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Diagnostic Performance of the Milan System for Reporting Salivary Gland Cytopathology and a Proposed Algorithm for Fine-Needle Aspiration Cytology of Salivary Gland Lesions. 报告唾液腺细胞病理学的米兰系统的诊断性能和唾液腺病变细针穿刺细胞学的建议算法。
IF 1.7 4区 医学 Q3 PATHOLOGY Pub Date : 2025-01-01 Epub Date: 2025-04-21 DOI: 10.1159/000546005
Norihide Mochizuki, Hirotaka Fujita, Takuma Tajiri, Masataka Ueda, Makiko Kurata, Chie Inomoto, Tomoko Sugiyama, Daisuke Maki, Shuichi Shiraishi, Tomohisa Machida, Hitoshi Ito, Yohei Masugi, Naoya Nakamura

Introduction: We evaluated concordance between Milan System for Reporting Salivary Gland Cytopathology (MSRSGC)-based categorization of salivary gland masses/lesions screened by fine-needle aspiration cytology (FNAC) and final histopathologic diagnoses, aiming to identify factors predictive of concordance, with the goal of appropriate case management.

Methods: The study was retrospective and involved 101 cases of salivary mass/lesion examined by FNAC. We compared MSRSGC categories against the final histopathologic classes (non-neoplasm, benign neoplasm, or malignant neoplasm) and calculated diagnostic concordance in each class. Concordance was defined as: MSRSGC categorization of a lesion as a category II lesion and a histopathologic classification as a non-neoplasm; MSRSGC categorization of a lesion as a category IV-A lesion and a histopathologic classification as a benign neoplasm; or MSRSGC categorization of a lesion as a category V or VI lesion and a histopathologic classification as a malignant neoplasm. We then compared clinicopathologic factors between concordant and discordant cases.

Results: Diagnostic concordance for non-neoplasms, benign neoplasms, malignant neoplasms, and total cases was 81.8% (9/11), 81.7% (58/71), 66.6% (8/12), and 79.8% (75/94), respectively, with no significant between-class difference. We found the shortest distance from the body surface to the salivary lesion differed significantly between the concordant group and the discordant group (5.35 mm vs. 7.30 mm), and the optimal cutoff was determined to be 8.00 mm (p < 0.01).

Conclusion: Based on the distance of either <8 mm or ≥8 mm from the body surface to the mass/lesion, we believe our proposed FNAC algorithm of treatment strategies is a reliable guide for otolaryngologists on evaluating salivary gland lesions.

简介:我们评估了通过细针穿刺细胞学(FNAC)筛选的唾液腺肿块/病变的基于米兰唾液腺细胞病理学报告系统(MSRSGC)分类与最终组织病理学诊断之间的一致性,旨在确定预测一致性的因素,以实现适当的病例管理。方法:回顾性分析101例经FNAC检查的唾液肿块/病变。我们将MSRSGC分类与最终的组织病理分类(非肿瘤、良性肿瘤或恶性肿瘤)进行比较,并计算每一类的诊断一致性。一致性定义为:MSRSGC将病变分类为Ⅱ病变类别,组织病理学分类为非肿瘤;MSRSGC将病变分类为Ⅳ-A类病变和组织病理学分类为良性肿瘤;或MSRSGC将病变分类为Ⅴ或Ⅵ类病变,并将组织病理学分类为恶性肿瘤。然后,我们比较了一致病例和不一致病例的临床病理因素。结果:非肿瘤、良性肿瘤、恶性肿瘤和总病例的诊断符合率分别为81.8%(9/11)、81.7%(58/71)、66.6%(8/12)和79.8%(75/94),两组间差异无统计学意义。我们发现,和谐组和不和谐组体表到唾液腺病变的最短距离差异显著(5.35 mm vs. 7.30 mm),最佳临界值确定为8.00 mm (P < 0.01)。结论:基于体表到肿块/病变的距离<8mm或≧8mm,我们认为我们提出的治疗策略FNAC算法是耳鼻喉科医生评估唾液腺病变的可靠指南。
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引用次数: 0
New WHO Reporting System for Lung Cytopathology: Reproducibility Test of the Diagnosis and Usefulness of an Online Tutorial System for the New Cytological Categorization. 新的WHO肺细胞病理学报告系统:新的细胞学分类在线指导系统诊断和有用性的可重复性测试。
IF 1.7 4区 医学 Q3 PATHOLOGY Pub Date : 2025-01-01 Epub Date: 2025-05-28 DOI: 10.1159/000546179
Yuko Minami, Akemi Takenaka, Kenzo Hiroshima, Akihiko Yoshizawa, Reiji Haba, Kunimitsu Kawahara, Yasuo Shibuki, Shinji Miyake, Hirokuni Kakinuma, Yukitoshi Satoh

