Literature DB >> 14729526

Rapid development of optic glioma in a patient with hybrid phakomatosis: neurofibromatosis type 1 and tuberous sclerosis.

Sami H Erbay1, Stephen A Oljeski, Rafeeque Bhadelia.   

Abstract

Increased propensity for tumor formation in neurofibromatosis and tuberous sclerosis exists because of defective tumor-suppressor genes. Although different tumor-suppressor genes may be involved in neurofibromatosis and tuberous sclerosis, at the cellular level these genes share rather common enzymatic pathways. We believe these genetic malfunctions have resulted in a cumulative or additive effect for rapid growth of optic glioma in the following unusual case that has hybrid phakomatosis.

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Year:  2004        PMID: 14729526      PMCID: PMC7974167     

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN: 0195-6108            Impact factor:   3.825


  20 in total

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Journal:  AJNR Am J Neuroradiol       Date:  1992 Jul-Aug       Impact factor: 3.825

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Journal:  Genes Chromosomes Cancer       Date:  2000-08       Impact factor: 5.006

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Journal:  Childs Nerv Syst       Date:  1985       Impact factor: 1.475

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Authors:  D H Gutmann
Journal:  Semin Pediatr Neurol       Date:  1998-12       Impact factor: 1.636

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Journal:  Eur J Pediatr       Date:  1991-10       Impact factor: 3.183

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Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

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  3 in total

1.  Hybrid phakomatosis: from initial CT observation to molecular studies.

Authors:  Anna Messori; Ugo Salvolini
Journal:  AJNR Am J Neuroradiol       Date:  2004-08       Impact factor: 3.825

2.  A Potential Role for Felbamate in TSC- and NF1-Related Epilepsy: A Case Report and Review of the Literature.

Authors:  Natanya M Mishal; Dimitrios Arkilo; Ju Tang; John R Crawford; Sonya G Wang
Journal:  Case Rep Neurol Med       Date:  2015-10-22

3.  Co-occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2.

Authors:  Ramón Peces; Rocío Mena; Yolanda Martín; Concepción Hernández; Carlos Peces; Dolores Tellería; Emilio Cuesta; Rafael Selgas; Pablo Lapunzina; Julián Nevado
Journal:  Mol Genet Genomic Med       Date:  2020-06-13       Impact factor: 2.183

  3 in total

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