyte-rich inflammatory reactions) and malignant neoplasms such as the histiocytoid variant of lobular carcinoma or apocrine carcinoma. We present a case of granular cell tumour of the breast, radiologically classified as BI-RADS 5, to highlight the importance of morphological and immunohistochemical studies for establishing a definitive diagnosis.

颗粒细胞瘤是一种少见的神经系良性病变，与ATP6AP1和ATP6AP2失活突变（内体pH调节因子）有关。这些肿瘤通常发生在头颈部，特别是舌头，很少在乳腺中发现，估计发病率为1:1000。它们具有相似的临床和放射学特征，通常与具有针状边缘的恶性病变相似。组织学上，它们表现出一种特殊的形态，可能需要与其他颗粒细胞实体鉴别诊断，包括良性疾病（如富含组织细胞的炎症反应）和恶性肿瘤，如小叶癌或大汗腺癌的组织细胞样变异型。我们提出一例乳腺颗粒细胞瘤，放射学分类为BI-RADS 5，以强调形态学和免疫组织化学研究对建立明确诊断的重要性。

引用次数: 0

Importance of the pathologist in sample management at the sampling site in an interventional pulmonology unit: ROSE, EBUS-TBNA and EBUS-TBLNC 介入肺科科室病理学家在采样点样本管理中的重要性：ROSE、EBUS-TBNA和EBUS-TBLNC

Q4 Medicine

Revista Espanola de Patologia

Pub Date : 2025-07-07 DOI: 10.1016/j.patol.2025.100833

Beatriz Agredano-Ávila , Francisco Javier Velasco-Albendea , María Jesús Gil-Belmonte , Juan José Cruz-Rueda , Andrés López-Pardo

引用次数: 0

Metastatic cellular neurothekeoma arising over a vaccination scar: A case report and literature review 转移性细胞神经瘤发生在疫苗接种疤痕：一个病例报告和文献复习

Q4 Medicine

Revista Espanola de Patologia

Pub Date : 2025-07-07 DOI: 10.1016/j.patol.2025.100832

Jairo Fuentes-Carrascal , Beatriz Orozco-Sebá , Esperanza Meléndez-Ramírez , Claudia Montoya-Maya , José Tovar-Berardinelli , Juan Marchán-Cárdenas , Jesús Pérez-García

Cellular neurothekeoma is a rare non-melanocytic skin neoplasm, considered benign and more common in children and young adults, primarily affecting the healthy skin of the head, neck, and scapular region. Based on the morphological findings of the initially reported cases, it was thought to originate from neural sheath cells. Clinical, morphological, and immunohistochemical correlation studies have demonstrated its dermal origin and the absence of neural markers, suggesting a fibrohistiocytic origin, though its histogenesis remains uncertain. They present as slow-growing, self-limiting dermal nodules with exceptional recurrence and very low metastatic potential.

We present the case of a child with a reddish, firm, asymptomatic nodule on a vaccination scar on the right shoulder, which was excised, after which an ipsilateral axillary mass developed. The histopathological examination of both lesions revealed a neoplasm with morphological and immunohistochemical characteristics consistent with metastatic cutaneous cellular neurothekeoma in a regional lymph node.

细胞性神经瘤是一种罕见的非黑素细胞性皮肤肿瘤，被认为是良性的，在儿童和年轻人中更常见，主要影响头部、颈部和肩胛骨区域的健康皮肤。根据最初报告病例的形态学发现，它被认为起源于神经鞘细胞。临床、形态学和免疫组织化学相关研究表明其真皮起源和缺乏神经标记物，提示纤维组织细胞起源，尽管其组织发生仍不确定。它们表现为生长缓慢，自我限制的皮肤结节，具有特殊的复发和非常低的转移潜力。我们提出的情况下，儿童与一个红色的，坚定的，无症状的结节接种疤痕上的右肩，这是切除后，一个同侧腋窝肿块发展。两个病变的组织病理学检查显示一个肿瘤，其形态和免疫组织化学特征与转移性皮肤细胞神经瘤在区域淋巴结一致。

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引用次数: 0

Identification of germline mutations in DICER1 through routine somatic NGS analysis in various neoplasms 通过常规体细胞NGS分析在各种肿瘤中鉴定DICER1的种系突变

Q4 Medicine

Revista Espanola de Patologia

Pub Date : 2025-07-07 DOI: 10.1016/j.patol.2025.100834

Leticia Gracia Sáenz , Svetlana Shalygina , Reyes Roca , Samanta Ortuño , Jose Luis Soto , Maria Tasso , Ana Beatriz Sánchez , Artemio Payá , Cristina Alenda

DICER1 syndrome is a genetic disorder that predisposes individuals to developing a wide variety of neoplasms with different histopathological characteristics across a broad age range. This study presents three clinical cases: a newborn with a chondromesenchymal hamartoma, an adolescent with embryonal rhabdomyosarcoma of the cervix, and a woman with pineoblastoma. In all the tumours, a routine next-generation sequencing (NGS) study detected a mutation in the DICER1 gene, suggestive of germline involvement, which was later confirmed in peripheral blood using Sanger sequencing.

