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Comparative analysis of the World Health Organization Reporting System for Head and Neck Cytopathology and the Milan System for Reporting Salivary Gland Cytopathology 世界卫生组织头颈部细胞病理学报告系统与米兰唾液腺细胞病理学报告系统的比较分析
IF 3.2 3区 医学 Q3 ONCOLOGY Pub Date : 2025-08-25 DOI: 10.1002/cncy.70041
Adam Kowalewski MD, PhD, MIAC, Jędrzej Borowczak MD, PhD, Olivier Choussy MD, Maria Lesnik MD, Nathalie Badois MD, Jerzy Klijanienko MD, PhD, MIAC

Background

A comparative analysis of the International Academy of Cytology–International Agency for Research on Cancer–World Health Organization Reporting System for Head and Neck Cytopathology (WHO) and the Milan System for Reporting Salivary Gland Cytopathology (MSRSGC) was performed.

Methods

A total of 2218 salivary gland fine-needle aspiration samples collected at the Institut Curie, Paris (1954–2022) were evaluated, with 1356 having histological follow-up. Samples were classified according to the MSRSGC (nondiagnostic [ND], nonneoplastic [NN], atypia of undetermined significance [AUS], benign neoplasm [BN], salivary gland neoplasm of uncertain malignant potential [SUMP], suspicious for malignancy [SM], and malignant [M]) and the WHO system (insufficient/inadequate/nondiagnostic, benign, atypical, neoplasm of uncertain malignant potential [NUMP], suspicious for malignancy [SM], and malignant [M]). The risk of malignancy (ROM) was calculated for each category, and diagnostic performance metrics were assessed.

Results

In the MSRSGC, the ROM was ND, 50% (n = 2); NN, 16.8% (n = 149); AUS (no cases); BN, 4.3% (n = 514); SUMP, 50% (n = 2); SM, 56.1% (n = 66); and M, 98.2% (n = 623). In the WHO system, the ROM was insufficient/inadequate/nondiagnostic, 50% (n = 2); benign, 7.1% (n = 663); atypical (no cases); NUMP, 50% (n = 2); SM, 56.1% (n = 66); and M, 98.2% (n = 623). The WHO’s “benign” category, which combines NN and BN, balanced the NN’s higher ROM (16.8%) and BN’s lower ROM (4.3%) into 7.1%. Excluding the ND and SUMP/NUMP categories, both systems demonstrated high diagnostic performance: sensitivity, 93.3%; specificity, 93.9%; positive predictive value, 94.2%; and negative predictive value, 92.9%.

Conclusions

Both systems effectively identify malignancy. The WHO system’s merger of NN and BN into the benign category streamlines reporting and reduces variability, although it may mask clinically significant differences between nonneoplastic and benign neoplastic lesions.

背景对国际细胞学学会-国际癌症研究机构-世界卫生组织头颈部细胞病理学报告系统(WHO)和米兰唾液腺细胞病理学报告系统(MSRSGC)进行比较分析。方法对1954-2022年在巴黎居里研究所采集的2218例涎腺细针抽吸标本进行评价,其中1356例进行组织学随访。根据MSRSGC(非诊断性[ND]、非肿瘤性[NN]、意义不确定的异型性[AUS]、良性肿瘤[BN]、恶性潜能不确定的唾液腺肿瘤[SUMP]、可疑恶性肿瘤[SM]、恶性肿瘤[M])和WHO系统(不充分/不充分/非诊断性、良性、非典型、恶性潜能不确定的肿瘤[NUMP]、可疑恶性肿瘤[SM]、恶性肿瘤[M])对样本进行分类。计算每个类别的恶性肿瘤风险(ROM),并评估诊断性能指标。结果在MSRSGC中,ROM为ND, 50% (n = 2);神经网络占16.8% (n = 149);AUS(无病例);BN, 4.3% (n = 514);SUMP, 50% (n = 2);SM 56.1% (n = 66);M为98.2% (n = 623)。在WHO系统中,ROM不足/不充分/非诊断性,50% (n = 2);良性,7.1% (n = 663);非典型(无病例);NUMP, 50% (n = 2);SM 56.1% (n = 66);M为98.2% (n = 623)。世界卫生组织的“良性”类别结合了神经网络和BN,将神经网络的较高ROM(16.8%)和BN的较低ROM(4.3%)平衡为7.1%。排除ND和SUMP/NUMP类别,两种系统均表现出较高的诊断性能:敏感性为93.3%;特异性,93.9%;阳性预测值为94.2%;阴性预测值为92.9%。结论两种系统均能有效识别恶性肿瘤。WHO系统将NN和BN合并为良性类别简化了报告并减少了可变性,尽管它可能掩盖了非肿瘤性和良性肿瘤病变之间的临床显着差异。
{"title":"Comparative analysis of the World Health Organization Reporting System for Head and Neck Cytopathology and the Milan System for Reporting Salivary Gland Cytopathology","authors":"Adam Kowalewski MD, PhD, MIAC,&nbsp;Jędrzej Borowczak MD, PhD,&nbsp;Olivier Choussy MD,&nbsp;Maria Lesnik MD,&nbsp;Nathalie Badois MD,&nbsp;Jerzy Klijanienko MD, PhD, MIAC","doi":"10.1002/cncy.70041","DOIUrl":"10.1002/cncy.70041","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>A comparative analysis of the International Academy of Cytology–International Agency for Research on Cancer–World Health Organization Reporting System for Head and Neck Cytopathology (WHO) and the Milan System for Reporting Salivary Gland Cytopathology (MSRSGC) was performed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A total of 2218 salivary gland fine-needle aspiration samples collected at the Institut Curie, Paris (1954–2022) were evaluated, with 1356 having histological follow-up. Samples were classified according to the MSRSGC (nondiagnostic [ND], nonneoplastic [NN], atypia of undetermined significance [AUS], benign neoplasm [BN], salivary gland neoplasm of uncertain malignant potential [SUMP], suspicious for malignancy [SM], and malignant [M]) and the WHO system (insufficient/inadequate/nondiagnostic, benign, atypical, neoplasm of uncertain malignant potential [NUMP], suspicious for malignancy [SM], and malignant [M]). The risk of malignancy (ROM) was calculated for each category, and diagnostic performance metrics were assessed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In the MSRSGC, the ROM was ND, 50% (<i>n</i> = 2); NN, 16.8% (<i>n</i> = 149); AUS (no cases); BN, 4.3% (<i>n</i> = 514); SUMP, 50% (<i>n</i> = 2); SM, 56.1% (<i>n</i> = 66); and M, 98.2% (<i>n</i> = 623). In the WHO system, the ROM was insufficient/inadequate/nondiagnostic, 50% (<i>n</i> = 2); benign, 7.1% (<i>n</i> = 663); atypical (no cases); NUMP, 50% (<i>n</i> = 2); SM, 56.1% (<i>n</i> = 66); and M, 98.2% (<i>n</i> = 623). The WHO’s “benign” category, which combines NN and BN, balanced the NN’s higher ROM (16.8%) and BN’s lower ROM (4.3%) into 7.1%. Excluding the ND and SUMP/NUMP categories, both systems demonstrated high diagnostic performance: sensitivity, 93.3%; specificity, 93.9%; positive predictive value, 94.2%; and negative predictive value, 92.9%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Both systems effectively identify malignancy. The WHO system’s merger of NN and BN into the benign category streamlines reporting and reduces variability, although it may mask clinically significant differences between nonneoplastic and benign neoplastic lesions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"133 9","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://acsjournals.onlinelibrary.wiley.com/doi/epdf/10.1002/cncy.70041","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144897583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The utility of next-generation sequencing in metastatic prostate cancer FNA biopsies 新一代测序在转移性前列腺癌FNA活检中的应用
IF 3.2 3区 医学 Q3 ONCOLOGY Pub Date : 2025-08-23 DOI: 10.1002/cncy.70038
Deepika Sirohi MD, Chien-Kuang Cornelia Ding MD, PhD, Bradley A. Stohr MD, PhD, Ronald Balassanian MD, Poonam Vohra MD, Rahul Aggarwal MD, Emily Chan MD, PhD, Nancy Y. Greenland MD, PhD

