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Testicular metastasis of prostate adenocarcinoma: the other side of orchiepididymitis. 前列腺癌的睾丸转移:睾丸附睾炎的另一面。
IF 3.5 Pub Date : 2024-02-01 DOI: 10.32074/1591-951X-940
Gianluca Di Rienzo, Alessandro Tafuni, Umberto Maestroni, Livia Ruffini, Enrico Maria Silini, Donatello Gasparro, Francesco Paolo Pilato, Letizia Gnetti

Background: Metastatic prostate adenocarcinoma is a rare event and there are few references to this topic. We report an unusual case of prostate cancer metastasis and review of contemporary literature. Moreover, we discuss the pathogenesis and the clinical aspects of this event.

Case presentation: A 70-year-old patient was admitted to the hospital for right scrotal pain. The ultrasound examination described an increase in testicular size, suggesting the possibility of orchiepididymitis. Past medical history reported a previous prostate adenocarcinoma. Inflammatory blood tests were normal. Importantly, PSA was 3.3 ng/ml. PET scan positivity in the scrotum raised suspicion of a relapse. Therefore, he underwent right orchiectomy.

Conclusion: Although metastatic prostate adenocarcinoma is rare, a correct diagnosis is of paramount importance because the therapy changes accordingly. Patients who complain of scrotal pain need to be examined accurately. Although the most common cause behind this symptom is infectious, the patient's past medical history should be reviewed to exclude previous malignancies.

背景:转移性前列腺腺癌是一种罕见病,有关这一主题的参考文献很少。我们报告了一例不寻常的前列腺癌转移病例,并对当代文献进行了回顾。此外,我们还讨论了该病例的发病机制和临床表现:一名 70 岁的患者因右阴囊疼痛入院。超声波检查显示睾丸增大,提示可能患有睾丸炎。既往病史显示曾患有前列腺腺癌。炎症血液化验结果正常。重要的是,PSA 为 3.3 纳克/毫升。阴囊正电子发射计算机断层扫描(PET)呈阳性,让人怀疑是复发。因此,他接受了右侧睾丸切除术:结论:虽然转移性前列腺腺癌很少见,但正确诊断至关重要,因为治疗方法也会随之改变。对主诉阴囊疼痛的患者需要进行准确检查。虽然这种症状最常见的原因是感染,但也应回顾患者的既往病史,以排除恶性肿瘤。
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引用次数: 0
Biphenotypic lung carcinoma with coexpression of TTF-1 and ΔNP63/P40 within most of the same individual cells: a further case confirming poor prognosis and a review of literature. 在大多数相同的单个细胞中TTF-1和ΔNP63/P40共表达的双型肺癌:又一例证实预后不良的病例及文献综述。
IF 3.5 Pub Date : 2024-02-01 DOI: 10.32074/1591-951X-957
Alessandro Marando, Moreno Zagni, Mariachiara Negrelli, Emanuele Valtorta, Calogero Lauricella, Valentina Motta, Silvio Veronese, Giulio Cerea, Laura Giuseppina Giannetta, Gabriele Ciarlo, Diego Signorelli, Elio Gregory Pizzutilo, Emanuela Bonoldi, Giuseppe Pelosi

The WHO Classification of Tumors, Thoracic Tumors, 5th edition, has outlined the use of TTF-1 and ΔNP63/P40 to discriminate between adenocarcinoma and squamous cell carcinoma. In 2015, the first description of a rare non-small cell lung carcinoma featuring co-expression of glandular and squamous differentiation within most of the same individual tumor cells was reported on, with ultrastructural and molecular demonstration of such a biphenotypic differentiation. We herein describe an additional case of this rare tumor entity, which is confirmed to be an aggressive neoplasm despite potential targets of therapy.

