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Summary Molecular Genetica (Laura)

Course
- Molecular Genetica (laura)
- van Nes J
- 2021 - 2022
- Universiteit van Amsterdam
- Biomedische Wetenschappen
53 Flashcards & Notes
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A snapshot of the summary - Molecular Genetica (laura)

  • 1 Clinical characteristics, biology and genetics of neuroblastoma

  • 1.1 Clinical characteristics of neuroblastoma

    This is a preview. There are 2 more flashcards available for chapter 1.1

  • 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

    This is a preview. There are 2 more flashcards available for chapter 1.2

  • 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

    This is a preview. There are 1 more flashcards available for chapter 2

  • 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  
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