Casey R, Prendeville S, Joyce C, O'Halloran D
Department of Endocrinology Cork University Hospital Cork Ireland.
Department of Pathology Cork University Hospital Cork Ireland.
Endocrinol Diabetes Metab Case Rep. 2013;2013:130044. doi: 10.1530/EDM-13-0044. Epub 2013 Sep 16.
We present the case of a 30-year-old female who was diagnosed with hereditary phaeochromocytoma secondary to a rare gene mutation in exon 8 of the RET oncogene. This genetic mutation was picked up as part of an extended genetic screen using a method known as next generation sequencing. Detection of this genetic mutation prompted further screening for the manifestation of multiple endocrine neoplasia type 2A (MEN2A). The patient subsequently underwent a thyroidectomy with histology confirming C-cell hyperplasia.
Genetic analysis is an important step in the diagnostic work up of phaeochromocytoma.Extended genetic analysis is important when there is a strong suspicion of hereditary phaeochromocytoma.Mutations in exon 8 of the RET gene are associated with phaeochromocytoma as part of MEN2A syndrome.
我们报告一例30岁女性病例，该患者被诊断为遗传性嗜铬细胞瘤，继发于RET癌基因第8外显子的罕见基因突变。这种基因突变是通过一种称为下一代测序的方法作为扩展基因筛查的一部分被检测到的。这种基因突变的检测促使进一步筛查2A型多发性内分泌肿瘤（MEN2A）的表现。该患者随后接受了甲状腺切除术，组织学检查证实为C细胞增生。
基因分析是嗜铬细胞瘤诊断检查的重要步骤。当高度怀疑遗传性嗜铬细胞瘤时，扩展基因分析很重要。RET基因第8外显子的突变与作为MEN2A综合征一部分的嗜铬细胞瘤相关。
