Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.

@article{Zhou2003GermlineIO,
  title={Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.},
  author={Xiao-ping Zhou and Deborah J Marsh and Carl D. Morrison and Abhik Ray Chaudhury and Marius Maxwell and Guido Reifenberger and Charis Eng},
  journal={American journal of human genetics},
  year={2003},
  volume={73 5},
  pages={1191-8}
}
Lhermitte-Duclos disease (LDD), or dysplastic gangliocytoma of the cerebellum, is an unusual hamartomatous overgrowth disorder. LDD can be familial or, more commonly, sporadic. It has been only recently recognized that LDD may be associated with Cowden syndrome (CS). Over 80% of patients with CS carry germline mutations in PTEN. It remains unclear whether all cases of LDD, even without features of CS, are caused by germline PTEN mutation and whether somatic PTEN mutation occurs in sporadic LDD… CONTINUE READING
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