Summary: Molecular Genetica (Laura)

Read the summary and the most important questions on Molecular Genetica (laura)

• 1 Clinical characteristics, biology and genetics of neuroblastoma

• 1.1 Clinical characteristics of neuroblastoma

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• What are the stages of Neuroblastoma?

  The stages do NOT inidcate the progression stages
  

  • Stage 1 (primary tumor): no dissemination (verspreiding)
  • Stage 2 (pt): loco-regional metastasis
  • Stage 3 (pt): loco-regional metastasis crossing the midline
  • Stage 4 (pt): distant metastasis (bone, bone marrow, liver)
  • Stage 4S (pt): distant metastasis limited to skin and liver

  
  Usually no prognosis from stage 1/2 to stage3/4

• What is the treatment procedure?

  Diagnosis -Chemotherapy (combination of them) - Surgery - Stem cell transplantation - consolidation therapy (Differentiation therapy: Retinoic acid or Immuno therapy: GD2 antibody)

• What is the survival rate/progression of the cancer?

  The survival rate of stage 4 is improved but still not cured, other stages have a better survival. 
  

  • pt: initial responds to therapy (tumor decreases)
  • relapse: tumor resistant to ANY therapy (tumor increases)

• 1.2 Developmental origin

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• What is the origin of neuroblastoma?

  Neuroblastoma originates from the sympatho-adrenal lineage and are the precursor of adrenaline producing cells

• What causes the change of a normal cel to a lineage-committed precursor?

  From the neural crest, the sympatho-adrenal precursor undergo a EMT

• 2 Gene mutations cause cancer

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• What are the 3 assays to identify oncogene?

  1. Retroviruses
     
  2. Chromosomal translocations in tumoren
     
  3. functional assays

• Difference between oncogene and tumor suppressor genes?

  1 oncogen mutation = cancer (mutation)
  2 loss of tumor suppressor = cancer (mutation, deletion)

• What are the bioinformatic data processing steps?

  Bioinformatic data processing:
  

  1. genome alignment and reconstruction
  • map to reference genoom
  2. somatic variant identification
  • identify differences (SNP)
  3. copy number identification
     
  • aantal chromosomen aanwezig
  4. structural variant identification
     
  5. condensing information for interpretation (circus plot)

• 3 Genetic defects in cancer

• Genomic defects in Neuroblastoma?

  • Occurs in children, very few mutations
    
  • no tumor suppressor genes inactivated by chromosomal deletions
  • chromosomal deletions are frequent
  • chromosomal gains and losses 

• How can specific combination of chromosomal gains and losses cause cancer?

  Copy number matter

  • chromosomal copy number imbalance may play arol in cancer (pattern)
  • could have exponential regulatory effect 
  • the chromosomal deletion deactivates a protein which makes the downstream more active. The chromosomal gain activates even more the downstream pathways which causes more activation in total