Background

Current American Society of Clinical Oncology guidelines state that patients with metastatic prostate cancer (MPC) should undergo germline and somatic DNA sequencing. The authors examined the utility of next-generation sequencing (NGS) on fine-needle aspiration (FNA) biopsies in which NGS was performed on cell block (CB) and/or smears.

Methods

A retrospective review was performed of cytology cases with diagnosis of MPC either before and/or after NGS on FNA material. Clinical and NGS data were obtained from the medical record. Androgen receptor, NKX3.1, INSM1, synaptophysin, chromogranin, Rb, PTEN, and Ki67 immunohistochemical stains were performed on CB if not originally done.

Results

Slides and NGS data were available for 46 MPC FNA biopsies from 45 patients from 2015 to 2024. Metastatic sites included 20 lymph node, 12 liver, five lung, four soft tissue, two pleura, two bone, and one adrenal gland. Ten patients (22%) had change or potential change in therapy based on NGS results. For one patient with poorly differentiated carcinoma previously thought to be urothelial, a TMPRSS2:ERG fusion confirmed prostatic origin. NGS confirmed lung origin for one patient diagnosed initially as metastatic prostatic adenocarcinoma. For one patient, NGS demonstrated TP53 and RB1 mutations, supporting transformation to high-grade neuroendocrine carcinoma. Change or potential change in therapy was planned for two patients with CDK12 mutations, one with IDH1 mutation, three with BRCA2 mutations, and one with PTEN and TP53 mutations.

Conclusions

NGS on cytology material showed diagnostic and therapeutic utility in a subset of patients, with 10 of 46 patients (22%) having a change or potential in therapy based on NGS results.

当前美国临床肿瘤学会指南指出,转移性前列腺癌(MPC)患者应接受种系和体细胞DNA测序。作者研究了下一代测序(NGS)在细针穿刺(FNA)活检中的应用,其中NGS在细胞块(CB)和/或涂片上进行。方法对FNA材料NGS前后诊断为MPC的细胞学病例进行回顾性分析。临床和NGS数据来源于病历。如果原未对CB进行雄激素受体、NKX3.1、INSM1、synaptophysin、chromogranin、Rb、PTEN和Ki67免疫组化染色。结果2015年至2024年,45例患者的46例MPC FNA活检可获得切片和NGS数据。转移部位包括20个淋巴结、12个肝脏、5个肺、4个软组织、2个胸膜、2个骨和1个肾上腺。10名患者(22%)根据NGS结果改变或可能改变治疗。对于一名先前被认为是尿路上皮的低分化癌患者,TMPRSS2:ERG融合证实了前列腺起源。NGS证实了一名最初诊断为转移性前列腺腺癌的患者的肺部起源。一名患者的NGS显示TP53和RB1突变,支持向高级神经内分泌癌的转化。2例CDK12突变患者,1例IDH1突变患者,3例BRCA2突变患者,1例PTEN和TP53突变患者计划改变或潜在改变治疗方案。结论:细胞学材料的NGS在一部分患者中显示出诊断和治疗的效用,46例患者中有10例(22%)根据NGS结果改变或可能改变治疗。
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引用次数: 0
Application of the Milan and IAC–IARC–WHO Systems in diagnosing soft tissue and bone tumors of the salivary glands: The Institut Curie experience 应用Milan和IAC-IARC-WHO系统诊断唾液腺软组织和骨肿瘤:居里研究所的经验
IF 3.2 3区 医学 Q3 ONCOLOGY Pub Date : 2025-08-20 DOI: 10.1002/cncy.70040
Adam Kowalewski MD, PhD, MIAC, Jędrzej Borowczak MD, PhD, Hervé J. Brisse MD, PhD, Olivier Choussy MD, Jerzy Klijanienko MD, PhD, MIAC

Background

Soft tissue and bone tumors of the salivary gland were compared using classic 4-tier, Milan System for Reporting Salivary Gland Cytopathology (MSRSGC), and the International Academy of Cytology-International Agency for Research on Cancer-World Health Organization (IAC–IARC–WHO) Reporting System for Soft Tissue Cytopathology.

