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Pheochromocytoma and Paraganglioma Treatment (PDQ®)

  • Posted: 10/22/2010
  • Updated: 10/24/2013

Table 1. Major Genetic Syndromes That Carry an Increased Risk of Pheochromocytoma

Genetic Syndrome or Condition  Affected Gene Comment 
Multiple endocrine neoplasia type 2A and 2BRET (Refer to the Pheochromocytoma section in the PDQ summary on the Genetics of Endocrine and Neuroendocrine Neoplasias for more information.)
von Hippel-Lindau diseaseVHL
Neurofibromatosis type 1NF1
Hereditary Paraganglioma SyndromeSDHD [11]Formerly referred to as familial pheochromocytoma-paraganglioma syndrome type 1
SDHAF2 (SDH5) [12]Formerly referred to as familial pheochromocytoma-paraganglioma syndrome type 2
SDHC [13]Formerly referred to as familial pheochromocytoma-paraganglioma syndrome type 3
SDHB [14]Formerly referred to as familial pheochromocytoma-paraganglioma syndrome type 4
SDHA [15]

References

  1. Baysal BE, Ferrell RE, Willett-Brozick JE, et al.: Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287 (5454): 848-51, 2000.  [PUBMED Abstract]

  2. Hao HX, Khalimonchuk O, Schraders M, et al.: SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 325 (5944): 1139-42, 2009.  [PUBMED Abstract]

  3. Niemann S, Müller U: Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26 (3): 268-70, 2000.  [PUBMED Abstract]

  4. Astuti D, Latif F, Dallol A, et al.: Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 69 (1): 49-54, 2001.  [PUBMED Abstract]

  5. Burnichon N, Brière JJ, Libé R, et al.: SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet 19 (15): 3011-20, 2010.  [PUBMED Abstract]