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Insights into Biologic Evolution of Grade 3 Neuroendocrine Tumors Reflect Classification Challenges. 3级神经内分泌肿瘤的生物学进化反映了分类的挑战。
IF 11.3 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-12-01 DOI: 10.1007/s12022-024-09844-x
Ozgur Mete
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引用次数: 0
Endocrine Pathology Society Hubert Wolfe Award for 2024: Call for Nominations. 内分泌病理学会 2024 年休伯特-沃尔夫奖:征集提名。
IF 11.3 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-22 DOI: 10.1007/s12022-024-09831-2
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引用次数: 0
Transcriptomic Differences in Medullary Thyroid Carcinoma According to Grade. 不同等级甲状腺髓样癌的转录组差异
IF 11.3 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-01 Epub Date: 2024-07-03 DOI: 10.1007/s12022-024-09817-0
Ignacio Ruz-Caracuel, Tamara Caniego-Casas, Teresa Alonso-Gordoa, Irene Carretero-Barrio, Carmen Ariño-Palao, Almudena Santón, Marta Rosas, Héctor Pian, Javier Molina-Cerrillo, Patricia Luengo, José Palacios

Medullary thyroid carcinoma (MTC) is a rare cancer derived from neuroendocrine C-cells of the thyroid. In contrast to other neuroendocrine tumors, a histological grading system was lacking until recently. A novel two-tier grading system based on the presence of high proliferation or necrosis is associated with prognosis. Transcriptomic analysis was conducted on 21 MTCs, including 9 high-grade tumors, with known mutational status, using the NanoString Tumor Signaling 360 Panel. This analysis, covering 760 genes, revealed upregulation of the genes EGLN3, EXO1, UBE2T, UBE2C, FOXM1, CENPA, DLL3, CCNA2, SOX2, KIF23, and CDCA5 in high-grade MTCs. Major pathways differentially expressed between high-grade and low-grade MTCs were DNA damage repair, p53 signaling, cell cycle, apoptosis, and Myc signaling. Validation through qRT-PCR in 30 MTCs demonstrated upregulation of ASCL1, DLL3, and SOX2 in high-grade MTCs, a gene signature akin to small-cell lung carcinoma, molecular subgroup A. Subsequently, DLL3 expression was validated by immunohistochemistry. MTCs with DLL3 overexpression (defined as ≥ 50% of positive tumor cells) were associated with significantly lower disease-free survival (p = 0.041) and overall survival (p = 0.01). Moreover, MTCs with desmoplasia had a significantly increased expression of DLL3. Our data supports the idea that DLL3 should be further explored as a predictor of aggressive disease and poor outcomes in MTC.

甲状腺髓样癌(MTC)是一种罕见的癌症,源自甲状腺的神经内分泌C细胞。与其他神经内分泌肿瘤相比,直到最近才有了组织学分级系统。新的两级分级系统以是否存在高度增殖或坏死为基础,与预后相关。利用 NanoString Tumor Signaling 360 Panel 对 21 例 MTC 进行了转录组分析,其中包括 9 例已知突变状态的高级别肿瘤。该分析涵盖了 760 个基因,发现在高级别 MTC 中,EGLN3、EXO1、UBE2T、UBE2C、FOXM1、CENPA、DLL3、CCNA2、SOX2、KIF23 和 CDCA5 等基因上调。高级别和低级别 MTC 之间表达不同的主要通路包括 DNA 损伤修复、p53 信号传导、细胞周期、细胞凋亡和 Myc 信号传导。通过对 30 例 MTC 进行 qRT-PCR 验证,发现高级别 MTC 中的 ASCL1、DLL3 和 SOX2 上调,这一基因特征与小细胞肺癌分子亚组 A 相似。DLL3过表达(定义为≥50%的阳性肿瘤细胞)的MTC与较低的无病生存率(p = 0.041)和总生存率(p = 0.01)相关。此外,有脱落细胞的 MTC 的 DLL3 表达明显增加。我们的数据支持这样一种观点,即应进一步研究 DLL3 作为 MTC 侵袭性疾病和不良预后的预测因子的作用。
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引用次数: 0
Isolated Tumor Cells Node Micro-metastasis in Early-Stage Small Intestinal Neuroendocrine Tumor. 早期小肠神经内分泌瘤的孤立肿瘤细胞结节微转移
IF 11.3 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-01 Epub Date: 2024-08-22 DOI: 10.1007/s12022-024-09823-2
Giulia Scaglione, Pietro Fransvea, Enza Genco, Guido Rindi
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引用次数: 0
Primary Secretory Carcinoma of the Thyroid Gland with ETV6::NTRK3 Gene Fusion. 与 ETV6::NTRK3 基因融合的甲状腺原发性分泌性癌
IF 11.3 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-01 Epub Date: 2024-07-22 DOI: 10.1007/s12022-024-09820-5
Rumeal D Whaley, Lori A Erickson
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引用次数: 0
Granulation Patterns of Functional Corticotroph Tumors Correlate with Tumor Size, Proliferative Activity, T2 Intensity-to-White Matter Ratio, and Postsurgical Early Biochemical Remission. 功能性皮质营养瘤的肉芽形态与肿瘤大小、增殖活性、T2强度与白质比值以及手术后早期生化缓解相关。
IF 11.3 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-01 Epub Date: 2024-07-24 DOI: 10.1007/s12022-024-09819-y
Elif Tutku Durmuş, Mehmet Kefeli, Ozgur Mete, Sultan Çalışkan, Kerim Aslan, Mustafa Arda Onar, Ramis Çolak, Buğra Durmuş, Cengiz Cokluk, Ayşegül Atmaca

