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嗜铬细胞瘤和副神经节瘤病理分类的最新进展

Recent progress in the pathologic classification of pheochromocytomas and paragangliomas.

作者信息

Mete Ozgur, Juhlin C Christofer

机构信息

Department of Pathology, University Health Network, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Temerty Faculty of Medicine, Toronto, ON, Canada; Endocrine Oncology Site, Princess Margaret Cancer Centre, Toronto, ON, Canada.

Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Department of Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden.

出版信息

Best Pract Res Clin Endocrinol Metab. 2024 Dec;38(6):101958. doi: 10.1016/j.beem.2024.101958. Epub 2024 Nov 26.

Abstract

Pheochromocytomas and paragangliomas (PPGLs) represent a unique subset of neuroendocrine neoplasms (NENs) characterized by their genetic diversity and potential for catecholamine secretion. Similar to epithelial NENs, all PPGLs are classified as malignant neoplasms that are associated with a variable risk of metastatic spread. PPGLs arise from neuroendocrine cells of the adrenal medulla (intra-adrenal paraganglia) or extra-adrenal paraganglia. Advances over the past two decades have significantly enhanced our understanding of the biological and genetic underpinnings of these neoplasms, resulting in robust genotype-phenotype (e.g., morphology, anatomic distribution, catecholamine profile, biomarker profile, risk of metastasis) correlations that guide diagnosis and prognostication. The 2022 WHO classification of PPGLs emphasizes a shift away from morphology-only diagnostic approaches by ensuring the integration of morphology with functional, structural and pathogenesis-related biomarker studies into routine pathology practice when assessing PPGLs. This paradigm is critical in distinguishing metastatic disease from multifocal primary tumors, particularly in patients with germline mutations - a hallmark of PPGLs, with germline susceptibility observed in at least 40 % of cases. This review provides practicing pathologists with a concise update on modern diagnostic and risk assessment strategies for PPGLs, focusing on the integration of biomarkers, genetic profiling, and morphological features. It also addresses emerging challenges, such as identifying metastatic potential and distinguishing these from synchronous lesions, to improve multidisciplinary care of these patients.

摘要

嗜铬细胞瘤和副神经节瘤(PPGLs)是神经内分泌肿瘤(NENs)中的一个独特子集,其特点是具有遗传多样性和分泌儿茶酚胺的潜力。与上皮性NENs相似,所有PPGLs都被归类为恶性肿瘤,与不同的转移风险相关。PPGLs起源于肾上腺髓质(肾上腺内副神经节)或肾上腺外副神经节的神经内分泌细胞。过去二十年的进展显著增强了我们对这些肿瘤的生物学和遗传学基础的理解,产生了强大的基因型-表型(如形态学、解剖分布、儿茶酚胺谱、生物标志物谱、转移风险)相关性,以指导诊断和预后评估。2022年世界卫生组织(WHO)对PPGLs的分类强调了从仅基于形态学的诊断方法的转变,确保在评估PPGLs时将形态学与功能、结构和发病机制相关的生物标志物研究整合到常规病理实践中。这种模式对于区分转移性疾病和多灶性原发性肿瘤至关重要,特别是在患有胚系突变的患者中——这是PPGLs的一个标志,至少40%的病例存在胚系易感性。本综述为执业病理学家提供了关于PPGLs现代诊断和风险评估策略的简要更新,重点是生物标志物、基因谱分析和形态学特征的整合。它还探讨了新出现的挑战,如识别转移潜力并将其与同步病变区分开来,以改善这些患者的多学科护理。

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