Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare, heterogeneous neuroendocrine neoplasms of the autonomous nervous system of chromaffin cell origin that may arise within the adrenal medulla (PCCs) or the sympathetic and parasympathetic paraganglia (PGLs). Currently referred to by the umbrella term pheochromocytomas-paragangliomas (PPGLs), these distinct tumors are characterized by specific histopathology as well as biological and clinical profiles. PPGLs may occur as part of hereditary syndromes (40% of cases) or as sporadic tumors. Currently, there are 12 different hereditary syndromes with characteristic genetic abnormalities, at least 15 well-characterized driver genes and distinct tumor metabolic pathways. Based on the Cancer Genome Atlas (TCGA) taxonomic schemata, PPGLs have been classified into three main clusters of specific genetic mutations and tumor pathways with clinical, biochemical, and prognostic implications. Imaging plays a pivotal role in the initial diagnosis, tumor characterization, evaluation of treatment response, and long-term surveillance. While MDCT and MRI help in the anatomic localization, SPECT, and PET using different radiotracers are crucial in the functional assessment of these tumors. Surgery, chemotherapy, and radiotherapy are currently available treatment options for PPGLs; antiangiogenic drugs are also being used in treating metastatic disease. Evolving knowledge regarding the different genetic abnormalities involved in the pathogenesis of PPGLs has identified potential therapeutic targets that may be utilized in the discovery of novel drugs.

中文翻译：

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嗜铬细胞瘤和神经节旁瘤的遗传学和影像学：当前更新。

嗜铬细胞瘤（PCC）和副神经节瘤（PGL）是嗜铬细胞起源的自主神经系统的稀有异质神经内分泌肿瘤，可能在肾上腺髓质（PCC）或交感和副交感神经节（PGL）中出现。目前被统称为“嗜铬细胞瘤-副神经节瘤”（PPGLs），这些独特的肿瘤的特征在于特定的组织病理学以及生物学和临床特征。PPGLs可能作为遗传综合征的一部分（占病例的40％）或作为散发性肿瘤而发生。当前，有12种具有特征性遗传异常的遗传性综合征，至少15种特征明确的驱动基因和独特的肿瘤代谢途径。根据癌症基因组图谱（TCGA）分类方案，PPGLs已被分为具有临床，生化和预后意义的三个特定基因突变和肿瘤通路的主要簇。影像学在初步诊断，肿瘤特征，治疗反应评估和长期监测中起着关键作用。尽管MDCT和MRI有助于解剖定位，但使用不同的放射性示踪剂进行SPECT和PET对这些肿瘤的功能评估至关重要。目前，外科手术，化学疗法和放射疗法是PPGL的治疗选择。抗血管生成药物也被用于治疗转移性疾病。关于PPGLs发病机理中涉及的不同遗传异常的不断发展的知识已经确定了可能用于发现新药的潜在治疗靶标。