Unlike somatotroph tumors, the data on correlates of tumor granulation patterns in functional TPIT lineage pituitary neuroendocrine tumors (corticotroph tumors) have been less uniformly documented in most clinical series. This study evaluated characteristics of 41 well-characterized functional corticotroph tumors consisting of 28 densely granulated corticotroph tumors (DGCTs) and 13 sparsely granulated corticotroph tumors (SGCTs) with respect to preoperative clinical and radiological findings, tumor proliferative activity (including mitotic count and Ki-67 labeling index), and postoperative early biochemical remission rates. The median (interquartile range (IQR)) tumor size was significantly larger in the SGCT group [16.00 (16.00) mm in SGCT vs 8.5 (9.75) mm in DGCT, p = 0.049]. T2-weighted signal intensity and T2 intensity (quantitative) did not yield statistical significance based on tumor granulation; however, the T2 intensity-to-white matter ratio was significantly higher in SGCTs (p = 0.049). The median (IQR) Ki-67 labeling index was 2.00% (IQR 1.00%) in the DGCT group and 4.00% (IQR 7.00%) in the SGCT group (p = 0.043). The mitotic count per 2 mm2 was higher in the SGCT group (p = 0.001). In the multivariate analysis, the sparse granulation pattern (SGCT) remained an independent predictor of a lower probability of early biochemical remission irrespective of the tumor size and proliferative activity (p = 0.012). The current study further supports the impact of tumor granulation pattern as a biologic variable and warrants the detailed histological subtyping of functional corticotroph tumors as indicated in the WHO classification of pituitary neuroendocrine tumors. More importantly, the assessment of the quantitative T2 intensity-to-white matter ratio may serve as a preoperative radiological harbinger of SGCTs.

与体细胞瘤不同,在大多数临床系列中,关于功能性 TPIT 系垂体神经内分泌肿瘤(促皮质素瘤)肿瘤肉芽形态相关性的数据记录并不统一。本研究评估了 41 例特征明确的功能性皮质营养瘤的特征,其中包括 28 例密颗粒皮质营养瘤(DGCTs)和 13 例疏颗粒皮质营养瘤(SGCTs),涉及术前临床和放射学检查结果、肿瘤增殖活性(包括有丝分裂计数和 Ki-67 标记指数)以及术后早期生化缓解率。SGCT组的肿瘤中位数(四分位间距(IQR))明显大于DGCT组[SGCT为16.00(16.00)毫米,DGCT为8.5(9.75)毫米,P = 0.049]。T2加权信号强度和T2强度(定量)在肿瘤肉芽的基础上没有统计学意义;但是,SGCT的T2强度与白质比值明显更高(P = 0.049)。DGCT组的Ki-67标记指数中位数(IQR)为2.00%(IQR为1.00%),SGCT组为4.00%(IQR为7.00%)(p = 0.043)。SGCT 组每 2 平方毫米的有丝分裂计数更高(p = 0.001)。在多变量分析中,无论肿瘤大小和增殖活性如何,稀疏肉芽模式(SGCT)仍是早期生化缓解概率较低的独立预测因子(p = 0.012)。目前的研究进一步证实了肿瘤肉芽模式作为一个生物变量的影响,并认为有必要按照世界卫生组织垂体神经内分泌肿瘤分类的指示,对功能性皮质营养肿瘤进行详细的组织学亚型分类。更重要的是,定量 T2 强度与白质比值的评估可作为 SGCT 的术前放射学预兆。
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引用次数: 0
Somatic Molecular Heterogeneity in Bilateral Macronodular Adrenocortical Disease (BMAD) Differs Among the Pathological Subgroups. 双侧巨肾上腺皮质病 (BMAD) 的体细胞分子异质性在不同病理亚组之间存在差异。
IF 11.3 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-01 Epub Date: 2024-08-24 DOI: 10.1007/s12022-024-09824-1
Florian Violon, Lucas Bouys, Patricia Vaduva, Albain Chansavang, Louis Vaquier, Franck Letourneur, Brigitte Izac, Gaëtan Giannone, Daniel De Murat, Martin Gaillard, Annabel Berthon, Bruno Ragazzon, Eric Pasmant, Mathilde Sibony, Jérôme Bertherat

