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Neurofibromatosis 1

Neurofibromatosis 1. Valerie Khodush March 27, 2007. NF-1 Overview. Incidence – 1:3500 Von Reckinghausen Disease Tumor pre-disposing disease Protein: neurofibromin (220-250kDa) Tumor suppressor. http://www.embl.de/groupOrProgrammeImage/285.jpg. Remember Ras. Gilbert Fig. 6.14.

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Neurofibromatosis 1

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  1. Neurofibromatosis 1 Valerie Khodush March 27, 2007

  2. NF-1 Overview • Incidence – 1:3500 • Von Reckinghausen Disease • Tumor pre-disposing disease • Protein: neurofibromin (220-250kDa) • Tumor suppressor http://www.embl.de/groupOrProgrammeImage/285.jpg

  3. Remember Ras Gilbert Fig. 6.14

  4. NF1 is a Ras-Gap http://www.charite.de/ch/medgen/eumedis/embryology04/neurocutan-disorders/Slide4.png

  5. Mouse Knockout • Embryonic lethal at E12.5 to E13.5 • Cardiovascular problems • Organ development

  6. Mouse Knockout • Heterozygous mice develop different cancers • Learning and spatial memory • Double mutants (NF1+/- & p53+/-)

  7. Neurofibromin • Chromosome 17 http://ghr.nlm.nih.gov/dynamicImages/chromomap/nf1.jpeg

  8. Neurofibromin • Chromosome 17 • Similar to Rb function http://ghr.nlm.nih.gov/dynamicImages/chromomap/nf1.jpeg

  9. Neurofibromin • Chromosome 17 • Similar to Rb function • Dominant versus recessive http://ghr.nlm.nih.gov/dynamicImages/chromomap/nf1.jpeg

  10. Neurofibromin • Chromosome 17 • Similar to Rb function • Dominant versus recessive • Familial/de novo inheritance or spontaneous mutations http://ghr.nlm.nih.gov/dynamicImages/chromomap/nf1.jpeg

  11. Neurofibromin • Chromosome 17 • Similar to Rb function • Dominant versus recessive • Familial/de novo inheritance or spontaneous mutations • Schwann cells/ LOH http://ghr.nlm.nih.gov/dynamicImages/chromomap/nf1.jpeg

  12. Neurofibromin • Chromosome 17 • Similar to Rb function • Dominant versus recessive • Familial/de novo inheritance or spontaneous mutations • Schwann cells/ LOH • Isoforms http://ghr.nlm.nih.gov/dynamicImages/chromomap/nf1.jpeg

  13. Neurofibromatosis • Predisposition to nervous system tumors http://missinglink.ucsf.edu/lm/DermatologyGlossary/neurofibroma.html

  14. Neurofibromatosis • Predisposition to nervous system tumors • Learning disabilities http://www.sciencedaily.com/releases/2005/11/051111103003.htm

  15. Neurofibromatosis • Predisposition to nervous system tumors • Learning disabilities • Skeletal abnormalities http://www.espine.com/adolescent-scoliosis.htm

  16. Neurofibromatosis • Predisposition to nervous system tumors • Learning disabilities • Skeletal abnormalities • Skin discoloration http://purplemoongarden.wordpress.com/2006/02/18/neurofibromatosis-type-1-life-with-tumors-lumpies-nubbies-bumpies-and-nodules/

  17. Neurofibromatosis • Predisposition to nervous system tumors • Learning disabilities • Skeletal abnormalities • Skin discoloration • Lisch nodules http://www.emedicine.com/oph/images/33210Lisch_Nodule_Clinical.jpg

  18. Neurofibromatosis • Predisposition to nervous system tumors • Learning disabilities • Skeletal abnormalities • Skin discoloration • Lisch nodules • Optic nerve tumors http://moon.ouhsc.edu/kfung/jty1/Com04/Com04Image/Com412-1-06.gif

  19. NF1 and Cancer • Nervous system tumors Harrisingh & Lloyd Fig. 1

  20. NF1 and Cancer • Nervous system tumors • Neurofibroma versus plexiform neurofibrom Harrisingh & Lloyd Fig. 1

  21. NF1 and Cancer • Nervous system tumors • Neurofibroma versus plexiform neurofibrom • Malignant Peripheral Nerve Sheath Tumor Harrisingh & Lloyd Fig. 1

  22. NF1 and Cancer • Nervous system tumors • Neurofibroma versus plexiform neurofibrom • Malignant Peripheral Nerve Sheath Tumor • Multiple mutations involved Harrisingh & Lloyd Fig. 1

  23. Treatments • Surgery • Back Braces • Radiation • Chemotherapy http://www.wramc.army.mil/departments/Ortho/Ortho1/Images/Back_brace.jpg

  24. QUESTIONS

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