Introduction: Since no universal cytological classification system for lung cancer has been established, the Japanese Lung Cancer Society and the Japanese Society of Clinical Cytology (JSCC) jointly established and reported four cytological categories: negative for malignancy, atypical cells, suspicious for malignancy, and malignancy. In 2022, the WHO Reporting System for Lung Cytopathology was published. This system presented five cytological classifications, including the four cytological category classifications above and insufficient/inadequate/nondiagnostic. The creation of a classification alone is not practical in actual clinical practice. Thus, we evaluated the reproducibility of the classification through tutorials and identified the issues and problems involved in the wide dissemination of this classification.

Methods: Forty-two cases were selected from those used in previously published articles, and diagnosis and tutorial systems were created. The first diagnostic round and tutorial and the second diagnostic round were conducted on the web. Participants were recruited via the JSCC website and emails. Images (×100 and ×400) of the lesions to be diagnosed were categorizing by 4 cytological categories (benign, atypical, suspicious for malignancy, malignant), 7 suggestive pathological diagnoses, and 4 cytological features. The mean correct or incorrect answer rates for the 42 cases and the mean correct response rates for 105 participants were compared between the first and second rounds using McNemar's test and t tests to identify cases with diagnostic difficulties and high tutorial effects.

Results: Comparing the correct response to cytological categories, the results showed that 17 of 42 cases improved significantly. The mean number of correct answers for the four cytological categories increased significantly from 16.0 (38.1%) in the first round to 20.3 (48.3%) in the second round (p < 0.001). For the seven suggestive pathological diagnoses, the mean number of correct answers increased significantly from 20.3 (48.3%) in the first round to 25.1 (59.8%) in the second round (p < 0.001). The mean number of correct responses increased significantly from 40.2 (38%) in the first round to 51.5 (49%) in the second round (p = 0.0147). Four cases were difficult to match even after the tutorial and three cases were highly affected by the tutorial. The most important basis for diagnoses was nuclear findings in the first and second rounds.

Conclusion: Comprehensive tutorials on diagnostic criteria are needed to effectively implement this system globally. In particular, devising ways to appropriately diagnose cancers with mild atypia or without characteristic morphology is important.