Bilateral macronodular adrenocortical disease (BMAD) is an uncommon cause of Cushing's syndrome leading to bilateral macronodules. Isolated BMAD has been classified into three molecular groups: patients with ARMC5 alteration, KDM1A alteration, and patients without known genetic cause. The aim of this study was to identify by NGS, in a cohort of 26 patients with BMAD, the somatic alterations acquired in different nodules after macrodissection from patients with germline ARMC5 or KDM1A alterations and to analyze potential somatic alterations in a panel of five other genes involved in adrenal pathology (GNAS, PDE8B, PDE11A, PRKAR1A, and PRKACA). Twenty-three patients (7 ARMC5, 3 KDM1A, and 13 BMAD with unknown genetic cause) were analyzable. Somatic ARMC5 or KDM1A events were exclusively observed in patients with germline ARMC5 and KDM1A alterations, respectively. Six out of 7 ARMC5 patients have a high heterogeneity in identified somatic events, whereas one ARMC5 and all KDM1A patients show a loss of heterozygosity (LOH) in all nodules. Except for passenger alterations of GNAS, no genetic alteration susceptible to causing the disease was detected in the BMAD with unknown genetic cause. Our study reinforces our knowledge of the somatic genetic heterogeneity of ARMC5 and the somatic homogeneity of KDM1A. It reveals the absence of purely somatic events in these two genes and provides a new tool for detecting KDM1A alterations by FISH 1p36/1q25.

双侧大结节性肾上腺皮质病(BMAD)是导致双侧大结节性库欣综合征的一种不常见病因。孤立的 BMAD 被分为三个分子组:ARMC5 改变、KDM1A 改变和无已知遗传原因的患者。本研究的目的是在 26 例 BMAD 患者中,通过 NGS 鉴定来自 ARMC5 或 KDM1A 基因改变患者的大体切除术后不同结节中获得的体细胞改变,并分析涉及肾上腺病理学的其他五个基因(GNAS、PDE8B、PDE11A、PRKAR1A 和 PRKACA)的潜在体细胞改变。可对 23 例患者(7 例 ARMC5、3 例 KDM1A 和 13 例遗传原因不明的 BMAD)进行分析。体细胞ARMC5或KDM1A事件只分别出现在ARMC5和KDM1A基因改变的患者中。在 7 例 ARMC5 患者中,有 6 例患者的体细胞事件具有高度异质性,而 1 例 ARMC5 患者和所有 KDM1A 患者的所有结节均显示出杂合性缺失(LOH)。除 GNAS 的客体改变外,在遗传原因不明的 BMAD 患者中未发现易导致该病的基因改变。我们的研究加强了我们对 ARMC5 的体细胞遗传异质性和 KDM1A 的体细胞同质性的认识。它揭示了这两个基因中不存在纯粹的体细胞事件,并为通过 FISH 1p36/1q25 检测 KDM1A 基因改变提供了一种新工具。
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引用次数: 0
Novel Drop-off PCR Assay for USP8 Hotspot Variant Detection in Corticotroph Tumors. 用于皮质营养肿瘤中 USP8 热点变异检测的新型脱落 PCR 分析法
IF 11.3 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-01 Epub Date: 2024-09-04 DOI: 10.1007/s12022-024-09825-0
Renan Lyra Miranda, Alexandro Guterres, Carlos Henrique de Azeredo Lima, Elisa Lamback, Mônica R Gadelha
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引用次数: 0
RAS-Mutant Follicular Thyroid Tumors: A Continuous Challenge for Pathologists. RAS突变的滤泡性甲状腺肿瘤:病理学家面临的持续挑战。
IF 11.3 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-01 Epub Date: 2024-06-18 DOI: 10.1007/s12022-024-09812-5
Juan C Hernandez-Prera, Bruce M Wenig