世界卫生组织肿瘤分类--胸部肿瘤》第五版概述了使用TTF-1和ΔNP63/P40来区分腺癌和鳞癌。2015 年,首次报道了一种罕见的非小细胞肺癌,其特点是在大多数相同的单个肿瘤细胞中同时表达腺分化和鳞分化,并在超微结构和分子上证明了这种双型分化。我们在此描述了这一罕见肿瘤实体的另一个病例,该病例被证实是一种侵袭性肿瘤,尽管有潜在的治疗目标。
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引用次数: 0
Pleomorphic/solid lobular carcinoma of male breast with PALB2 germline mutation: case report and literature review. 伴有 PALB2 基因突变的男性乳腺多形性/实性小叶癌:病例报告和文献综述。
IF 3.5 Pub Date : 2024-02-01 DOI: 10.32074/1591-951X-936
Evelina Rogges, Tiberio Corati, Michelina Amato, Domenico Campagna, Juliette Farro, Simona De Toffol, Lucio Fortunato, Leopoldo Costarelli

Male breast cancer (MBC) accounts for approximately 1% of all breast cancers and among these infiltrating lobular carcinomas (ILC) represents only 1-2% of all MBC cases. Pleomorphic invasive lobular carcinoma (PILC) is an aggressive variant of ILC with only eight cases reported until now in males. Up to 10% of MBC cases have a germline pathogenic variant in a predisposing gene such as BRCA1 and BRCA2 genes. Mutations in PALB2 (partner and localizer of BRCA2) have been reported in men with breast cancer, with a frequency that ranges from 0.8 to 6.4%, but it has never been reported in male ILC. Here, we report a rare and interesting case of an invasive pleomorphic/solid lobular carcinoma, which carries a pathogenic variant in PALB2 gene, and a family history of breast cancer without other well defined risk factors for developing this type of neoplasia. In addition, we review the current literature.

男性乳腺癌(MBC)约占所有乳腺癌的 1%,其中浸润性小叶癌(ILC)仅占所有 MBC 病例的 1-2%。多形浸润性小叶癌(PILC)是浸润性小叶癌的一种侵袭性变异,迄今为止仅有八例男性病例报道。多达10%的MBC病例的易感基因(如BRCA1和BRCA2基因)存在种系致病变异。在男性乳腺癌患者中,PALB2(BRCA2 的伴侣和定位基因)的突变也有报道,其发生率从 0.8% 到 6.4% 不等,但在男性 ILC 中却从未有过报道。在此,我们报告了一例罕见而有趣的浸润性多形性/实性小叶癌病例,该病例携带 PALB2 基因的致病变体,且有乳腺癌家族史,没有其他明确的罹患此类肿瘤的危险因素。此外,我们还回顾了目前的文献。
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引用次数: 0
Biomarker characterization in endometrial cancer in Europe: first survey data analysis from 69 pathological academic and hospital labs. 欧洲子宫内膜癌的生物标记特征:来自 69 个病理学术实验室和医院实验室的首次调查数据分析。
IF 3.5 Pub Date : 2024-02-01 DOI: 10.32074/1591-951X-926
Angela Santoro, Emma Bragantini, Francesca Castiglione, Raji Ganesan, Xavier Matias-Guiu, Milo Frattini, Valerio Gallotta, Pablo Garcia, Yatish Pattni, Julia Tsiampali-Laprell, Brigitte Bisaro, Mattia Barbareschi, Gian Franco Zannoni

Introduction: Endometrial carcinoma (EC) is the commonest gynecological cancer affecting women in Western populations. To predict patient risk, the 2020 edition of the World Health Organization (WHO) Classification of Tumors of the Female Genital Tract stressed the importance of integrated histo-molecular classification of the disease. This survey analysis poses attention on the most frequently used immunohistochemical and molecular markers adopted in daily categorization of ECs in European laboratories.