Methods

The authors retrospectively analyzed 2219 salivary gland fine-needle aspiration (FNA) samples collected at the Institut Curie in Paris between 1954 and 2022. A total of 86 cases (3.9%) were identified as soft tissue and bone tumors, with histological follow-up in 63 cases (73%). Cytology was classified according to the classic European 4-tier system, the MSRSGC, and the IAC–IARC–WHO System.

Results

According to the MSRSGC, eight cases were classified as nonneoplastic, 30 as benign, one as salivary gland neoplasm of uncertain malignant potential, five as suspicious for malignancy, and 42 as malignant. Benign or malignant nature was accurately assessed in 78 cases (90.7%), with exact histologic-cytologic concordance in 51 cases (59.3%). FNA correctly identified 42 of 44 malignant tumors (95.5%), with exact diagnostic matches in 30 cases (68.2%). The MSRSGC achieved 88.3% overall accuracy, 93.6% sensitivity, and 82.7% specificity. Risk of malignancy (ROM) was comparable for malignant tumors across the classic European system, the MSRSGC, and the IAC–IARC–WHO System, with minor discrepancies observed in benign and indeterminate categories. No cases were assigned as nondiagnostic, atypia of undetermined significance, atypical.

Conclusions

Despite their rarity, soft tissue and bone tumors of the salivary gland can be effectively diagnosed using the MSRSGC, with a high accuracy achieved for malignant cases. Minor discrepancies in ROMs were observed between specific categories of the classic European system, the MSRSGC, and the IAC–IARC–WHO System.