由于目前尚无统一的肺癌细胞学分类体系,日本肺癌学会和日本临床细胞学学会(JSCC)联合建立并报道了恶性阴性、非典型细胞、恶性可疑、恶性肿瘤四种细胞学分类。2022年,世卫组织发布了《肺细胞病理学报告系统》。该系统提出了五种细胞学分类,包括上述四种细胞学分类和不充分/不充分/非诊断性。在实际的临床实践中,单独创建分类是不实际的。因此,我们通过教程评估了分类的可重复性,并确定了广泛传播该分类所涉及的问题和问题。方法从已发表的文献中选取42例病例,建立诊断和导师制。第一轮诊断和教程以及第二轮诊断是在网络上进行的。参与者是通过JSCC网站和电子邮件招募的。待诊断病变的影像(100x和400x)按4个细胞学分类(良性、不典型、可疑恶性、恶性)、7个病理提示诊断、4个细胞学特征进行分类。使用McNemar检验和t检验比较第一轮和第二轮中42例病例的平均正确或错误答案率以及105名参与者的平均正确反应率,以确定诊断困难和高指导效果的病例。结果42例患者中有17例对细胞学分类的正确反应有明显改善。四个细胞学类别的平均正确答案数从第一轮的16.0(38.1%)显著增加到第二轮的20.3 (48.3%)(p < 0.001)。对于7项暗含性病理诊断,平均正确率由第一轮的20.3次(48.3%)上升至第二轮的25.1次(59.8%)(p < 0.001)。平均正确回答数从第一轮的40.2(38%)显著增加到第二轮的51.5 (49%)(p = 0.0147)。4例患者在辅导后仍难以匹配,3例患者受辅导影响较大。诊断最重要的依据是第一轮和第二轮的核结果。结论要在全球范围内有效实施该系统,需要对诊断标准进行全面的指导。特别是,制定适当的方法来诊断轻度非典型性或没有特征性形态的癌症是重要的。
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引用次数: 0
Oncocytic Tumors in the Familial and Syndromic Contexts: A Tri-Focal Review - Integrated Cytopathological, Pathological, and Molecular Perspectives. 家族性和综合征背景下的嗜瘤细胞肿瘤:三焦点综述-综合细胞病理学,病理学和分子观点。
IF 1.7 4区 医学 Q3 PATHOLOGY Pub Date : 2025-01-01 Epub Date: 2025-04-03 DOI: 10.1159/000545321
Vania Nose, Maria Cristina Riascos, Vania Nosé

Background: Familial neoplastic syndromes are distinguished by the presence of specific neoplasms which serve as critical indicators for their suspicion and diagnosis. Among these, only a limited subset includes tumors with distinctive oncocytic features, highlights the necessity for pathologists and clinicians to pursue further investigation in affected patients and their families.

Summary: Advances in genetic research and diagnostic pathology have highlighted the germline predispositions underlying these tumors, which manifest across multiple organ systems, including thyroid, parathyroid, renal, and adrenal glands. This review examines the clinical, pathological, and molecular features of oncocytic neoplasms in the context of hereditary syndromes such as Carney complex, Li-Fraumeni syndrome, DICER1 syndrome, Birt-Hogg-Dubé syndrome, hyperparathyroidism-jaw tumor syndrome, hereditary leiomyomatosis and renal cell carcinoma syndrome, tuberous sclerosis syndrome, Beckwith-Wiedemann syndrome, and SDH-deficient hereditary paraganglioma/pheochromocytoma syndrome. It emphasizes the importance of recognizing syndromic associations through histopathological clues, genetic testing, and family history to facilitate accurate diagnosis and tailored management.

Key message: By integrating clinical insights with molecular data, this paper sheds light on the mechanisms driving oncocytic transformation and underscores the role of pathologists in identifying hereditary cancer syndromes.

背景:家族性肿瘤综合征是通过特定肿瘤的存在来区分的,这是怀疑和诊断的关键指标。其中,只有有限的子集包括具有独特的嗜瘤细胞特征的肿瘤,这突出了病理学家和临床医生对受影响的患者及其家属进行进一步调查的必要性。摘要:遗传学研究和诊断病理学的进展强调了这些肿瘤的生殖系易感性,这些肿瘤表现在多个器官系统,包括甲状腺、甲状旁腺、肾脏和肾上腺。本文综述了卡尼综合征、Li-Fraumeni综合征、DICER1综合征、birt - hogg - dub综合征、甲状旁腺功能亢进颌肿瘤综合征、遗传性平滑肌瘤病和肾细胞癌综合征、结节性硬化症、贝克威斯-维德曼综合征和sdh缺陷遗传性副神经节瘤/嗜铬细胞瘤综合征等遗传综合征背景下嗜瘤细胞肿瘤的临床、病理和分子特征。它强调通过组织病理学线索、基因检测和家族史来识别综合征相关性的重要性,以促进准确诊断和量身定制的管理。关键信息:通过将临床见解与分子数据相结合,本文揭示了驱动肿瘤细胞转化的机制,并强调了病理学家在识别遗传性癌症综合征中的作用。
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引用次数: 0
Oncocytic Tumors of the Pancreas: A Tri-Focal Review - Integrated Cytopathological, Pathological, and Molecular Perspectives. 胰腺嗜瘤细胞肿瘤:三焦点综述-综合细胞病理学、病理学和分子观点。
IF 1.7 4区 医学 Q3 PATHOLOGY Pub Date : 2025-01-01 Epub Date: 2025-08-22 DOI: 10.1159/000548119
Matthew W Rosenbaum, Mauro Saieg, Vikram Deshpande