Methods: We analyzed data collected through questionnaires administered to 40 Italian, 20 Spanish, 3 Swiss and 6 United Kingdom (UK) laboratories. We collected information regarding daily practice in EC evaluation, specifically concerning mismatch repair status (MMR) and microsatellite instability (MSI). Summary and descriptive statistical analyses were carried out to evaluate the current practice of each laboratory.

Results: The results show that MMR status is mainly evaluated by using immunohistochemistry (IHC) on most EC samples. The most frequent approach for the analysis of MMR status is IHC of four proteins (PMS2, MSH6, MSH2, MLH1). MSI analysis by molecular methods is uncommon but useful as a supplemental tool in specific conditions. MLH1 promoter hypermethylation and BRAF V600 mutations analysis are performed in case of negative expression of MLH1/PMS2. Other markers (mainly p53 followed by POLE and PTEN) are investigated in particular in Spain and Switzerland in a consistent number of cases.

Conclusion: Guidelines consultation and standardization of laboratory procedures are efficient means for EC prognostic risk stratification and improving the quality of care.

简介子宫内膜癌(EC)是西方女性最常见的妇科癌症。为预测患者风险,世界卫生组织(WHO)2020 年版《女性生殖道肿瘤分类》强调了对该疾病进行组织-分子综合分类的重要性。本调查分析报告关注欧洲实验室在对EC进行日常分类时最常用的免疫组化和分子标记物:我们分析了通过向 40 家意大利实验室、20 家西班牙实验室、3 家瑞士实验室和 6 家英国实验室发放调查问卷收集到的数据。我们收集了有关EC评估日常实践的信息,特别是有关错配修复状态(MMR)和微卫星不稳定性(MSI)的信息。我们进行了汇总和描述性统计分析,以评估各实验室的现行做法:结果表明,大多数欧共体样本主要通过免疫组化(IHC)来评估MMR状态。最常见的 MMR 状态分析方法是对四种蛋白(PMS2、MSH6、MSH2、MLH1)进行 IHC 分析。通过分子方法进行 MSI 分析并不常见,但在特定情况下可作为补充工具。在 MLH1/PMS2 阴性表达的情况下,可进行 MLH1 启动子高甲基化和 BRAF V600 突变分析。其他标记物(主要是 p53,其次是 POLE 和 PTEN)的检测在西班牙和瑞士的病例中数量一致:结论:指南咨询和实验室程序标准化是欧共体预后风险分层和提高护理质量的有效手段。
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引用次数: 0
How to measure your microscope's HPF. A critical guide for residents. 如何测量显微镜的 HPF。住院医生的重要指南。
IF 3.5 Pub Date : 2023-12-01 DOI: 10.32074/1591-951X-900
Salvatore Lorenzo Renne

Counting stuff under the microscope is part of the duties of a surgical pathologist. Many textbooks and articles still report the surface area as the number of high-power fields (HPFs) counted. This is bad, since the area displayed by an HPF varies between two microscopes. It is therefore necessary to express the surface as mm2. This is a how to guide written for the resident who has to measure the HPF of the microscope for the first time. The Resident can either calibrate the microscope with a stage micrometer slide (a small ruler on a glass slide) or compute the surface area of the HPF using the numbers on the eyepiece and the magnification objective. for "10X/22" eyepiece and a "40X" objective, the diameter of the HPF is 22/40 = 0.55 (if no other magnification is present), and the surface is 0.238 mm2. The young resident might then ask: "How far off-target was I when I counted the number of HPFs that the chief resident declared to be correct?" Probably not that much: although legitimate in principle and correct in math, the size of the problem is often overstated since microscopes are not that different after all and because pathology is not just about counting.