研究背景:采用经典的4级系统,即米兰唾液腺细胞病理学报告系统(MSRSGC)和国际细胞学学会-国际癌症研究机构-世界卫生组织(IAC-IARC-WHO)软组织细胞病理学报告系统对唾液腺软组织和骨肿瘤进行比较。方法回顾性分析1954年至2022年在巴黎居里研究所采集的2219例涎腺细针抽吸(FNA)样本。软组织及骨肿瘤86例(3.9%),经组织学随访63例(73%)。细胞学根据经典的欧洲4层系统、MSRSGC和IAC-IARC-WHO系统进行分类。结果根据MSRSGC,非肿瘤性8例,良性30例,恶性潜能不确定的唾液腺肿瘤1例,可疑恶性5例,恶性42例。良恶性78例(90.7%),组织学-细胞学诊断51例(59.3%)。44例恶性肿瘤中,FNA正确诊断42例(95.5%),准确诊断匹配30例(68.2%)。MSRSGC的总体准确度为88.3%,灵敏度为93.6%,特异性为82.7%。恶性肿瘤的风险(ROM)在经典的欧洲系统、MSRSGC和IAC-IARC-WHO系统中具有可比性,在良性和不确定类别中观察到轻微差异。没有病例被指定为非诊断性,不确定意义的非典型,非典型。结论涎腺软组织和骨肿瘤虽罕见,但MSRSGC能有效诊断,对恶性肿瘤的诊断准确率较高。在经典欧洲系统、MSRSGC和IAC-IARC-WHO系统的特定类别之间观察到rom的微小差异。
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引用次数: 0
Decoding the mysterious surge in early-onset colorectal cancers 破解早发性结直肠癌的神秘激增
IF 3.2 3区 医学 Q3 ONCOLOGY Pub Date : 2025-08-05 DOI: 10.1002/cncy.70032
Bryn Nelson PhD, William Faquin MD, PhD
<p>The change began slowly. In the 1990s, colorectal cancer rates started creeping up by a few percentage points every year in adults who often were told they were too young to have cancer. At the same time, the incidence decreased markedly in those over the age of 55 years. Researchers noticed the diverging trends but were unable to determine why they continued year after year.</p><p>By 2019, epidemiological data revealed that the incidence of early-onset colorectal cancer had risen by an alarming 63% in less than 3 decades.<span><sup>1</sup></span> Although the mystery behind its increase remains, several large research projects are digging into a wide range of modifiable and nonmodifiable risk factors to determine what may have changed in the 1950s or 1960s to cause the persistent and worrisome uptick.</p><p>“The short answer is we don’t know what’s causing it,” says Robin Mendelsohn, MD, clinical director of the Gastroenterology, Hepatology, and Nutrition Service at Memorial Sloan Kettering Cancer Center in New York. “Obviously we want to figure this out, but we also want people to be taken care of promptly because the earlier cancer’s detected, the better the prognosis and treatment.”</p><p>In March 2018, Memorial Sloan Kettering opened its Center for Young Onset Colorectal Cancer to focus on patients who are diagnosed before they turn 50 years old. In January 2021, because of growing demand, the center was expanded to include all gastrointestinal cancers. “We’ve unfortunately been busy,” says Dr Mendelsohn, codirector of what is now called the Center for Young Onset Colorectal and Gastrointestinal Cancer. Although the number of early-onset cancers is highest in the 40- to 49-year-old age group, she notes, the biggest increase in incidence has been in the 20- to 29-year-old group.</p><p>To date, the center has seen more than 5500 patients, including nearly 3800 with colorectal cancer. Beyond providing coordinated care to patients who often have far different needs than older patients, Dr Mendelsohn says that the center has become a significant source of studies into why their risk has increased. All patients receive a lengthy questionnaire that asks about their history of medications, exposures, and habits to help to answer what might have shifted over the past 70 years.</p><p>Similar detective work has been launched by the new Colorectal Cancer Pooling Project (C2P2), which is also aiming to understand the potential role of a long list of modifiable and non-modifiable risk factors. Peter Campbell, PhD, a project leader and a professor of epidemiology and population health at Albert Einstein College of Medicine in New York, says that the logical starting point was a list of 12 known risk factors linked to regular-onset colorectal cancer, including physical inactivity; cigarette smoking; alcohol use; antibiotic use; eating red or processed meat; and eating low levels of fiber, fruits and vegetables, or calcium.</p><p>In puzzling over what exp
变化开始得很慢。在20世纪90年代,结直肠癌的发病率开始以每年几个百分点的速度缓慢上升,这些成年人经常被告知他们还太年轻,不会患癌症。与此同时,55岁以上人群的发病率明显下降。研究人员注意到这种分化趋势,但无法确定为什么这种趋势年复一年地持续下去。截至2019年,流行病学数据显示,早发性结直肠癌的发病率在不到30年的时间里上升了令人震惊的63%尽管其增长背后的奥秘仍然存在,但几个大型研究项目正在深入研究范围广泛的可改变和不可改变的风险因素,以确定在20世纪50年代或60年代可能发生的变化,导致持续和令人担忧的上升。纽约纪念斯隆-凯特琳癌症中心胃肠病学、肝病学和营养服务临床主任罗宾·门德尔松医学博士说:“简单地说,我们不知道是什么引起的。”“显然,我们想弄清楚这个问题,但我们也希望人们得到及时的照顾,因为越早发现癌症,预后和治疗就越好。”2018年3月,纪念斯隆凯特琳开设了年轻发病结直肠癌中心,专注于50岁之前被诊断出的患者。2021年1月,由于需求不断增长,该中心扩大到包括所有胃肠道癌症。“不幸的是,我们一直很忙,”门德尔松博士说,他是现在被称为年轻发病结肠直肠癌和胃肠道癌症中心的联合主任。她指出,尽管早发性癌症的数量在40至49岁年龄组中最高,但发病率增长最快的是20至29岁年龄组。迄今为止,该中心已经接待了5500多名患者,其中包括近3800名结直肠癌患者。门德尔松博士说,除了为那些往往与老年患者有着截然不同需求的患者提供协调一致的护理外,该中心还成为研究他们患病风险增加原因的重要来源。所有患者都会收到一份冗长的问卷,询问他们的药物史、暴露和习惯,以帮助回答过去70年来可能发生的变化。新的结直肠癌汇集项目(C2P2)也启动了类似的检测工作,该项目也旨在了解一长串可改变和不可改变的风险因素的潜在作用。纽约阿尔伯特·爱因斯坦医学院(Albert Einstein College of Medicine)的流行病学和人口健康教授、项目负责人彼得·坎贝尔(Peter Campbell)博士说,合乎逻辑的起点是列出12个已知与常规结直肠癌相关的风险因素,包括缺乏运动;吸烟;使用酒精;抗生素的使用;食用红色或加工过的肉类;少吃纤维,水果和蔬菜,少吃钙。随着时间的推移,哪些暴露或风险因素发生了变化,许多研究人员将注意力集中在肥胖率的上升上。尽管一些数据表明肥胖可能起到一定作用,但这种联系被证明是微弱的。门德尔松博士说,在她的早发性癌症中心,普通病人更有可能超重或肥胖。即便如此,她指出,这组患者超重或肥胖的可能性仍低于全国非癌症患者。她说:“虽然他们中的一些人可能肥胖,这可能是原因之一,但这绝对不是全部的答案。”吸烟也是如此,因为吸烟率总体上有所下降,而且该中心的病人比一般人群更不可能吸烟。然而,该中心的患者比一般人群更容易患糖尿病。鉴于已有研究指出糖尿病是一个独立的危险因素,门德尔松博士和她的同事们正在探索代谢性疾病是否可能是另一个因素。随着人们年龄的增长,他们的肠道微生物群多样性通常会随着时间的推移而下降,一些研究表明,肠道微生物群多样性的降低与健康状况的下降有关。门德尔松博士的研究还表明,早发性结直肠癌患者的微生物群多样性水平低于平均发病癌症患者。即便如此,她说区分因果关系可能会很困难。微生物组可以通过抗生素和饮食等环境暴露而改变,但即便如此,她说,大多数人可能很难回忆起他们使用抗生素的历史,以及他们在青春期和青年期吃了什么。尽管有这些局限性,门德尔松博士还是希望,饮食、药物使用或其他暴露因素之间的关联,能够从该中心数据集捕获的患者报告的回忆中发现。 坎贝尔博士说,抗生素的使用最初在他的研究小组调查的早期发病风险因素清单上也“非常高”,但他也同意,事实证明这很难研究。到目前为止,一些研究将结直肠癌的总体风险与过去使用抗生素联系起来,但尚未发现与早发性癌症的具体联系。“这是个好主意,生物学和时机都很合适。坎贝尔博士说:“确实有很多事情表明抗生素的使用是其中的一部分,但到目前为止,还没有数据支持这一点。”将包括19,000名确诊为结肠癌或直肠癌的患者,其中约1500人在50岁之前被诊断出患有结肠癌或直肠癌——研究人群比迄今为止大多数前瞻性研究的人数大一个数量级。坎贝尔博士说:“这是一项关于类固醇的原理验证研究:这是一项大型研究。”鉴于到目前为止还没有明确的答案,坎贝尔博士说,这个项目的庞大规模意味着它的结果可以让研究人员处于一个“双赢的位置”,无论他们提出什么建议。他表示:“如果结果非常平淡无奇,那实际上是非常令人鼓舞的。”早期癌症风险与肥胖、饮食或其他正在研究的变量之间缺乏明显的信号,这可能会指向新的方向。“这可能与环境暴露有关。它可能与感染源和过程有关。这可能与健康和空气污染等方面的社会决定因素有关,”他说。“这就是这种发现的美妙之处:无论你得到什么,你都算是赢了,因为我们以前不知道。”如果一切顺利,资金到位,该项目第二阶段的规模可能会增加一倍以上。坎贝尔博士说:“我们的目标是真正建立一个研究基础设施,把数据放在一起,使其协调一致,使其可供科学界使用,并支持合作研究。”重要的是,这项工作可以为其他研究人员提供重要的新资源。他说:“我们无法独自完成所有这些工作。”“所以我们希望与他人合作,也探索他们的假设。”坎贝尔博士说,一个新兴的假设是,早发性癌症可能与加速的生物衰老有关。他说:“并不是说事情不同了,只是事情发生得更快了。”虽然这些暴露可能不一定是新的,换句话说,它们的数量可能要大得多。“所以我们正在加快这个过程,”他说。坎贝尔博士说,到目前为止,总体观点与流行病学和分子数据相符,这些数据表明,缺乏已知遗传易感性的年轻患者的结直肠肿瘤与老年患者的癌症没有显著差异。他说:“我认为这只是年轻人群中发生的许多不好的事情的积累,而不是自1960年以来影响结肠上皮组织的新暴露。”即便如此,他和门德尔松博士都认为,患者可能有不同的暴露易感性组合,这些组合汇聚在一起,导致早发性疾病。最后,门德尔松博士说,“二次打击假说”可能提供了最有可能的解释:对于一个更容易受影响的人来说,暴露于危险因素的第二次打击可能会引发肿瘤的形成。无论是哪种组合,她说,一个重要的信息是,成年人患结直肠癌的年龄都不小。最近改变的建议现在建议成年人应该在45岁时开始结肠镜检查。虽然进一步降低这个年龄界限在逻辑上可能不可行,但对最相关风险因素的新见解可以帮助医生采取更有针对性的预防方法。“我们确实知道,筛查肯定会降低死亡率。因此,我们只需要弄清楚如何有效地筛查年轻人,”门德尔松博士说。
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引用次数: 0
Diagnostic challenges in urinary cytology: Practical insights from The Paris System for Reporting Urinary Cytology 诊断泌尿细胞学的挑战:从巴黎系统报告泌尿细胞学的实际见解
IF 3.2 3区 医学 Q3 ONCOLOGY Pub Date : 2025-08-05 DOI: 10.1002/cncy.70033
Derek B. Allison MD, Christopher J. VandenBussche MD, PhD

