Lecture Problems

Question 1

Polycythemia vera Mutation

Answer 1

• Jak mutation
  
  • Point mutation
  • Function: NR-TK; growth signal

Question 2

Essential Thrombocytosis Mutation

Answer 2

• Jak mutation
  
  • Point mutation
  • Function: NR-TK; growth signal

Question 3

Acute Promyelocytic Leukemia Mutation

Answer 3

• RAR
  
  • balanced translocation: (T15,17)
  • Function: transcriptional repressor
    
    • cells won’t mature

Question 4

Chronic Myelogenous Leukemia Mutation

Answer 4

• BCR-ABL
  
  • balanced translocation: (T9,22)
  • Function: NR-TK; growth signal; DNA repair lost

Question 5

Follicular Lymphoma Mutation

Answer 5

• BCL-2
  
  • Balanced translocation (T14,18)
  • Function: loss of apoptosis

Question 6

Diffuse Large B Cell Lymphoma Mutation

Answer 6

• BCL-6
  
  • Point mutation and balanced translocation: (T3,14)
  • loss of DNA repair survelance: downregulates p53

Question 7

Mantle Cell Lymphoma Mutation

Answer 7

• Cyclin D1
  
  • Balanced translocation: (t11,14)
  • loss of cell cycle check point regulation

Question 8

Burkitt Lymphoma Mutation

Answer 8

• c-MYC
• Balanced translocation (t8,14)
  
  • transcription activator

Question 9

Hairy Cell Leukemia mutation

Answer 9

• BRAF
  
  • point mutation
  • downstream signal activator