在显微镜下计数是外科病理学家的职责之一。许多教科书和文章仍以高倍视野(HPF)的数量来报告表面积。这是不好的,因为两台显微镜的高倍视野所显示的面积是不同的。因此有必要用平方毫米来表示表面积。这是为第一次测量显微镜高倍视野的住院医生编写的指南。住院医师可以使用台式测微计载玻片(玻璃载玻片上的一把小尺子)校准显微镜,也可以使用目镜和放大倍率物镜上的数字计算 HPF 的表面积。对于 "10X/22 "目镜和 "40X "物镜,HPF 的直径为 22/40 = 0.55(如果没有其他放大倍率),表面积为 0.238 平方毫米。年轻的住院医师可能会问:"当我计算住院总医师宣布正确的 HPF 数量时,我偏离目标有多远?也许没有那么严重:虽然原则上是合理的,数学上也是正确的,但问题的严重性往往被夸大了,因为显微镜毕竟没有那么大的区别,而且病理学不仅仅是计算。
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引用次数: 0
Up-regulation by overexpression of c-MET in fibroblastic foci of usual interstitial pneumonia. 常见间质性肺炎成纤维细胞灶中c-MET过度表达的上调。
IF 3.5 Pub Date : 2023-12-01 Epub Date: 2023-10-09 DOI: 10.32074/1591-951X-920
Laura Melocchi, Giulia Cervi, Giuliana Sartori, Laura Gandolfi, Genny Jocollé, Alberto Cavazza, Giulio Rossi

Background: Usual interstitial pneumonia (UIP) is the radiologic and histologic hallmark of idiopathic pulmonary fibrosis (IPF) and the commonest histologic pattern of other progressive fibrosing interstitial lung diseases (e.g., fibrotic hypersensitivity pneumonia). Analogous to lung cancer, activation of epithelial-to-mesenchymal transition (EMT) is one of the main molecular pathways recently identified by transcriptomic studies in IPF. Fibroblastic foci (FF) are considered the active/trigger component of UIP pattern. The proto-oncogene C-MET is a key gene among molecules promoting EMT against which several inhibitors are currently available or promising in ongoing studies on lung cancer.

Methods: Twenty surgical cases of diffuse fibrosing interstitial lung diseases (fILD) with UIP pattern and FF-rich (17 IPF and 3 patients with fibrotic hypersensitivity pneumonia, fHP) were retrospectively selected. FF were manually microdissected and analysed for c-MET gene alterations (FISH amplification and gene hot-spot mutations Sanger sequencing) and tested with a c-MET companion diagnostic antibody (clone SP44 metmab) by immunohistochemistry.

Results: FF are characterized by upregulation of c-MET as shown by overexpression of the protein in 80% of cases, while no gene amplification by FISH or mutations were detected. C-MET upregulation of FF was observed either in IPF and fHP, with a tropism for the epithelial cell component only.

Conclusion: Upregulation of c-MET in FF of ILD with UIP pattern further confirms the key role of the proto-oncogene c-MET in its pathogenesis, possibly representing an interesting and easily-detectable molecular target for selective therapy using specific inhibitors in future clinical trials, similar to lung cancer. It is reasonable to speculate that molecular alterations in FF can also be detected in FF by transbronchial cryobiopsy.