The classification of thyroid nodules, particularly those with a follicular growth pattern, has significantly evolved. These tumors, enriched with RAS or RAS-like mutations, remain challenging for pathologists due to variables such as nuclear atypia, invasion, mitotic activity, and tumor necrosis. This review addresses the histological correlates of benign, low-risk, and malignant RAS-mutant thyroid tumors, as well as some difficult-to-classify follicular nodules with worrisome features. One prototypical RAS-mutant nodule is non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP). The assessment of nuclear characteristics in encapsulated/well-demarcated non-invasive RAS-mutant follicular-patterned tumors helps distinguish between follicular thyroid adenoma (FTA) and NIFTP. Despite this straightforward concept, questions about the degree of nuclear atypia necessary for the diagnosis of NIFTP are common in clinical practice. The nomenclature of follicular nodules lacking clear invasive features with increased mitotic activity, tumor necrosis, and/or high-risk mutations (e.g., TERT promoter or TP53) remains debated. Invasion, particularly angioinvasion, is the current hallmark of malignancy in RAS-mutant follicular-patterned neoplasms, with follicular thyroid carcinoma (FTC) as the model. Assessing the tumor interface is critical, though full capsule evaluation can be challenging. Multiple levels and NRASQ61R-specific immunohistochemistry can aid in identifying invasion. Controversies around vascular invasion persist, with ancillary stains like CD31, ERG, and CD61 aiding in its evaluation. Moreover, the review highlights that invasive encapsulated follicular variant papillary thyroid carcinoma (IEFVPTC) is closely associated with FTC, suggesting the need for better nomenclature. The concept of "high-grade" differentiated carcinomas, applicable to FTC or IEFVPTC with necrosis and/or high mitotic activity, is also discussed.

甲状腺结节,尤其是具有滤泡生长模式的甲状腺结节的分类已经有了很大的发展。由于核不典型性、侵袭、有丝分裂活性和肿瘤坏死等变量的影响,这些富含RAS或RAS样突变的肿瘤对病理学家来说仍具有挑战性。本综述探讨了良性、低风险和恶性RAS突变甲状腺肿瘤的组织学相关性,以及一些具有令人担忧特征的难以分类的滤泡结节。一种典型的RAS突变结节是具有乳头状核特征的非侵袭性滤泡性甲状腺肿瘤(NIFTP)。对包裹性/分界清楚的非侵袭性RAS突变滤泡型肿瘤的核特征进行评估有助于区分滤泡性甲状腺腺瘤(FTA)和NIFTP。尽管概念简单明了,但在临床实践中,关于诊断NIFTP所需的核不典型程度的问题却屡见不鲜。对于缺乏明显侵袭性特征、有丝分裂活动增加、肿瘤坏死和/或高风险突变(如 TERT 启动子或 TP53)的滤泡结节的命名仍存在争议。以甲状腺滤泡癌(FTC)为模型,侵袭,尤其是血管侵袭是目前RAS突变滤泡型肿瘤恶性程度的标志。对肿瘤界面进行评估至关重要,但全面的胶囊评估可能具有挑战性。多层次和NRASQ61R特异性免疫组化可帮助鉴别侵袭。围绕血管侵犯的争议依然存在,CD31、ERG 和 CD61 等辅助染色有助于对其进行评估。此外,综述还强调浸润性包膜滤泡变异型甲状腺乳头状癌(IEFVPTC)与FTC密切相关,这表明需要更好的命名方法。还讨论了 "高级别 "分化癌的概念,该概念适用于有坏死和/或高有丝分裂活性的FTC或IEFVPTC。
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引用次数: 0
Correction: Co-existing Neuroendocrine Tumors in the Ileum and Pancreas: A Clinico-Pathological Challenge. 更正:回肠和胰腺并存的神经内分泌肿瘤:临床病理挑战。
IF 11.3 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-01 DOI: 10.1007/s12022-024-09816-1
Alice Laffi, Alexia Francesca Bertuzzi, Silvia Carrara, Alessandro Zerbi, Andrea Lania, Elisabetta Lavezzi, Giuseppe Ferrillo, Jelena Jandric, Carlo Carnaghi, Roberta Elisa Rossi, Maria Susanna Grimaudo, Paola Spaggiari, Silvia Uccella
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引用次数: 0
期刊
Endocrine Pathology
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