Pheochromocytoma: a changing perspective and current concepts.

IF 4.3 3区 材料科学 Q1 ENGINEERING, ELECTRICAL & ELECTRONIC
ACS Applied Electronic Materials Pub Date : 2023-10-29 eCollection Date: 2023-01-01 DOI:10.1177/20420188231207544
Andreas Kiriakopoulos, Periklis Giannakis, Evangelos Menenakos
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引用次数: 0

Abstract

This article aims to review current concepts in diagnosing and managing pheochromocytoma and paraganglioma (PPGL). Personalized genetic testing is vital, as 40-60% of tumors are linked to a known mutation. Tumor DNA should be sampled first. Next-generation sequencing is the best and most cost-effective choice and also helps with the expansion of current knowledge. Recent advancements have also led to the increased incorporation of regulatory RNA, metabolome markers, and the NETest in PPGL workup. PPGL presentation is highly volatile and nonspecific due to its multifactorial etiology. Symptoms mainly derive from catecholamine (CMN) excess or mass effect, primarily affecting the cardiovascular system. However, paroxysmal nature, hypertension, and the classic triad are no longer perceived as telltale signs. Identifying high-risk subjects and diagnosing patients at the correct time by using appropriate personalized methods are essential. Free plasma/urine catecholamine metabolites must be first-line examinations using liquid chromatography with tandem mass spectrometry as the gold standard analytical method. Reference intervals should be personalized according to demographics and comorbidity. The same applies to result interpretation. Threefold increase from the upper limit is highly suggestive of PPGL. Computed tomography (CT) is preferred for pheochromocytoma due to better cost-effectiveness and spatial resolution. Unenhanced attenuation of >10HU in non-contrast CT is indicative. The choice of extra-adrenal tumor imaging is based on location. Functional imaging with positron emission tomography/computed tomography and radionuclide administration improves diagnostic accuracy, especially in extra-adrenal/malignant or familial cases. Surgery is the mainstay treatment when feasible. Preoperative α-adrenergic blockade reduces surgical morbidity. Aggressive metastatic PPGL benefits from systemic chemotherapy, while milder cases can be managed with radionuclides. Short-term postoperative follow-up evaluates the adequacy of resection. Long-term follow-up assesses the risk of recurrence or metastasis. Asymptomatic carriers and their families can benefit from surveillance, with intervals depending on the specific gene mutation. Trials primarily focusing on targeted therapy and radionuclides are currently active. A multidisciplinary approach, correct timing, and personalization are key for successful PPGL management.

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嗜铬细胞瘤:一个不断变化的观点和当前的概念。
本文旨在综述目前诊断和治疗嗜铬细胞瘤和副神经节瘤(PPGL)的概念。个性化基因检测至关重要,因为40-60%的肿瘤与已知突变有关。应首先对肿瘤DNA进行采样。下一代测序是最好、最具成本效益的选择,也有助于扩展现有知识。最近的进展也导致调节RNA、代谢组标记物和NETest在PPGL研究中的掺入增加。PPGL的表现是高度挥发性和非特异性的,由于其多因素病因。症状主要来自儿茶酚胺(CMN)过量或质量效应,主要影响心血管系统。然而,阵发性、高血压和典型的三联征不再被视为信号。识别高危受试者并通过使用适当的个性化方法在正确的时间诊断患者至关重要。游离血浆/尿液儿茶酚胺代谢产物必须使用液相色谱法和串联质谱法作为金标准分析方法进行一线检查。参考间隔应根据人口统计和共病情况进行个性化。这同样适用于结果解释。从上限增加三倍高度提示PPGL。由于更好的成本效益和空间分辨率,计算机断层扫描(CT)是嗜铬细胞瘤的首选。非对比CT中>10HU的未增强衰减是指示性的。肾上腺外肿瘤成像的选择是基于位置的。正电子发射断层扫描/计算机断层扫描和放射性核素给药的功能成像提高了诊断准确性,尤其是在肾上腺外/恶性或家族性病例中。在可行的情况下,手术是主要的治疗方法。术前α-肾上腺素能阻滞剂可降低手术发病率。侵袭性转移性PPGL受益于全身化疗,而较轻的病例可以用放射性核素治疗。术后短期随访评估切除的充分性。长期随访评估复发或转移的风险。无症状携带者及其家人可以从监测中受益,监测间隔取决于特定的基因突变。主要集中在靶向治疗和放射性核素方面的试验目前正在进行中。多学科方法、正确的时间安排和个性化是PPGL管理成功的关键。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
7.20
自引率
4.30%
发文量
567
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