Background: Oncocytic differentiation in pancreatic neoplasms is uncommon but can be seen in a wide range of neoplasms which range from borderline to highly aggressive behavior. Certain tumors, such as intraductal oncocytic papillary neoplasm (IOPN) of the pancreas, are oncocytic by default but many, such as pancreatic neuroendocrine tumors (PanNETs), can be oncocytic in a rare subset, often with clinical significance (like aggressive behavior). As such, the differential diagnosis can be broad and expertise is critical in teasing out the true diagnosis to guide treatment.

Summary: The differential diagnosis of an oncocytic neoplasm in the pancreas includes IOPN, acinar cell carcinoma, pancreatic ductal adenocarcinoma, PanNET, solid pseudopapillary neoplasms, and an array of other tumors (including metastatic disease). As the differential diagnosis is broad and diagnostic biopsies are often small, delineating these entities often requires examination of the clinical features, cytology, and immunohistochemistry, with molecular findings being useful in particularly difficult cases.

Key messages: Corroboration between clinical/radiology findings, cytologic features, histologic features, immunohistologic results, and molecular abnormalities is all extremely useful in delineating a specific entity among the broad differential diagnosis of entities with oncocytic differentiation in the pancreas.

背景:胰腺肿瘤中嗜酸细胞分化并不常见,但可以在从边缘性到高度侵袭性的多种肿瘤中看到。某些肿瘤,如胰腺的癌细胞性导管内乳头状肿瘤(IOPN)是默认的癌细胞性肿瘤,但许多肿瘤,如神经内分泌肿瘤(PanNET),在一个罕见的亚群中可以是癌细胞性肿瘤,通常具有临床意义(如侵袭性行为)。因此,鉴别诊断可以是广泛的,专业知识对于梳理出真正的诊断来指导治疗至关重要。摘要:胰腺嗜瘤细胞肿瘤的鉴别诊断包括:IOPN、腺泡细胞癌、胰腺导管腺癌、PanNET、实体假乳头状肿瘤和一系列其他肿瘤(包括转移性疾病)。由于鉴别诊断很广泛,而诊断活检往往很小,因此描述这些实体通常需要检查临床特征、细胞学和免疫组织化学,在特别困难的病例中,分子发现是有用的。关键信息:临床/放射学表现、细胞学特征、组织学特征、免疫组织学结果和分子异常之间的证实对于在胰腺嗜瘤细胞分化实体的广泛鉴别诊断中描绘特定实体非常有用。
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引用次数: 0
Digital Pathology in Real-Life Conditions for Daily Cytopathological Diagnosis: A Feasibility Study. 数字病理学在现实生活条件下的日常细胞病理学诊断:可行性研究。
IF 1.6 4区 医学 Q3 PATHOLOGY Pub Date : 2025-01-01 Epub Date: 2025-03-28 DOI: 10.1159/000545391
Ranya Soufan, Alicia Larive, Irène Villa, Anne Auperin, Jean-Yves Scoazec, Voichita Suciu

Introduction: Nowadays, there is an increasing adoption of digital pathology for diagnostic purposes.

Aim: Herein we study the feasibility of cytopathological diagnosis by whole-slide imaging (WSI) in daily practice.

Methods: One hundred and ten consecutive non-gynecologic cytopathology cases, originally diagnosed under light microscopy (LM) by two pathologists, were scanned at ×40. Then, cases were diagnosed on WSI, by the same pathologist who originally rendered the conventional diagnosis. The pathologists were blinded to the diagnosis made by LM, but they had access to the same clinical information. The washout period was at least 3 months. WSI diagnoses were compared to the original LM diagnoses, and cases were considered concordant if the two types of diagnosis were identical.

