Karagiannis Asterios, Mikhailidis Dimitri P, Athyros Vasilios G, Harsoulis Faidon
Division of Endocrinology, Second Propedeutic Department of Internal Medicine, Medical School, Hippokration Hospital, Aristotle University of Thessaloniki, Thessaloniki 54642, Greece.
Endocr Relat Cancer. 2007 Dec;14(4):935-56. doi: 10.1677/ERC-07-0142.
Pheochromocytomas (PHEOs) are rare neoplasms that produce catecholamines and usually arise from the adrenal medulla and are considered to be an adrenal paraganglioma (PGL). Closely related tumors of extraadrenal sympathetic and parasympathetic paraganglia are classified as extraadrenal PGLs. Most PHEOs are sporadic, but a significant percentage (approximately 25%) may be found in patients with germline mutations of genes predisposing to the development of von Hippel-Lindau disease, neurofibromatosis 1, multiple endocrine neoplasia type 1 (MEN1) and 2 (MEN2), and the PGL/PHEOs syndrome, based on the described mutations of the genes for succinate dehydrogenase subunit D (SDHD), B (SDHB), and C (SDHC). As one out of four PHEOs turns out to be a hereditary clinical entity, screening for genetic alterations is important, as it provides useful information for a rational diagnostic approach and management. This review discusses the genetics, the pathophysiology of hypertension, the clinical picture, the biochemical and imaging diagnosis, and the preferred therapeutic approach for PGLs/PHEOs. Furthermore, it emphasizes the need for genetic testing in cases with apparently sporadic PHEOs.
嗜铬细胞瘤（PHEOs）是一种罕见的肿瘤，可产生儿茶酚胺，通常起源于肾上腺髓质，被认为是肾上腺副神经节瘤（PGL）。肾上腺外交感和副交感神经节的密切相关肿瘤被归类为肾上腺外PGL。大多数嗜铬细胞瘤是散发性的，但根据琥珀酸脱氢酶亚基D（SDHD）、B（SDHB）和C（SDHC）基因的所述突变，在患有易患冯·希佩尔-林道病、神经纤维瘤病1型、多发性内分泌腺瘤1型（MEN1）和2型（MEN2）以及PGL/PHEOs综合征的种系基因突变的患者中，可能会发现相当比例（约25%）的嗜铬细胞瘤。由于四分之一的嗜铬细胞瘤是遗传性临床实体，因此进行基因改变筛查很重要，因为它为合理的诊断方法和管理提供了有用信息。本综述讨论了PGL/PHEO的遗传学、高血压的病理生理学、临床表现、生化和影像学诊断以及首选治疗方法。此外，它强调了在明显散发性嗜铬细胞瘤病例中进行基因检测的必要性。
