Pheochromocytomas (PHEOs) are neuroendocrine catecholamine-producing tumors that shown hypertension as the most common medical complication. Usually, PHEOS are sporadic and about 30% of these tumors harbor germinative mutations in genes like RET, VHL, SDHB, SDHC e SDHD. The von Hippel-Lindau disease is caused by mutations in VHL gene. The proteins codified by SDHB, SDHC e SDHD genes are members of the mitochondrial electron transport chain. This study aimed to screen intragenic deletions in VHL, SDHB, SDHC and SDHD genes in patients with PHEOS, or also parangliomas, sporadic without a defined genetic etiology. For this multiplex ligationt-dependent probe amplification (MLPA) technique will be employed. Identification of a gene mutation may lead to early diagnosis and treatment, regular surveillance, and a better prognosis for patients and their relatives.
News published in Agência FAPESP Newsletter about the scholarship: