Genetic Testing for Pheochromocytoma
Author:
Publisher
Springer Science and Business Media LLC
Subject
Internal Medicine
Link
http://link.springer.com/content/pdf/10.1007/s11906-010-0151-1.pdf
Reference49 articles.
1. Koch CA, Vortmeyer AO, Huang SC, et al.: Genetic aspects of pheochromocytoma. Endocr Regul 2001, 35:43–52. Erratum in: Endocr Regul 2001, 35:94.
2. Bryant J, Farmer J, Kessler LJ, et al.: Pheochromocytoma: the expanding genetic differential diagnosis. J Natl Cancer Inst 2003, 95:1196–1204.
3. Benn DE, Robinson BG: Genetic basis of phaeochromocytoma and paraganglioma. Best Pract Res Clin Endocrinol Metab 2006, 20:435–450.
4. •• Burnichon N, Brière JJ, Libé R, et al.: SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet 2010, 19:3011–3020. These authors identified a heterozygous germline SDHA mutation, p.Arg589Trp, in a woman suffering from catecholamine-secreting abdominal PGL. They also investigated 202 PHEOs and PGLs for loss of heterozygosity (LOH) at the SDHA, SDHB, SDHC, and SDHD loci. LOH was detected at the SDHA locus in the patient’s tumor but was present in only 4.5% of a large series of PHEOs and PGLs.
5. •• Hao HX, Khalimonchuk O, Schraders M, et al.: SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 2009, 325:1139–1142. These authors investigated a mitochondrial protein named SDH5, which interacts with the catalytic subunit of the SDH complex. SDH5 is required for SDH-dependent respiration and for SDHA flavination (incorporation of the flavin adenine dinucleotide cofactor). Germline loss-of-function mutations in the human SDH5 gene, located on chromosome 11q13.1, segregate with disease in a family with hereditary PGLs.
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