Neumann Hartmut P H, Hoegerle Stefan, Manz Tanja, Brenner Keith, Iliopoulos Othon
Nephrology Section, Department of Medicine, Albert-Ludwigs University, Freiburg, Germany.
Semin Nephrol. 2002 Mar;22(2):89-99. doi: 10.1053/snep.2002.30207.
Pheochromocytomas, like several other tumors, may be either sporadic or the manifestation of a familial cancer syndrome. Recently, major advances have occurred in both the understanding of diverse molecular mechanisms leading to pheochromocytoma and the diagnostic modalities available for detection of the disease. Familial pheochromocytoma may be a manifestation of multiple endocrine neoplasia type 2 (MEN-2), von Hippel-Lindau (VHL), or neurofibromatosis-1 (NF 1) disease. Tumor-suppressor genes responsible for the familial occurrence of extra-adrenal pheochromocytoma, called paraganglioma, have been identified. This wealth of genetic information, coupled with the availability of sensitive and specific biochemical tests as well as imaging studies, allows for genetic screening and early diagnosis of pheochromocytoma. In addition, genetic screening of relatives at risk is now feasible. In this article, we review recent clinical and molecular advances in our understanding of pheochromocytoma.
嗜铬细胞瘤与其他几种肿瘤一样，可能是散发性的，也可能是家族性癌症综合征的表现。最近，在导致嗜铬细胞瘤的多种分子机制的理解以及可用于检测该疾病的诊断方法方面都取得了重大进展。家族性嗜铬细胞瘤可能是2型多发性内分泌腺瘤病（MEN-2）、冯·希佩尔-林道（VHL）病或神经纤维瘤病1型（NF 1）的表现。已鉴定出导致肾上腺外嗜铬细胞瘤（称为副神经节瘤）家族性发生的肿瘤抑制基因。这些丰富的遗传信息，加上灵敏且特异的生化检测以及影像学检查方法，使得嗜铬细胞瘤的基因筛查和早期诊断成为可能。此外，对有风险的亲属进行基因筛查现在也可行。在本文中，我们综述了近期在嗜铬细胞瘤认识方面的临床和分子进展。