背景:常见的间质性肺炎(UIP)是特发性肺纤维化(IPF)的放射学和组织学标志,也是其他进行性纤维化间质性肺部疾病(如纤维超敏性肺炎)最常见的组织学模式。与癌症类似,上皮-间质转化(EMT)的激活是最近通过转录组学研究在IPF中确定的主要分子途径之一。成纤维细胞灶(FF)被认为是UIP模式的主动/触发成分。原癌基因C-MET是促进EMT的分子中的一个关键基因,目前已有几种抑制剂可用于或有望用于正在进行的癌症研究。方法:回顾性选择20例UIP型和富含FF的弥漫性纤维化间质性肺疾病(fILD)的手术病例(17例IPF和3例纤维超敏性肺炎(fHP))。手动显微切割FF并分析c-MET基因改变(FISH扩增和基因热点突变Sanger测序),并通过免疫组织化学用c-MET伴随诊断抗体(克隆SP44 metmab)进行测试。结果:FF的特征是c-MET的上调,如80%的病例中蛋白的过度表达所示,而FISH未检测到基因扩增或突变。在IPF和fHP中观察到C-MET上调FF,仅对上皮细胞成分具有嗜性。结论:c-MET在UIP模式ILD FF中的上调进一步证实了原原代c-MET在其发病机制中的关键作用,可能代表了在未来临床试验中使用特异性抑制剂进行选择性治疗的一个有趣且易于检测的分子靶点,类似于癌症。可以合理地推测,通过经支气管冷冻活检也可以在FF中检测到FF的分子改变。
{"title":"Up-regulation by overexpression of c-MET in fibroblastic foci of usual interstitial pneumonia.","authors":"Laura Melocchi, Giulia Cervi, Giuliana Sartori, Laura Gandolfi, Genny Jocollé, Alberto Cavazza, Giulio Rossi","doi":"10.32074/1591-951X-920","DOIUrl":"10.32074/1591-951X-920","url":null,"abstract":"<p><strong>Background: </strong>Usual interstitial pneumonia (UIP) is the radiologic and histologic hallmark of idiopathic pulmonary fibrosis (IPF) and the commonest histologic pattern of other progressive fibrosing interstitial lung diseases (e.g., fibrotic hypersensitivity pneumonia). Analogous to lung cancer, activation of epithelial-to-mesenchymal transition (EMT) is one of the main molecular pathways recently identified by transcriptomic studies in IPF. Fibroblastic foci (FF) are considered the active/trigger component of UIP pattern. The proto-oncogene C-MET is a key gene among molecules promoting EMT against which several inhibitors are currently available or promising in ongoing studies on lung cancer.</p><p><strong>Methods: </strong>Twenty surgical cases of diffuse fibrosing interstitial lung diseases (fILD) with UIP pattern and FF-rich (17 IPF and 3 patients with fibrotic hypersensitivity pneumonia, fHP) were retrospectively selected. FF were manually microdissected and analysed for c-MET gene alterations (FISH amplification and gene hot-spot mutations Sanger sequencing) and tested with a c-MET companion diagnostic antibody (clone SP44 metmab) by immunohistochemistry.</p><p><strong>Results: </strong>FF are characterized by upregulation of c-MET as shown by overexpression of the protein in 80% of cases, while no gene amplification by FISH or mutations were detected. C-MET upregulation of FF was observed either in IPF and fHP, with a tropism for the epithelial cell component only.</p><p><strong>Conclusion: </strong>Upregulation of c-MET in FF of ILD with UIP pattern further confirms the key role of the proto-oncogene c-MET in its pathogenesis, possibly representing an interesting and easily-detectable molecular target for selective therapy using specific inhibitors in future clinical trials, similar to lung cancer. It is reasonable to speculate that molecular alterations in FF can also be detected in FF by transbronchial cryobiopsy.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10767799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41165575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Natural Language Processing to extract SNOMED-CT codes from pathological reports. 利用自然语言处理技术从病理报告中提取 SNOMED-CT 代码。
IF 3.5 Pub Date : 2023-12-01 DOI: 10.32074/1591-951X-952
Giorgio Cazzaniga, Albino Eccher, Enrico Munari, Stefano Marletta, Emanuela Bonoldi, Vincenzo Della Mea, Moris Cadei, Marta Sbaraglia, Angela Guerriero, Angelo Paolo Dei Tos, Fabio Pagni, Vincenzo L'Imperio

Objective: The use of standardized structured reports (SSR) and suitable terminologies like SNOMED-CT can enhance data retrieval and analysis, fostering large-scale studies and collaboration. However, the still large prevalence of narrative reports in our laboratories warrants alternative and automated labeling approaches. In this project, natural language processing (NLP) methods were used to associate SNOMED-CT codes to structured and unstructured reports from an Italian Digital Pathology Department.

