Pheochromocytoma and functional paraganglioma syndrome: No longer the 10% tumor
Pheochromocytoma and functional paraganglioma syndrome: No longer the 10% tumor
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DOI：
10.1002/jso.20177
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发表时间：
2005-03-01
影响因子：
2.5
通讯作者：
Larsson, C
中科院分区：
文献类型：
--
作者：
Elder, EE;Elder, G;Larsson, C
嗜铬细胞瘤和腹部副神经节瘤是交感神经系统产生儿茶酚胺的肿瘤，而头颈部副神经节瘤是副交感神经起源的非分泌性肿瘤。近年来在临床和分子生物学研究方面的进展，已经明确了这些肿瘤的遗传背景，并挑战了“嗜铬细胞瘤是10%规则肿瘤”的观点。“首先，今天在血压正常的患者中发现了更大比例的这些肿瘤，而不是因为怀疑嗜铬细胞瘤而进行成像。其次，虽然恶性和良性肿瘤之间的鉴别诊断仍然是一个挑战，恶性肿瘤的风险远远超过经典的10%的肾上腺外疾病患者，和/或生殖系SDHB突变的载体。最后，多达三分之一的患者携带一个易患嗜铬细胞瘤和/或副神经节瘤的基因的种系突变。RET、VHL、SDHD或SDHB中的体质突变的鉴定对于患者和可通过筛查相同突变来鉴定的处于风险中的亲属的临床筛查和随访具有意义。因此，在明显散发的病例中进行基因检测被认为是有益的，特别是在50岁之前诊断的患者以及患有双侧、多灶性、恶性和/或肾上腺外疾病的患者中。(C)2005 Wiley-Liss，Inc.
Pheochromocytomas and abdominal paragangliomas are catecholamine-producing tumors of the sympathetic nervous system, while head and neck paragangliomas are non-secreting tumors of parasympathetic origin. Recent developments in clinical and molecular research on these tumor forms have significantly clarified their genetic backgrounds and challenged the view of "pheochromocytoma as the 10% rule tumor." Firstly, a larger proportion of these tumors are today discovered in normotensive patients during imaging carried out for other reasons than suspicion of pheochromocytoma. Secondly, although the differential diagnosis between malignant and benign tumors remains a challenge, the risk of malignancy well exceeds the classical 10% in patients with extra-adrenal disease, and/or carriers of germ-line SDHB mutations. Finally, up to a third of patients carry a germ-line mutation in a gene predisposing to pheochromocytoma and/or paraganglioma. Identification of a constitutional mutation in RET, VHL, SDHD, or SDHB has implications for clinical screening and follow-up for both the patient and for relatives at risk who can be identified by screening for the same mutation. Genetic testing in apparently sporadic cases is therefore regarded as beneficial, especially in patients diagnosed before 50 years of age, and in patients with bilateral, multifocal, malignant and/or extra-adrenal disease. (C) 2005 Wiley-Liss, Inc.