PubMed · 12830781
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Mark Weber. 2003. Pulsus alternans. A case study.. https://pubmed.ncbi.nlm.nih.gov/12830781/
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Pheochromocytomas and paragangliomas are tumors of the autonomic nervous system; pheochromocytomas are tumors of the adrenal medulla, and paragangliomas are extra-adrenal tumors arising from either the sympathetic nervous system or parasympathetic ganglia. It has previously been estimated that approximately 10%-15% of pheochromocytomas are due to hereditary causes. However, our increased understanding of the three hereditary syndromes (neurofibromatosis 1, multiple endocrine neoplasia type 2, and von Hippel-Lindau syndrome) in which pheochromocytoma is found and the recent discovery that mutations in genes in the succinate dehydrogenase family (SDHB and SDHD) predispose to pheochromocytoma have necessitated a re-evaluation of the genetic basis of pheochromocytoma. These studies indicate that the frequency of germline mutations associated with isolated pheochromocytoma is higher than previously estimated, with both hospital-based series and a large population-based series indicating that the frequency of germline mutations in RET, VHL, SDHB, and SDHD taken together approximates 20%. In all patients with pheochromocytoma, including those with known hereditary syndrome or a positive family history, the frequency of germline mutations in these four genes together approaches 30%. Given the frequency of germline mutations, consideration should be given to genetic counseling for all patients with pheochromocytoma and is particularly important for individuals with a positive family history, multifocal disease, or a diagnosis before age 50. Identification of patients with hereditary pheochromocytoma is important because it can guide medical management in mutation-positive patients and their families. This review provides an overview of the known genetic syndromes that are commonly associated with pheochromocytoma, examines recent data on the association of germline mutations in the succinate dehydrogenase gene family with pheochromocytoma, and suggests guidelines for the genetic evaluation of pheochromocytoma patients.
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OBJECTIVE: To investigate the expression of human urotensin II (UII) mRNA in normal adrenal medulla and pheochromocytoma tissues. METHODS: The total RNA of normal adrenal medulla from 9 males who died of accidents and the total RNA of pheochromocytoma tissues resected from 19 patients were extracted. The expression of UII mRNA was studied by reverse transcription-polymerase chain reaction (RT-PCR). UII and its internal control GAPDH were co-amplified in the same tube. Semi-quantitative analysis of the mRNA expression level of UII was carried out based on the ratios of the grey scale of the amplified target band to that of the control band (UII/GAPDH). RESULTS: The amplified product of UII is a 385 bp fragment and 99.7% of the bases were the same as the sequence registered in the GenBank. The UII/GAPDH in the normal adrenal medullae and pheochromocytomas were 0.69 +/- 0.29 (n = 9) and 0.22 +/- 0.18 (n = 19) respectively (P < 0.05). CONCLUSION: Both the normal adrenal medulla and pheochromocytoma express UII mRNA. The expression of UII mRNA is lower in pheochromocytoma than in normal adrenal medulla.