Bender B U, Altehöfer C, Januszewicz A, Gärtner R, Schmidt H, Hoffmann M M, Heidemann P H, Neumann H P
Department of Internal Medicine, Albert Ludwigs University, Freiburg, Germany.
J Clin Endocrinol Metab. 1997 Oct;82(10):3356-60. doi: 10.1210/jcem.82.10.4050.
Functioning thoracic paraganglioma (pheochromocytoma) is unusual and therefore suggestive of a pathogenesis distinct from that of sporadic adrenal pheochromocytoma. To determine whether the pheochromocytoma-associated syndromes Von Hippel-Lindau disease (VHL) and multiple endocrine neoplasia type 2 (MEN 2) play a role in the development of thoracic functioning paragangliomas, germline DNA from five unselected patients with this rare tumor was analyzed for mutations in the genes that predispose to VHL and MEN 2. Genetic investigations and further clinical data revealed that three had VHL, with two different germline mutations of the vhl gene, but no individual was affected by MEN 2. Two of the three patients with VHL did not show any additional VHL-associated lesions. This result suggests that VHL should be considered in the differential diagnosis of thoracic pheochromocytoma, as such a diagnosis carries further important implications for the patient and family. Conversely, in patients suspected of a catecholamine-secreting tumor and known VHL, thoracic localization should be considered if an adrenal pheochromocytoma cannot be detected.
功能性胸段副神经节瘤（嗜铬细胞瘤）较为罕见，因此提示其发病机制与散发性肾上腺嗜铬细胞瘤不同。为了确定与嗜铬细胞瘤相关的综合征——冯·希佩尔－林道病（VHL）和2型多发性内分泌肿瘤（MEN 2）是否在胸段功能性副神经节瘤的发生中起作用，对5例未经选择的患有这种罕见肿瘤的患者的生殖系DNA进行分析，以检测与VHL和MEN 2相关的基因突变。基因研究及进一步的临床数据显示，3例患有VHL，存在两种不同的vhl基因生殖系突变，但无1例受MEN 2影响。3例VHL患者中有2例未表现出任何其他与VHL相关的病变。这一结果表明，在胸段嗜铬细胞瘤的鉴别诊断中应考虑VHL，因为这一诊断对患者及其家族有进一步的重要意义。相反，对于怀疑患有儿茶酚胺分泌肿瘤且已知患有VHL的患者，如果未检测到肾上腺嗜铬细胞瘤，则应考虑胸段定位。
