Recasens M, Oriola J, Fernández-Real J M, Roig J, Rodríguez-Hermosa J I, Font J A, Galofre P, López-Bermejo A, Ricart W
Endocrinology, Hospital de Girona Dr Josep Trueta, Girona, Spain.
Clin Endocrinol (Oxf). 2007 Jul;67(1):29-33. doi: 10.1111/j.1365-2265.2007.02830.x. Epub 2007 Apr 27.
A diagnosis of bilateral pheochromocytoma warrants exclusion of hereditary pheochromocytoma.
To describe the first case of a bilateral pheochromocytoma associated with V804M mutation in the RET proto-oncogene.
The index case was a 54-year-old man with bilateral adrenal masses discovered during a CT scan performed for other reasons.
Genetic analysis included exons 8-11 and 13-17 in the RET proto-oncogene, all four exons and flanking intronic regions in the SDHD gene, all eight exons and flanking intronic regions in the SDHB, and all three exons in the VHL gene.
Investigations revealed elevated urinary metanephrines (32.3 micromol/day), and laparoscopic bilateral adrenalectomy confirmed bilateral pheochromocytomas. A heterozygous V804M mutation in exon 14 of the RET was found in the index case and in four relatives. Total thyroidectomy, performed in four of five affected members in this kindred, disclosed a medullary thyroid carcinoma in the index case and in a 50-year-old woman, and nodular C-cell hyperplasia in the other two subjects.
This clinical case suggests that individuals carrying the germline V804M mutation should be screened annually for the presence of pheochromocytoma.
双侧嗜铬细胞瘤的诊断需要排除遗传性嗜铬细胞瘤。
描述首例与RET原癌基因V804M突变相关的双侧嗜铬细胞瘤病例。
索引病例是一名54岁男性，因其他原因进行CT扫描时发现双侧肾上腺肿块。
基因分析包括RET原癌基因的第8 - 11外显子和第13 - 17外显子、SDHD基因的所有四个外显子及其侧翼内含子区域、SDHB的所有八个外显子及其侧翼内含子区域以及VHL基因的所有三个外显子。
检查发现尿间甲肾上腺素升高（32.3微摩尔/天），腹腔镜双侧肾上腺切除术证实为双侧嗜铬细胞瘤。在索引病例及其四名亲属中发现RET第14外显子存在杂合V804M突变。该家族中五名受影响成员中的四名接受了全甲状腺切除术，索引病例和一名50岁女性被诊断为甲状腺髓样癌，另外两名受试者为结节性C细胞增生。
该临床病例表明，携带种系V804M突变的个体应每年进行嗜铬细胞瘤筛查。