Results: LM and the WSI diagnoses were concordant in 87.3% [95% CI: 79.6; 92.9] of cases. Intra-observer agreement was lowest for thyroid fine-needle aspiration cytology (only 1 case out of 5). After the exclusion of thyroid cases, the concordance rate between WSI and LM was 90.5% [95% CI: 83.2%; 95.3%].

Conclusion: Primary cytological diagnosis can be done using our digital system.

背景:如今,有越来越多的采用数字病理诊断的目的。目的:探讨全切片成像(WSI)在临床应用中的可行性。材料和方法:对110例连续的非妇科细胞病理学病例进行X40扫描,这些病例最初是由两名病理学家在光镜下诊断的。然后,病例在WSI上被诊断,由最初提供常规诊断的同一病理学家。病理学家对光学显微镜做出的诊断是不知情的,但他们可以获得相同的临床信息。洗脱期至少为3个月。将WSI诊断与原始LM诊断进行比较,如果两种类型的诊断相同,则认为病例一致。结果与分析:LM与WSI诊断的一致性为87.3% [95%CI: 79.6;92.9]例。甲状腺细针穿刺细胞学(FNAC)的观察者内一致性最低(5例中只有1例)。排除甲状腺病例后,WSI与LM的一致性率为90.5% [95%CI: 83.2%;95.3%)。结论:我们的数字诊断系统可用于原发性细胞学诊断。
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引用次数: 0
Critical Evaluation of Pap Test Adherence to Routine Screening in Amazonas State, Brazil. 巴西亚马孙州巴氏试验对常规筛查依从性的关键评价。
IF 1.6 4区 医学 Q3 PATHOLOGY Pub Date : 2025-01-01 Epub Date: 2025-01-09 DOI: 10.1159/000543496
Rosana Lima de Oliveira, Emanuelle Cristina de Andrade Valente, João Guilherme de Souza Gadelha, Steven S Witkin, Juliana Yukari K Viscondi, Rita de Cássia Castro de Jesus, Lúcia Marques de Freitas, Ivanete de Lima Sampaio, Edson de Freitas Gomes, Kátia Luz Torres, Maria Cássia Mendes-Corrêa, Adhemar Longatto-Filho, Toni Ricardo Martins

Introduction: This study critically evaluates adherence to Pap test screening practices in cytology-based cervical cancer screening in the state of Amazonas over a 10-year period.

Materials and methods: A retrospective analysis was conducted of the results of cytological screening examinations (Pap test) in Amazonas State from 2013 to 2023. For this purpose, Brazilian public databases Cervical Cancer Information System (SISCOLO) and Cancer Information System (SISCAN) (from the Department of Information and IT of the Unified Health System [DATASUS]) were consulted.

Results: There was a decrease in the number of Pap tests performed during the period from 2019 to 2021, likely related to the COVID-19 pandemic. This was followed by a subsequent increase in the post-pandemic period. Notably, in municipalities with fewer than 10,000 annual Pap examinations there was a decrease in the average number of tests when comparing the years 2016-2018 to 2013-2015, and an even greater decrease during the pandemic.

Conclusions: There is considerable variation in utilization of the cytological Pap test across different municipalities. This lack of uniformity throughout the state likely compromises the capacity to detect early stage cervical intraepithelial lesions.