Methods: Two NLP-based automatic coding systems (support vector machine, SVM, and long-short term memory, LSTM) were trained and applied to a series of narrative reports.

Results: The 1163 cases were tested with both algorithms, showing good performances in terms of accuracy, precision, recall, and F1 score, with SVM showing slightly better performances as compared to LSTM (0.84, 0.87, 0.83, 0.82 vs 0.83, 0.85, 0.83, 0.82, respectively). The integration of an explainability allowed identification of terms and groups of words of importance, enabling fine-tuning, balancing semantic meaning and model performance.

Conclusions: AI tools allow the automatic SNOMED-CT labeling of the pathology archives, providing a retrospective fix to the large lack of organization of narrative reports.

目的:使用标准化结构化报告(SSR)和 SNOMED-CT 等合适的术语可以加强数据检索和分析,促进大规模研究和合作。然而,在我们的实验室中,叙述性报告仍然非常普遍,因此需要采用替代性的自动标注方法。在这个项目中,我们使用自然语言处理(NLP)方法将 SNOMED-CT 代码与意大利数字病理部门的结构化和非结构化报告联系起来:对两个基于 NLP 的自动编码系统(支持向量机 SVM 和长短期记忆 LSTM)进行了训练,并将其应用于一系列叙述性报告:这两种算法对 1163 个案例进行了测试,在准确度、精确度、召回率和 F1 分数方面均表现良好,其中 SVM 的表现略优于 LSTM(分别为 0.84、0.87、0.83、0.82 vs 0.83、0.85、0.83、0.82)。通过整合可解释性,可以识别重要的术语和词组,从而进行微调,平衡语义和模型性能:人工智能工具可以对病理档案进行 SNOMED-CT 自动标注,从而解决了叙述性报告缺乏条理的问题。
{"title":"Natural Language Processing to extract SNOMED-CT codes from pathological reports.","authors":"Giorgio Cazzaniga, Albino Eccher, Enrico Munari, Stefano Marletta, Emanuela Bonoldi, Vincenzo Della Mea, Moris Cadei, Marta Sbaraglia, Angela Guerriero, Angelo Paolo Dei Tos, Fabio Pagni, Vincenzo L'Imperio","doi":"10.32074/1591-951X-952","DOIUrl":"10.32074/1591-951X-952","url":null,"abstract":"<p><strong>Objective: </strong>The use of standardized structured reports (SSR) and suitable terminologies like SNOMED-CT can enhance data retrieval and analysis, fostering large-scale studies and collaboration. However, the still large prevalence of narrative reports in our laboratories warrants alternative and automated labeling approaches. In this project, natural language processing (NLP) methods were used to associate SNOMED-CT codes to structured and unstructured reports from an Italian Digital Pathology Department.</p><p><strong>Methods: </strong>Two NLP-based automatic coding systems (support vector machine, SVM, and long-short term memory, LSTM) were trained and applied to a series of narrative reports.</p><p><strong>Results: </strong>The 1163 cases were tested with both algorithms, showing good performances in terms of accuracy, precision, recall, and F1 score, with SVM showing slightly better performances as compared to LSTM (0.84, 0.87, 0.83, 0.82 vs 0.83, 0.85, 0.83, 0.82, respectively). The integration of an explainability allowed identification of terms and groups of words of importance, enabling fine-tuning, balancing semantic meaning and model performance.</p><p><strong>Conclusions: </strong>AI tools allow the automatic SNOMED-CT labeling of the pathology archives, providing a retrospective fix to the large lack of organization of narrative reports.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10767798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139098923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A rare case of extrarenal Wilms tumor of the uterine corpus: comprehensive genomic profile and review of the literature. 一例罕见的肾外子宫体 Wilms 肿瘤:综合基因组图谱和文献综述。
IF 3.5 Pub Date : 2023-12-01 DOI: 10.32074/1591-951X-943
Lara Alessandrini, Angela Guerriero, Giada Munari, Biancamaria Del Forno, Luisa Santoro, Matteo Marchetti, Margherita Nardin, Roberto Tozzi, Matteo Fassan, Angelo Paolo Dei Tos

