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Summary Human Pathology

Course
- Human Pathology
- 2021 - 2022
- Radboud Universiteit Nijmegen
- Biologie
334 Flashcards & Notes
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A snapshot of the summary - Human Pathology

  • Neoplasia 1.1 & 1.2 - Pathology and genetic background of skin tumours

  • Which two type neoplasms are there?
    Benign and Malignant neoplasm
  • Characteristics of benign neoplasm
    • Only local growth
    • no invasion in other tissue
    • no metastases
    • often slowly growing
    • cell without 'atypia'
  • Characteristics of Malignant neoplasm
    • Invasion into other tissue
    • can metastasise
    • often rapid cellular growth, mitosis and meiosis
    • cell with 'atypia' 
  • Types of genetic alterations leading to neoplasia:
    • Mutations
    • structural chromosomal alterations translocations
    • copy number variations: losses or gains of parts or whole chromosomes.
    • viral transformation (not discussed in detail)
  • Mutation = a nucleotide change in DNA
    forms of mutations: 
    Substitution 

    Frameshift:
    insertion
    deletion
  • 3 types of genes can be involved in oncogenesis:
    1. (proto)oncogenes
    • funcion: promotion of cell proliferation and survival
    • mutation/amplification: gain of function/ activation/ over expression

    2. tumor suppressor genes
    • Function: inhibition of cell proliferation of induction of apoptosis
    • Mutation/loss: inactivation/loss of function
    3. mutation / mismatch repair genes

    • Function: repair of DNA replication errors
    • Mutation: loss of function (accumulation of DNA errors)
  • Two types of mutations are:
    Somatic
    • acquired
    • present only in certain cells of the body, dependent on cause
    • e.g. UV induced TP53 mutation in epithelial cells of the skin

    Germline mutations
    • Hereditary, congenital
    • present in all cells of the body
  • What are some simple alterations of Benign neoplasia's?
    • Most common nevi (moles) have only one mutation. 60% BRAF, 20% NRAS
    • Spitz nevi (non pigmented moles in children) have one chromosomal translocation. ALK, ROS of NTRK translocation
    • Some spitz nevi have one HRAS mutation and one gain of chromosome 11p
  • Cancer is a multistep process: clonal evolution model
    • Several mutations (usually at least 6 steps) in different genes controlling cell growth, different and death.
    • often starting with a precancerous genetic change
    • addition genetic changes lead to cancerous growth
      • autonomous cell proliferation
      • loss of cell contact inhibition: invasion occurs
      • new vessels develop
      • growth in to vessels and metastasis can occur
  • What is the largest organ of the body?
    The skin. About 4 kg. That's why skin cancer rising, life long exposure to UV light.
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