Genetic testing and counseling for patients with pheochromocytoma and / or paraganglioma

• Main Authors: Chen-Yu Lo, 羅晨瑀
• Other Authors: Wei-Shiung Yang
• Format: Others
• Language: zh-TW
• Published: 2017
• Online Access: http://ndltd.ncl.edu.tw/handle/949588

碩士 === 國立臺灣大學 === 分子醫學研究所 === 105 === Pheochromocytoma and paraganglioma are tumors that originate from adrenal medulla or adrenal gonadal ganglion. The mainly synthesizing and secreting large amounts of catecholamine, such as norepinephrine, epinephrine. For these two diseases, main symptoms are hypertension, paroxysmal headache, sweating, palpitations and other clinical symptoms, and cause heart, brain, kidney and other serious complications. In this thesis, we enrolled the patients with pheochromocyroma/ paraganglioma in 2010, and extracted their DNA form PBMC (peripheral blood mononuclear cell). At that time, we only know these two diseases related to RET, VHL, SDHB, SDHC, SDHD. However, with the progress of genetic medicine, we found that SDHA, NF1, KIF1B, MAX, and TMEM127 were also related to these two diseases. At present, pheochromocytoma / paraganglioma patients can be carried out by clinical symptoms of genetic testing methods. We only tested these 7 patients with previous 5 genes, and found a detection rate with 67% (5/7); the other two patients didn’t find any variants in these 5 genes. There are five genes that detect gene mutation in 7 subjects, and they all have clinical symptoms. We found one mutation in the SDHB gene and was found in the SDHD gene mutation with 4 subjects. Between the genotypes and phenotypes, there are close associated tumor syndromes. I hope to establish a molecular gene detection and a genetic counseling model. Therefore, we can provide necessary genetic testing and proper medical care for those patients and their families. At the same time, we can educate patients and their families about the causes of pheochromocytoma / paraganglioma, and have a correct understanding of the disease.