Urinary cytology is an important tool for diagnosing high-grade urothelial carcinoma (HGUC) and plays a vital role in monitoring for disease recurrence. However, its diagnostic utility is often complicated by interpretive challenges, particularly when degenerative artifacts, sparse cellularity, or reactive atypia obscure key cytologic features. The Paris System for Reporting Urinary Cytology has significantly enhanced diagnostic reproducibility by establishing standardized criteria for the diagnosis of HGUC, but misclassification remains a risk, especially when evaluating subtle atypia, tissue fragments, or confounding factors like degenerative changes. One of the most frequent pitfalls in urinary cytology is differentiating HGUC from benign mimics, particularly in specimens affected by prolonged urine exposure, inflammation, or instrumentation artifacts. Similarly, the classification of atypical urothelial cells presents a diagnostic gray zone because its predictive value varies widely, depending on clinical context. Low-grade urothelial neoplasms further complicate risk stratification because these tumors infrequently exfoliate in voided specimens and can appear indistinguishable from reactive urothelial cells in these samples. Consequently, the goal of The Paris System for Reporting Urinary Cytology is to focus on the detection of HGUC to preserve the specificity and the positive predictive value of urinary cytology. Advancements in molecular profiling and artificial intelligence-driven cytopathology promise enhanced reproducibility and risk stratification, refining the role of urinary cytology in precision medicine. However, the success of urinary cytology remains rooted in a balanced approach, integrating morphologic expertise, molecular insights, and clinical data. By applying these essential practices, cytopathologists can improve diagnostic accuracy, reduce misclassification, and optimize patient management.

尿细胞学检查是诊断高级别尿路上皮癌(HGUC)的重要工具,在监测疾病复发方面发挥着重要作用。然而,其诊断功能往往因解释上的挑战而变得复杂,特别是当退行性伪影、细胞稀疏或反应性非典型性模糊了关键的细胞学特征时。巴黎尿细胞学报告系统通过建立HGUC诊断的标准化标准,显著提高了诊断的可重复性,但错误分类仍然存在风险,特别是在评估微妙的非典型性、组织碎片或诸如退行性变化等混杂因素时。泌尿细胞学中最常见的陷阱之一是区分HGUC与良性模拟物,特别是在受长期尿液暴露、炎症或仪器假影影响的标本中。同样,非典型尿路上皮细胞的分类呈现出诊断的灰色地带,因为它的预测价值差异很大,取决于临床情况。低级别尿路上皮肿瘤进一步使风险分层复杂化,因为这些肿瘤在空泡标本中很少脱落,并且在这些样本中与反应性尿路上皮细胞难以区分。因此,巴黎泌尿细胞学报告系统的目标是关注HGUC的检测,以保持泌尿细胞学的特异性和阳性预测价值。分子分析和人工智能驱动的细胞病理学的进步有望提高可重复性和风险分层,完善尿细胞学在精准医学中的作用。然而,尿细胞学的成功仍然植根于平衡的方法,整合形态学专业知识,分子见解和临床数据。通过应用这些基本实践,细胞病理学家可以提高诊断准确性,减少错误分类,并优化患者管理。
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引用次数: 0
Cytology-Radiology Correlation Series: Thyroid cytopathology 细胞学-放射学相关系列:甲状腺细胞病理学
IF 3.2 3区 医学 Q3 ONCOLOGY Pub Date : 2025-07-23 DOI: 10.1002/cncy.70028
Rachel Jug MB, BCh, BAO, Wen-Chi Foo MD, Benjamin Wildman-Tobriner MD, Xiaoyin “Sara” Jiang MD

Thyroid ultrasound is typically the first step in the workup of thyroid nodules. Ultrasonographic features of thyroid nodules can be used to evaluate their risk of malignancy using risk stratification systems to determine whether a nodule is suspicious enough to warrant a more invasive fine-needle aspiration (FNA) for further evaluation. For this review, the authors described and compared two major risk stratification systems, the American Thyroid Association classification system and the American College of Radiology Thyroid Imaging Reporting and Data System, and explored corresponding ultrasound and cytology findings in the thyroid for commonly encountered entities in cytopathology practice.

甲状腺超声检查通常是检查甲状腺结节的第一步。甲状腺结节的超声特征可用于评估其恶性肿瘤的风险,使用风险分层系统来确定结节是否足够可疑,需要进行更具侵入性的细针穿刺(FNA)进一步评估。在这篇综述中,作者描述并比较了两种主要的风险分层系统,即美国甲状腺协会分类系统和美国放射学院甲状腺成像报告和数据系统,并探讨了在细胞病理学实践中常见的甲状腺实体的相应超声和细胞学发现。
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引用次数: 0
Hepatocyte nuclear factor 4 alpha immunocytochemistry: A useful marker for detecting endocervical glandular lesions in alcohol-fixed smears 肝细胞核因子4免疫细胞化学:一种检测宫颈内腺体病变的有用标记物
IF 3.2 3区 医学 Q3 ONCOLOGY Pub Date : 2025-07-21 DOI: 10.1002/cncy.70034
Yuri Noda DDS, PhD, Kaori Sando CT, Masato Kita MD, PhD, Koji Tsuta MD, PhD

Background

Hepatocyte nuclear factor 4 alpha (HNF4α) contributes to tumorigenesis and cancer progression. This study evaluated the diagnostic potential of HNF4α for detecting endocervical glandular lesions (EGLs), including endocervical adenocarcinomas (ECAs), adenocarcinomas in situ (AIS), and lobular endocervical glandular hyperplasias (LEGH) using alcohol-fixed cytological smears.

