嗜铬细胞瘤和副神经节瘤病理分类的最新进展。

Ozgur Mete, C Christofer Juhlin
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摘要

嗜铬细胞瘤和副神经节瘤(PPGLs)代表了神经内分泌肿瘤(NENs)的一个独特的亚群,其特征是遗传多样性和儿茶酚胺分泌的潜力。与上皮性NENs类似,所有ppgl都被归类为恶性肿瘤,具有不同的转移扩散风险。PPGLs起源于肾上腺髓质(肾上腺副神经节内)或肾上腺副神经节外的神经内分泌细胞。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,从而产生了强大的基因型-表型(例如,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,指导诊断和预后。2022年世卫组织PPGLs分类强调,在评估PPGLs时,通过确保将形态学与功能、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,从单纯的形态学诊断方法转向。这种模式对于区分转移性疾病和多灶性原发肿瘤至关重要,特别是在有生殖系突变的患者中,生殖系突变是PPGLs的一个标志,在至少40%的病例中观察到生殖系易感性。这篇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明更新,重点是生物标志物、遗传谱和形态学特征的整合。它还解决了新出现的挑战,例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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Recent progress in the pathologic classification of pheochromocytomas and paragangliomas.

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.

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Adolescent primary hyperparathyroidism. Localization in primary hyperparathyroidism. Parathyroid carcinoma: New insights. Pre-clinical phaeochromocytoma and paraganglioma models: Cell lines, animal models, and a human primary culture model. Recent discoveries of Sino-Caucasian differences in the genetics of phaeochromocytomas and paragangliomas.
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