Wilms tumor (WT), or nephroblastoma, is an uncommon malignant neoplasm occurring in the kidney of pediatric patients. Its extrarenal location is extremely rare and has been reported in various sites, including the female genital tract, with only 9 cases arising in the uterine corpus. We present the case of an adult woman who underwent total abdominal hysterectomy due to a uterine mass causing persistent abdominal pain. The characteristic triphasic morphology (composed of epithelial, stromal, and blastemal elements) supported by a broad immunohistochemical panel, along with the imaging exclusion of a renal neoplasm, was diagnostic of WT of the uterus. For the first time, a comprehensive genomic profiling of a uterine primary WT was also performed by next-generation sequencing, disclosing alterations at the level of copy number variations in the genes ERBB2, FGFR23, FGF6, FGFR2, and RPS6KB1. All previously reported uterine cases were reviewed, with a summary of their main clinicopathologic characteristics, and the main differential diagnoses are presented. Further reports are needed to improve our knowledge about prognostic factors, clinical behavior and molecular alterations that could guide appropriate therapeutic decision making.

Wilms 肿瘤(WT)或肾母细胞瘤是一种不常见的恶性肿瘤,好发于儿童患者的肾脏。其肾外部位极为罕见,有报道称其发生在不同部位,包括女性生殖道,其中仅有 9 例发生在子宫体。我们介绍了一例因子宫肿块引起持续性腹痛而接受全腹子宫切除术的成年女性病例。其特征性的三相形态(由上皮、基质和胚芽成分组成)得到了广泛免疫组化的支持,同时影像学排除了肾脏肿瘤的可能性,因此诊断为子宫 WT。该研究还首次通过新一代测序技术对子宫原发性 WT 进行了全面的基因组分析,发现 ERBB2、FGFR23、FGF6、FGFR2 和 RPS6KB1 等基因存在拷贝数变异。我们回顾了以前报道的所有子宫病例,总结了这些病例的主要临床病理特征,并介绍了主要的鉴别诊断方法。我们需要更多的报告来提高我们对预后因素、临床表现和分子改变的认识,从而指导我们做出适当的治疗决策。
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引用次数: 0
Pulmonary leiomyosarcoma arising in pulmonary hamartoma: an exceptional occurrence in a rare tumor. 肺火腿肠瘤中出现的肺亮肌肉瘤:罕见肿瘤中的罕见病例。
IF 3.5 Pub Date : 2023-12-01 DOI: 10.32074/1591-951X-941
Stefano Lucà, Marco Montella, Riccardo Monti, Marina Accardo, Giovanni Savarese, Roberto Sirica, Alfonso Fiorelli, Floriana Morgillo, Renato Franco

A solitary peripheral lung nodule was found in the left lung of a 52-year-old man. It was located in the lower lobe and measured 18.5 cm of major axis on chest computed tomography. A tru-cut core biopsy was obtained and a proliferation of bland, monomorphic, spindle cells in interlacing fascicles was observed. Accordingly, a surgical resection of the neoplasm was subsequently carried out. Macroscopically, the tumor appeared as a well-circumscribed nodule with a firm and whitish cut surface. Histologically, the neoplasm was predominantly composed of bland and monomorphic spindle cells, with a predominantly fascicular growth pattern, in which many tubular and cleft-like spaces of entrapped normal respiratory epithelium were involved. Myxoid change, stromal hyalinization and scattered bizarre mononucleated and multinucleated cells were also observed. Based on clinico-morphological, immunophenotypical and molecular features, we made a diagnosis of malignant transformation of pulmonary adenoleiomyomatous hamartoma into pulmonary leiomyosarcoma. As far as we know, this is the first described case of this exceptionally rare occurrence in an already rare neoplasm.