Methods

HNF4α expression was immunocytochemically assessed in alcohol-fixed smears and paired formalin-fixed paraffin-embedded tissue specimens obtained from 14 patients with histologically confirmed EGLs: eight papillomavirus-associated (HPVA) ECAs, one non-NHPVA ECA, two HPVA AIS, and three patients with LEGHs. Three cases of squamous cell carcinomas (SCCs) and two cases of non-neoplastic lesions were also analyzed as non-EGL controls. HNF4α positivity was defined as nuclear staining in one or more cell(s)/slide, regardless of intensity.

Results

Histologically confirmed EGL cases were cytologically diagnosed as four adenocarcinomas, eight atypical glandular cells, one misclassified atypical squamous cells of undetermined significance, and one misclassified SCC, with a sensitivity of 85.7% and specificity of 100%. Strong and diffuse nuclear HNF4α expression was observed in atypical glands in both smears and tissue specimens, whereas non-neoplastic glands and non-neoplastic/neoplastic squamous epithelium were HNF4α-negative. HNF4α expression showed 73.7% concordance between tissue and smear samples. Notably, HNF4α immunocytochemistry demonstrated 100% sensitivity and specificity for detecting EGLs, outperforming cytomorphological or immunohistochemical diagnosis (sensitivity, 71.4%; specificity, 100%).

Conclusions

HNF4α is a reliable diagnostic marker when using alcohol-fixed smears, showing enhanced accuracy for EGLs detection regardless of human papillomavirus status. Immunocytochemical analysis of HNF4α in cervical smears can be used for EGL detection and early diagnosis of cervical cancer.

肝细胞核因子4α (HNF4α)参与肿瘤发生和癌症进展。本研究评估了HNF4α在检测宫颈内腺病变(EGLs)中的诊断潜力,包括宫颈内腺癌(ECAs)、原位腺癌(AIS)和小叶宫颈内腺增生(LEGH)。方法采用免疫细胞化学方法对14例组织学证实的EGLs患者(8例乳头瘤病毒相关(HPVA) ECAs, 1例非nhpva ECAs, 2例HPVA AIS和3例LEGHs)的酒精固定涂片和配对的福尔马林固定石蜡包埋组织标本进行HNF4α表达检测。3例鳞状细胞癌(SCCs)和2例非肿瘤性病变也作为非egl对照进行分析。HNF4α阳性定义为细胞核染色在一个或多个细胞(s)/片,无论强度。结果组织学确诊的EGL病例细胞学诊断为腺癌4例,非典型腺细胞8例,误分意义不明的非典型鳞状细胞1例,误分SCC 1例,敏感性为85.7%,特异性为100%。在非典型腺体和组织标本中,HNF4α表达强烈且弥漫性,而非肿瘤性腺体和非肿瘤性/肿瘤性鳞状上皮中HNF4α表达阴性。HNF4α在组织和涂片样品中的表达一致性为73.7%。值得注意的是,HNF4α免疫细胞化学检测egl的灵敏度和特异性为100%,优于细胞形态学或免疫组织化学诊断(灵敏度为71.4%;特异性,100%)。结论HNF4α是一种可靠的酒精固定涂片诊断标志物,无论人乳头瘤病毒状态如何,其检测egl的准确性都有所提高。宫颈涂片HNF4α免疫细胞化学分析可用于EGL检测和宫颈癌早期诊断。
{"title":"Hepatocyte nuclear factor 4 alpha immunocytochemistry: A useful marker for detecting endocervical glandular lesions in alcohol-fixed smears","authors":"Yuri Noda DDS, PhD,&nbsp;Kaori Sando CT,&nbsp;Masato Kita MD, PhD,&nbsp;Koji Tsuta MD, PhD","doi":"10.1002/cncy.70034","DOIUrl":"10.1002/cncy.70034","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Hepatocyte nuclear factor 4 alpha (HNF4α) contributes to tumorigenesis and cancer progression. This study evaluated the diagnostic potential of HNF4α for detecting endocervical glandular lesions (EGLs), including endocervical adenocarcinomas (ECAs), adenocarcinomas in situ (AIS), and lobular endocervical glandular hyperplasias (LEGH) using alcohol-fixed cytological smears.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>HNF4α expression was immunocytochemically assessed in alcohol-fixed smears and paired formalin-fixed paraffin-embedded tissue specimens obtained from 14 patients with histologically confirmed EGLs: eight papillomavirus-associated (HPVA) ECAs, one non-NHPVA ECA, two HPVA AIS, and three patients with LEGHs. Three cases of squamous cell carcinomas (SCCs) and two cases of non-neoplastic lesions were also analyzed as non-EGL controls. HNF4α positivity was defined as nuclear staining in one or more cell(s)/slide, regardless of intensity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Histologically confirmed EGL cases were cytologically diagnosed as four adenocarcinomas, eight atypical glandular cells, one misclassified atypical squamous cells of undetermined significance, and one misclassified SCC, with a sensitivity of 85.7% and specificity of 100%. Strong and diffuse nuclear HNF4α expression was observed in atypical glands in both smears and tissue specimens, whereas non-neoplastic glands and non-neoplastic/neoplastic squamous epithelium were HNF4α-negative. HNF4α expression showed 73.7% concordance between tissue and smear samples. Notably, HNF4α immunocytochemistry demonstrated 100% sensitivity and specificity for detecting EGLs, outperforming cytomorphological or immunohistochemical diagnosis (sensitivity, 71.4%; specificity, 100%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>HNF4α is a reliable diagnostic marker when using alcohol-fixed smears, showing enhanced accuracy for EGLs detection regardless of human papillomavirus status. Immunocytochemical analysis of HNF4α in cervical smears can be used for EGL detection and early diagnosis of cervical cancer.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"133 8","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cncy.70034","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144666511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diagnostic accuracy and risk stratification of pancreatic cyst fluids diagnosed as mucinous neoplasms without mucinous epithelium 无黏液上皮胰腺囊肿液诊断为黏液性肿瘤的诊断准确性和风险分层
IF 3.2 3区 医学 Q3 ONCOLOGY Pub Date : 2025-07-10 DOI: 10.1002/cncy.70030
Priscila Dias Goncalves MD, M. Lisa Zhang MD

Introduction

Neoplastic mucinous cysts (NMC) are premalignant lesions that can be diagnosed on pancreatic cyst fluid (PCF) based on elevated carcinoembryonic antigen or thick extracellular mucin (ECM) without mucinous epithelium. Under the World Health Organization classification, such cases are considered “pancreaticobiliary neoplasm, low-risk/grade.” This study evaluates the diagnostic accuracy and risk of cysts diagnosed as NMC without mucinous epithelium.

