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Tumor Susceptibility in Proteus Syndrome: a Case Report

Tumor Susceptibility in Proteus Syndrome: a Case Report
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摘要 PROTEUS syndrome is characterized by patchy and progressive overgrowth affecting multiple tissues, including bone, soft tissue, and skin, along with susceptibility to the development oftumors. It was originally described by Cohen and Hayden in 19791 and named by Wiedmann in 1983.2 The cause of Proteus syndrome is proposed to be a somatic mutation that is lethal in non-mosaic state; cells derived from the mutated cell line carrying this mutation result in anomalies in multiple tissues.3 The clinical manifestations are variable,
作者 Wei Ma Wen Tian
出处 《Chinese Medical Sciences Journal》 CAS CSCD 2014年第2期120-121,共2页 中国医学科学杂志(英文版)
关键词 Proteus syndrome somatic mutation tumor susceptibility 变形杆菌 综合症 病例报告 体细胞突变 肿瘤 软组织 生长影响 临床表现
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参考文献5

  • 1Cohen MM Jr, Hayden PW. A newly recognized hamar- tomatous syndrome. Birth Defects Orig Artic Ser 1979, 15:291-6.
  • 2Wiedemann HR, Burgio GR, Aldenhoff P, et al. The Proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, mac- rocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr 1983, 140:5-12.
  • 3Cohen MM Jr. Proteus syndrome: an update. Am J Med Genet C Semin Med Genet 2005, 137C:38-52.
  • 4Vazquez F, Ramaswamy D, Nakamura N, et al. Phospho- rylation of the PTEN tail regulates protein stability and function. Mol Cell Biol 2000, 20:5010-8.
  • 5Lindhurst M J, Sapp JC, Teer JK, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011, 365: 611-9.

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