简介:本研究批判性地评估了10年来亚马逊州基于细胞学的宫颈癌筛查中巴氏试验筛查实践的依从性。材料与方法:回顾性分析2013 - 2023年亚马逊州细胞学筛查检查(巴氏试验)结果。为此,参考了巴西公共数据库宫颈癌信息系统(SISCOLO)和癌症信息系统(SISCAN)(来自统一卫生系统- DATASUS的信息和IT部)。结果:2019年至2021年期间进行的巴氏试验次数有所减少,这可能与COVID-19大流行有关。随后在大流行后时期又有所增加。值得注意的是,与2016-2018年与2013-2015年相比,在每年子宫颈抹片检查少于1万次的城市,平均检查次数有所减少,在大流行期间下降幅度更大。结论:在不同的城市,细胞学巴氏试验的使用有相当大的差异。整个州缺乏一致性可能会影响早期宫颈上皮内病变的检测能力。关键词:宫颈癌筛查,宫颈细胞学,低资源地区细胞学,初级筛查,公共卫生
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引用次数: 0
Assessment of Nucleic Acid Quality in Unstained Cytology Specimens for Cancer Genomic Testing. 肿瘤基因组检测用未染色细胞学标本核酸质量评价。
IF 1.6 4区 医学 Q3 PATHOLOGY Pub Date : 2025-01-01 Epub Date: 2025-03-24 DOI: 10.1159/000545423
Hiroya Niimi, Takafumi Onishi, Shoma Nomura, Aya Kumazaki, Yuto Masaki, Hirokazu Odashima, Yukihiko Osawa, Manabu Hattori

Introduction: The use of cytological specimens in cancer genome medicine has garnered considerable attention, but the long-term quality of nucleic acids from unstained specimens remains unclear. This study aimed to evaluate the quality of nucleic acids extracted from unstained specimens fixed with 95% ethanol or spray fixation over varying durations.

Methods: Two lung cancer cell lines were prepared using the auto-smear method and fixed with 95% ethanol, and spray-fixed specimens were stored for 30 min, 1 day, 3 days, 1 week, 2 weeks, 1 month, 3 months, and 6 months. DNA was extracted using a DNA extraction kit, and quality was assessed using agarose gel electrophoresis and PCR.

Results: Nucleic acids extracted from unstained specimens showed no fragmentation after 6 months of fixation and were amplifiable by PCR, regardless of the fixation method.

Conclusion: Nucleic acids extracted from unstained specimens preserved high quality over 6 months, suggesting that such specimens are suitable for genetic testing. This finding has significant implications for the long-term storage and clinical application of cytological specimens in cancer genome medicine.

细胞学标本在癌症基因组医学中的应用已经引起了相当大的关注,但未染色标本的核酸长期质量仍不清楚。本研究旨在评价用95%乙醇或喷雾固定不同时间的未染色标本提取的核酸的质量。方法:采用自动涂片法制备2株肺癌细胞株,用95%乙醇固定,喷雾固定标本保存30min、1天、3天、1周、2周、1个月、3个月、6个月。采用DNA提取试剂盒提取DNA,琼脂糖凝胶电泳和PCR检测质量。结果:从未染色的标本中提取的核酸在固定6个月后没有碎裂,无论固定方法如何,都可以用PCR扩增。结论:未染色标本提取的核酸在6个月以上保存质量较高,适合用于基因检测。这一发现对肿瘤基因组医学中细胞学标本的长期保存和临床应用具有重要意义。
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引用次数: 0
Message from the International Academy of Cytology. 来自国际细胞学学会的消息。
IF 1.7 4区 医学 Q3 PATHOLOGY Pub Date : 2025-01-01 Epub Date: 2025-07-15 DOI: 10.1159/000547476
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引用次数: 0
Suitability of Different Cytological Preparations for Molecular Analysis of Advanced Non-Small Cell Lung Cancers. 不同细胞学制剂在晚期非小细胞肺癌分子分析中的适用性。
IF 1.6 4区 医学 Q3 PATHOLOGY Pub Date : 2025-01-01 Epub Date: 2025-01-27 DOI: 10.1159/000543739
Elisabetta Maffei, Chiara Ciaparrone, Angela D'Ardia, Valentina Giudice, Francesco Sabbatino, Antonino Giangrasso, Pio Zeppa, Alessandro Caputo

Introduction: Around 85% of non-small cell lung cancers (NSCLCs) are diagnosed at an advanced stage (IIIB to IV), where therapeutic options depend on molecular analysis. However, diagnostic material for molecular testing is often represented by cytological samples which are generally scarce and span a wide range of preparation types. Thus, the primary objective is to efficiently manage materials for molecular profiling. This study aims to evaluate the suitability of different cytological samples to assess morphological and molecular characteristics of advanced NSCLC.