Materials and methods

A total of 609 PCF specimens (493 patients) diagnosed as NMC were identified; 279/609 (45.8%) had no mucinous epithelium: 182 and 61 were diagnosed based only on elevated carcinoembryonic antigen ≥192 ng/mL or ECM, respectively.

Results

Among PCF without mucinous epithelium and with molecular correlation, 110/165 (66.7%) harbored KRAS/GNAS/RNF43 mutations. High-risk mutations (TP53/CDKN2A/SMAD4) occurred at similar rates in cysts with low-grade mucinous epithelium as in those without mucinous epithelium (6.5% vs. 3.6%, p = .224). A total of 63/71 (88.7%) resections from cysts without mucinous epithelium were confirmed as NMC: 40 (56.3%) had low-grade dysplasia and 23 (32.4%) had at least high-grade dysplasia. A total of 142/279 (50.9%) PCF without mucinous epithelium were molecularly or histologically confirmed as NMC. No significant differences were found in the rates of new worrisome radiologic features, invasive carcinoma, or disease-related mortality between the groups. Patient survival trended lower in the cohort with mucinous epithelium, though rates were comparable upon subanalysis of only “pancreaticobiliary neoplasm, low-risk/grade” cysts.

Conclusions

Even though PCF diagnosed as NMC without mucinous epithelium defaults to a low-risk category, the rates of high-grade neoplasia/high-risk outcomes are comparable to those with low-grade mucinous epithelium, supporting continued utility of carcinoembryonic antigen and ECM as diagnostic criteria for NMC in the absence of mucinous epithelium.

肿瘤黏液囊肿(NMC)是一种癌前病变,可以在胰腺囊肿液(PCF)上诊断,基于癌胚抗原升高或无黏液上皮的厚细胞外黏液(ECM)。根据世界卫生组织的分类,这类病例被认为是“低风险/分级的胰胆管肿瘤”。本研究评估诊断为无黏液上皮的NMC囊肿的诊断准确性和风险。材料与方法诊断为NMC的PCF标本共609份(493例);279/609例(45.8%)无粘液上皮,182例和61例分别仅根据癌胚抗原≥192 ng/mL升高或ECM诊断。结果在无黏液上皮且分子相关的PCF中,110/165(66.7%)存在KRAS/GNAS/RNF43突变。高风险突变(TP53/CDKN2A/SMAD4)在低级别黏液上皮囊肿和无黏液上皮囊肿中的发生率相似(6.5% vs. 3.6%, p = 0.224)。63/71例(88.7%)无黏液上皮囊肿切除术被证实为NMC: 40例(56.3%)为低级别非典型增生,23例(32.4%)为至少高级别非典型增生。142/279例(50.9%)无黏液上皮的PCF在分子或组织学上被证实为NMC。两组之间在新的令人担忧的放射学特征、浸润性癌或疾病相关死亡率方面没有发现显著差异。粘液上皮组患者的生存率较低,但在仅“胰胆管肿瘤,低风险/分级”囊肿的亚分析中,生存率相当。尽管诊断为无粘液上皮NMC的PCF默认为低风险类别,但高级别瘤变/高风险结局的发生率与低级别粘液上皮相当,这支持了癌胚抗原和ECM作为无粘液上皮NMC的诊断标准的继续应用。
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引用次数: 0
Diagnostic performance of SHOX2 and RASSF1A gene methylation assays in malignant pleural effusion: A systematic review and meta-analysis SHOX2和RASSF1A基因甲基化检测在恶性胸腔积液中的诊断价值:一项系统综述和荟萃分析
IF 3.2 3区 医学 Q3 ONCOLOGY Pub Date : 2025-07-04 DOI: 10.1002/cncy.70031
Mohamed Smail Aissani MD, Kyrillos Mahrous Gerges MD, Ahmed Msherghi MD, Hajer Farrara MD, Dawood Alatefi MD, Imane Chenfouh MD, Arwi Omar Kara MBBCh, Maram Abuajamieh MBBCh, Ghada Kareem MBBCh, Mohammed Benhammou MD, Mohamed E. Ali MD, Max Wintermark MD, MAS, Muhammed Elhadi MBBCh, MSc

Background

Malignant pleural effusion (MPE) is a common complication of advanced malignancies, requiring differentiation from benign pleural effusion for appropriate management. Cytology and biopsy have limitations, necessitating more sensitive, less invasive diagnostic techniques. The objective of this study was to evaluate the diagnostic accuracy of methylated SHOX2 (short-stature homeobox 2) and RASSF1A (Ras association domain family member 1A) genes in detecting MPE.

Methods

A systematic review and meta-analysis included studies that compared benign pleural effusion and MPE cohorts using methylation of SHOX2 and RASSF1A genes in pleural fluid as the index test and cytology/histopathology as the reference standard. A random-effects model was used to calculate sensitivity, specificity, predictive values, and diagnostic odds ratios. Subgroup analysis assessed performance in lung-predominant versus nonlung-predominant MPE.