DICER1综合征是一种遗传性疾病，使个体在广泛的年龄范围内易患多种具有不同组织病理特征的肿瘤。本研究提出了三个临床病例：一个新生儿与软骨间充质错构瘤，一个青少年胚胎性子宫颈横纹肌肉瘤，和一个妇女与松果体母细胞瘤。在所有肿瘤中，常规的下一代测序（NGS）研究检测到DICER1基因突变，提示生殖系参与，后来在外周血中使用Sanger测序证实了这一点。

引用次数: 0

Walking Together Towards Commitment and Excellence in Anatomical Pathology: A Shared Future 共同走向解剖病理学的承诺和卓越：共同的未来

Q4 Medicine

Revista Espanola de Patologia

Pub Date : 2025-07-01 DOI: 10.1016/j.patol.2025.100835

Lola Lozano

引用次数: 0

Diagnostic utility of bronchoalveolar lavage in pulmonary disorders 支气管肺泡灌洗在肺部疾病中的诊断价值

Q4 Medicine

Revista Espanola de Patologia

Pub Date : 2025-06-12 DOI: 10.1016/j.patol.2025.100830

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

Background

Pulmonary diseases represent a significant global health challenge, underscoring the need for accurate diagnostic methods to ensure effective management. Bronchoalveolar lavage (BAL) is an essential diagnostic tool, providing valuable insights into various lung conditions. However, despite its widespread application in pulmonology, limited studies have thoroughly evaluated its diagnostic value.

Materials and methods

A retrospective cohort study was conducted over one year to assess the diagnostic utility of BAL. Samples were obtained from patients undergoing BAL as part of their diagnostic workup. Demographic and clinicoradiological data were documented. The BAL fluids were processed and evaluated cytologically, with samples classified into diagnostic categories. In malignant cases, histopathological correlation was performed.

Results

A total of 187 BAL fluid samples were analysed, yielding diagnoses that included malignancy (7%), specific infections (6%), inflammatory conditions (43%), and others. BAL demonstrated high efficacy in identifying malignancies (PPV: 85%) and specific infections such as tuberculosis and fungal pneumonia. Histological correlation confirmed the diagnostic accuracy of BAL in malignancies, with a concordance rate of 78%.

Conclusion

BAL has proven to be a reliable method for detecting both neoplastic and non-neoplastic lung lesions. Its minimally invasive nature makes it a preferred alternative to needle biopsies, particularly in critically ill patients. Even when findings are nonspecific, BAL helps narrow down differential diagnoses. Additionally, the samples obtained can be used for molecular and microbiological analyses, further enhancing its diagnostic capabilities.

肺部疾病是一项重大的全球健康挑战，强调需要准确的诊断方法来确保有效的管理。支气管肺泡灌洗（BAL）是一种重要的诊断工具，为各种肺部疾病提供了有价值的见解。然而，尽管它在肺病学中广泛应用，但很少有研究彻底评估其诊断价值。材料和方法进行了一项为期一年的回顾性队列研究，以评估BAL的诊断价值。样本来自接受BAL治疗的患者，作为诊断检查的一部分。记录了人口统计学和临床放射学数据。对BAL液进行处理和细胞学评估，并将样本分类为诊断类别。恶性病例行组织病理学对比。结果共分析了187份BAL液体样本，诊断包括恶性肿瘤（7%）、特异性感染（6%）、炎症（43%）等。BAL在识别恶性肿瘤（PPV: 85%）和特异性感染（如肺结核和真菌性肺炎）方面表现出很高的疗效。组织学相关性证实BAL在恶性肿瘤中的诊断准确性，符合率为78%。结论bal是一种可靠的检测肺肿瘤和非肿瘤病变的方法。其微创性使其成为针活检的首选替代方法，特别是在危重患者中。即使发现是非特异性的，BAL也有助于缩小鉴别诊断的范围。此外，获得的样品可用于分子和微生物分析，进一步提高其诊断能力。

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Next generation sequencing unravels a gliosarcoma mimicking cerebral osteosarcoma 下一代测序揭示了一种模拟脑骨肉瘤的胶质肉瘤

Q4 Medicine

Revista Espanola de Patologia

Pub Date : 2025-05-10 DOI: 10.1016/j.patol.2025.100825

Clara Marti-Macia , Lara Navarro , Teresa San-Miguel , Javier Megias , Javier Carbonell-Zamorano , Moisés Sanchez-Pardo , Esther Roselló-Sastre

This study presents a case of a woman with recurrent headaches and nausea. Following initial surgery, the pathological diagnosis suggested primary cerebral osteosarcoma. However, despite osteosarcoma-directed chemotherapy, the patient experienced recurrence. A comprehensive diagnostic revision, including next generation sequencing, revealed mutations typical of glioblastoma. These findings highlight the challenges in the differential diagnosis of gliosarcoma, especially when the typical alternating biphasic pattern is not clearly present. The recurrent tumour displayed extensive chondroblastic osteosarcoma-like areas surrounded by glial tissue with vascular proliferation and atypical glial cells leading to a diagnosis of gliosarcoma. Our findings highlight the benefits of using NGS to assist pathologists in accurately diagnosing brain tumours, particularly in challenging cases. This approach is consistent with the progressive updates introduced by the WHO.

本研究报告了一位女性复发性头痛和恶心的病例。术后病理诊断为原发性脑骨肉瘤。然而，尽管进行了骨肉瘤定向化疗，患者还是复发了。全面的诊断修订，包括下一代测序，揭示了胶质母细胞瘤的典型突变。这些发现突出了胶质肉瘤鉴别诊断的挑战，特别是当典型的交替双相模式不明显时。复发肿瘤表现为广泛的成软骨骨肉瘤样区域，周围有血管增生的胶质组织和非典型胶质细胞，导致胶质肉瘤的诊断。我们的研究结果强调了使用NGS帮助病理学家准确诊断脑肿瘤的好处，特别是在具有挑战性的病例中。这一方法与世卫组织提出的逐步更新是一致的。

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