Methods: Sixty-seven cytological samples obtained from patients with advanced NSCLC were utilized. The series encompassed different procedure types (fine-needle aspiration cytology, transbronchial needle aspiration, effusions) processed by cell blocks in 54% (n = 36), direct smears in 33% (n = 22), and liquid-based cytology (LBC) in 13% (n = 9). Cytological diagnoses were routinely performed, and molecular analysis was conducted using next-generation sequencing (NGS) and real-time polymerase chain reaction (RT-PCR) methods.

Results: Adequate quantity and quality of nucleic acids were obtained from all the samples, allowing molecular profiling. Combined NGS and RT-PCR analysis showed wild-type profiles in 62.7% (n = 42) and mutated profiles in 37.3% (n = 25) of the samples. Kirsten Rat Sarcoma Virus (KRAS) mutations were identified in 19.5% (n = 13) of samples, EGFR mutations in 10.4% (n = 7) and v-raf murine sarcoma viral oncogene homolog B (BRAF) mutations in 2.9% (n = 2). Identified chromosomal alterations were v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (ERBB2) duplication in 2.9% (n = 2).

Conclusions: The cytological sample types examined in this study proved to be suitable for molecular testing, in addition to conventional morphologic diagnosis, showing versatility and adaptability to different clinical contexts. Molecular testing on cytological samples is accurate and fast, representing a valid tool for molecular profiling of advanced NSCLC.

导读:约85%的非小细胞肺癌(nsclc)被诊断为晚期(IIIB至IV期),治疗方案取决于分子分析。然而,用于分子检测的诊断材料通常以细胞学样品为代表,这些样品通常是稀缺的,并且跨越了广泛的制备类型。因此,主要目标是有效地管理分子分析的材料。本研究旨在评价不同细胞学样本在晚期非小细胞肺癌形态学和分子特征评估中的适用性。方法:对67例晚期非小细胞肺癌患者的细胞学样本进行分析。该系列包括不同的程序类型(细针吸细胞学,经支气管针吸,积液),细胞块处理占54% (n=36),直接涂片处理占33% (n=22),液体细胞学(LBC)处理占13% (n=9)。常规进行细胞学诊断,并采用NGS和RT-PCR方法进行分子分析。结果:从所有样品中获得足够数量和质量的核酸,可以进行分子分析。下一代测序(NGS)和实时聚合酶链反应(RT-PCR)联合分析显示,野生型基因占62.7% (n=42),突变型基因占37.3% (n=25)。Kirsten大鼠肉瘤病毒(KRAS)突变占19.5% (n=13),表皮生长因子受体(EGFR)突变占10.4% (n=7), v-raf鼠肉瘤病毒癌基因同源物B (BRAF)突变占2.9% (n=2)。鉴定的染色体改变为v- erbb -b2禽红母细胞白血病病毒癌基因同源物2 (ERBB2)重复,占2.9% (n=2)。结论:除了常规的形态学诊断外,本研究中检查的细胞学样本类型也适用于分子检测,显示出多功能性和对不同临床情况的适应性。细胞学样品的分子检测准确、快速,是晚期非小细胞肺癌分子谱分析的有效工具。
{"title":"Suitability of Different Cytological Preparations for Molecular Analysis of Advanced Non-Small Cell Lung Cancers.","authors":"Elisabetta Maffei, Chiara Ciaparrone, Angela D'Ardia, Valentina Giudice, Francesco Sabbatino, Antonino Giangrasso, Pio Zeppa, Alessandro Caputo","doi":"10.1159/000543739","DOIUrl":"10.1159/000543739","url":null,"abstract":"<p><strong>Introduction: </strong>Around 85% of non-small cell lung cancers (NSCLCs) are diagnosed at an advanced stage (IIIB to IV), where therapeutic options depend on molecular analysis. However, diagnostic material for molecular testing is often represented by cytological samples which are generally scarce and span a wide range of preparation types. Thus, the primary objective is to efficiently manage materials for molecular profiling. This study aims to evaluate the suitability of different cytological samples to assess morphological and molecular characteristics of advanced NSCLC.</p><p><strong>Methods: </strong>Sixty-seven cytological samples obtained from patients with advanced NSCLC were utilized. The series encompassed different procedure types (fine-needle aspiration cytology, transbronchial needle aspiration, effusions) processed by cell blocks in 54% (n = 36), direct smears in 33% (n = 22), and liquid-based cytology (LBC) in 13% (n = 9). Cytological diagnoses were routinely performed, and molecular analysis was conducted using next-generation sequencing (NGS) and real-time polymerase chain reaction (RT-PCR) methods.</p><p><strong>Results: </strong>Adequate quantity and quality of nucleic acids were obtained from all the samples, allowing molecular profiling. Combined NGS and RT-PCR analysis showed wild-type profiles in 62.7% (n = 42) and mutated profiles in 37.3% (n = 25) of the samples. Kirsten Rat Sarcoma Virus (KRAS) mutations were identified in 19.5% (n = 13) of samples, EGFR mutations in 10.4% (n = 7) and v-raf murine sarcoma viral oncogene homolog B (BRAF) mutations in 2.9% (n = 2). Identified chromosomal alterations were v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (ERBB2) duplication in 2.9% (n = 2).</p><p><strong>Conclusions: </strong>The cytological sample types examined in this study proved to be suitable for molecular testing, in addition to conventional morphologic diagnosis, showing versatility and adaptability to different clinical contexts. Molecular testing on cytological samples is accurate and fast, representing a valid tool for molecular profiling of advanced NSCLC.</p>","PeriodicalId":6959,"journal":{"name":"Acta Cytologica","volume":" ","pages":"191-201"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143051303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Oncocytic Tumors in the Thyroid: A Tri-Focal Review - Integrated Cytopathological, Pathological, and Molecular Perspectives. 甲状腺嗜瘤性肿瘤:三焦点综述-综合细胞病理学,病理学和分子观点。
IF 1.7 4区 医学 Q3 PATHOLOGY Pub Date : 2025-01-01 Epub Date: 2025-02-14 DOI: 10.1159/000544739
Zubair Baloch, Maria A Gubbiotti, Sule Canberk, Zubair W Baloch