Results

Four studies with a total of 534 participants were included. The pooled sensitivity and specificity were 85% (95% confidence interval [CI], 53%–96%; heterogeneity [I2] = 0.00%) and 92% (95% CI, 88%–95%; I2 = 24.8%), respectively. The positive and negative predictive values were 93% (95% CI, 85%–97%; I2 = 61.5%) and 84% (95% CI, 53%–96%; I2 = 0.00%), respectively. The diagnostic odds ratio was 22.78 (95% CI, 11.00–47.17; I2 = 25.8%). Subgroup analysis showed a slight decrease in sensitivity (70%; 95% CI, 64%–76%; I2 = 0.00%) and specificity (91%; 95% CI, 86%–94%; I2 = 26.1%) when excluding the study with a lung cancer-predominant population.

Conclusions

The combined analysis of SHOX2 and RASSF1A methylation demonstrated promising diagnostic accuracy for MPE detection, outperforming cytology. This less invasive method could reduce reliance on more invasive procedures, although further research is needed to confirm its efficacy across diverse populations and cancer types.

背景:恶性胸腔积液(MPE)是晚期恶性肿瘤的常见并发症,需要与良性胸腔积液鉴别以进行适当的治疗。细胞学和活组织检查有局限性,需要更敏感、侵入性更小的诊断技术。本研究的目的是评估甲基化SHOX2 (short-身材同源盒2)和RASSF1A (Ras关联结构域家族成员1A)基因在检测MPE中的诊断准确性。方法系统回顾和荟萃分析纳入了以胸膜液中SHOX2和RASSF1A基因甲基化为指标,细胞学/组织病理学为参考标准,比较良性胸腔积液和MPE队列的研究。随机效应模型用于计算敏感性、特异性、预测值和诊断优势比。亚组分析评估肺显性与非肺显性MPE的表现。结果纳入4项研究,共534名受试者。合并敏感性和特异性为85%(95%置信区间[CI], 53%-96%;异质性[I2] = 0.00%)和92% (95% CI, 88%-95%;I2 = 24.8%)。阳性和阴性预测值分别为93% (95% CI, 85%-97%;I2 = 61.5%)和84% (95% CI, 53%-96%;I2 = 0.00%)。诊断优势比为22.78 (95% CI, 11.00-47.17;i2 = 25.8%)。亚组分析显示敏感性略有下降(70%;95% ci, 64%-76%;I2 = 0.00%)和特异性(91%;95% ci, 86%-94%;I2 = 26.1%),排除肺癌主要人群的研究。结论SHOX2和RASSF1A甲基化的联合分析在MPE检测中具有很好的诊断准确性,优于细胞学。这种侵入性较小的方法可以减少对侵入性较大的手术的依赖,尽管需要进一步的研究来证实其对不同人群和癌症类型的有效性。
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引用次数: 0
DICER1 mutations in Bethesda category II, III, and IV thyroid nodules: A mutually exclusive relationship with BRAFV600E mutation Bethesda II、III、IV类甲状腺结节中的DICER1突变:与BRAFV600E突变的互排斥关系
IF 3.2 3区 医学 Q3 ONCOLOGY Pub Date : 2025-07-03 DOI: 10.1002/cncy.70029
Yulian Wang MS, Guangqi Li MS, Weimao Kong MS, Jianxia Hu MD, Longnv Bao MS, Xingzhu Pan MS, Xueqing Li MS, Jigang Wang MD, PhD

Background

This study aimed to investigate the prevalence and cytological features of Dicer 1, Ribonuclease III (DICER)-mutant fine-needle aspiration (FNA) specimens in thyroid nodules classified as Bethesda II, III, and IV categories. The authors also sought to explore the relationship between DICER1 and BRAFV600E mutations in Bethesda III thyroid nodules.

Methods

The authors collected a series of consecutive FNA cases diagnosed as Bethesda category II, III, and IV from a medical center over the course of 1 year. DICER1 exons 24 and 25 and TERT promoter mutations were detected by Sanger sequencing in all cases, and BRAFV600E mutations were detected by amplification refractory mutation system PCR in Bethesda III and IV cases.

Results

A total of 899 patients were included in the study. DICER1 mutations were identified in 52 patients: 20 in Bethesda category II (6.2%, 20 of 322), 25 in Bethesda category III (4.9%, 25 of 510), and seven in Bethesda category IV (10.4%, 7 of 67). Among the 510 Bethesda III FNA samples, 76 harbored the BRAFV600E mutation and 25 harbored DICER1 mutations. BRAFV600E and DICER1 mutations were mutually exclusive. In Bethesda category II and III cases, patients with DICER1-mutant nodules were younger and had larger nodule volumes compared to those without DICER1 mutations. All DICER1-mutant Bethesda III FNAs were classified as atypia of undetermined significance (AUS)-other. TERT promoter mutations (c. -118G>T and c. -144 C>T) were identified in two FNA samples.

Conclusion

The findings of this study suggest that DICER1-mutant nodules are unlikely to be BRAF-mutant carcinomas. Further study of the molecular characteristics of DICER1-mutant FNAs will contribute to more accurate cytological diagnosis.

本研究旨在探讨Bethesda II、III和IV类甲状腺结节中Dicer 1、核糖核酸酶III (Dicer)突变体细针穿刺(FNA)标本的患病率和细胞学特征。作者还试图探讨DICER1和BRAFV600E突变在Bethesda III型甲状腺结节中的关系。方法收集某医疗中心连续1年诊断为Bethesda II、III、IV类的FNA病例。所有病例采用Sanger测序检测DICER1外显子24、25和TERT启动子突变,Bethesda III和IV例采用扩增难解突变系统PCR检测BRAFV600E突变。结果共纳入899例患者。在52例患者中发现DICER1突变:20例为Bethesda II型(6.2%,322例中有20例),25例为Bethesda III型(4.9%,510例中有25例),7例为Bethesda IV型(10.4%,67例中有7例)。在510份Bethesda III型FNA样本中,76份携带BRAFV600E突变,25份携带DICER1突变。BRAFV600E和DICER1突变是互斥的。在Bethesda II类和III类病例中,与没有DICER1突变的患者相比,DICER1突变结节患者更年轻,结节体积更大。所有dicer1突变体Bethesda III FNAs均被归类为非典型性(AUS)-other。在两个FNA样本中鉴定出TERT启动子突变(c. -118G>;T和c. -144 C>;T)。结论本研究结果提示dicer1突变结节不太可能是braf突变型癌。进一步研究dicer1突变FNAs的分子特征将有助于更准确的细胞学诊断。
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Cancer Cytopathology
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