在一名 52 岁男子的左肺中发现了一个单发的周边肺结节。该结节位于肺下叶,胸部计算机断层扫描显示其主轴长 18.5 厘米。对该结节进行了切核活检,观察到平滑、单形、纺锤形细胞增生,呈交错束状。因此,随后对肿瘤进行了手术切除。从宏观上看,肿瘤是一个圆形结节,切面坚硬,呈白色。组织学上,肿瘤主要由平淡无奇的单形纺锤形细胞组成,以束状生长为主,其中有许多管状和裂隙状的正常呼吸道上皮细胞。此外,还观察到肌样变、基质透明化以及散在的奇异单核和多核细胞。根据临床形态学、免疫表型和分子特征,我们诊断为肺腺泡肌瘤恶性转化为肺亮肌肉瘤。据我们所知,这是第一例在一种已经非常罕见的肿瘤中发生这种异常罕见情况的病例。
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引用次数: 0
Think "HER2" different: integrative diagnostic approaches for HER2-low breast cancer. 与众不同的 "HER2 "思维:针对 HER2 低乳腺癌的综合诊断方法。
IF 3.5 Pub Date : 2023-12-01 DOI: 10.32074/1591-951X-942
Caterina Marchiò, Carmen Criscitiello, Cristian Scatena, Alfredo Santinelli, Paolo Graziano, Umberto Malapelle, Giulia Cursano, Konstantinos Venetis, Giuseppe Nicolò Fanelli, Francesco Pepe, Enrico Berrino, Carmine De Angelis, Giuseppe Perrone, Giuseppe Curigliano, Nicola Fusco

This work explores the complex field of HER2 testing in the HER2-low breast cancer era, with a focus on methodological aspects. We aim to propose clear positions to scientific societies, institutions, pathologists, and oncologists to guide and shape the appropriate diagnostic strategies for HER2-low breast cancer. The fundamental question at hand is whether the necessary tools to effectively translate our knowledge about HER2 into practical diagnostic schemes for the lower spectrum of expression are available. Our investigation is centered on the significance of distinguishing between an immunohistochemistry (IHC) score 0 and score 1+ in light of the clinical implications now apparent, as patients with HER2-low breast cancer become eligible for trastuzumab-deruxtecan treatment. Furthermore, we discuss the definition of HER2-low beyond its conventional boundaries and assess the reliability of established diagnostic procedures designed at a time when therapeutic perspectives were non-existent for these cases. In this regard, we examine potential complementary technologies, such as gene expression analysis and liquid biopsy. Ultimately, we consider the potential role of artificial intelligence (AI) in the field of digital pathology and its integration into HER2 testing, with a particular emphasis on its application in the context of HER2-low breast cancer.

这项工作探讨了在 HER2 低乳腺癌时代进行 HER2 检测的复杂领域,重点关注方法学方面。我们的目标是向科学协会、机构、病理学家和肿瘤学家提出明确的立场,以指导和制定适当的 HER2 低乳腺癌诊断策略。目前的根本问题是,是否有必要的工具来有效地将我们对 HER2 的了解转化为针对低表达谱的实用诊断方案。由于 HER2 低表达乳腺癌患者有资格接受曲妥珠单抗-德鲁司康治疗,我们的研究重点是区分免疫组化(IHC)0 分和 1+ 分的意义,因为这对临床的影响是显而易见的。此外,我们还讨论了超越传统界限的 HER2 低分值的定义,并评估了在对这些病例尚无治疗前景时设计的既定诊断程序的可靠性。在这方面,我们研究了潜在的补充技术,如基因表达分析和液体活检。最后,我们考虑了人工智能(AI)在数字病理学领域的潜在作用及其与 HER2 检测的整合,并特别强调了其在 HER2 低乳腺癌中的应用。
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引用次数: 0
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PATHOLOGICA
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