Background: The thyroid gland is a treasure trove of pathology ranging from the benign to the overtly malignant. Both neoplastic and nonneoplastic thyroid lesions can exhibit oncocytic change. Here we present an overview of cytologic and histopathologic findings encountered in these oncocytic neoplasms with a focus on the molecular aspects that drive their tumorigenesis.

Summary: Oncocytic change is unique to a subset of thyroid lesions ranging from nonneoplastic nodular hyperplasia to high-grade malignancy. It can also be encountered in non-follicular-derived neoplasms as well as in the adjacent parathyroid glands. At the genetic level, these lesions demonstrate a different genetic signature from classic follicular-derived lesions, often involving alterations of mitochondrial genes.

Key messages: Oncocytic change can be seen in nonneoplastic and neoplastic thyroid pathology. Rarely, oncocytic change can be seen in medullary thyroid carcinoma and certain subtypes of papillary thyroid carcinoma as well as the parathyroid gland. Oncocytic neoplasms of the thyroid harbor molecular alterations often involving mitochondrial genes, which is distinct from other thyroid neoplasia.

背景:甲状腺是一个病理宝库,从良性到明显的恶性。肿瘤性和非肿瘤性甲状腺病变均可表现为嗜瘤细胞改变。在这里,我们提出了细胞学和组织病理学发现的概述,在这些嗜酸细胞肿瘤遇到的重点是分子方面,推动其肿瘤发生。肿瘤细胞改变是甲状腺病变的一个亚群所特有的,范围从非肿瘤性结节增生到高级别恶性肿瘤。它也可以在非滤泡源性肿瘤以及邻近的甲状旁腺中遇到。在遗传水平上,这些病变表现出与经典卵泡源性病变不同的遗传特征,通常涉及线粒体基因的改变。
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引用次数: 0
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Acta Cytologica
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