1. Blood Cancer & Chromosome 21 By Manasi Shah

2. Core Binding Factor Acute Myeloid Leukemia (CBF-AML) AML is a type of cancer that affects bone marrow and blood cells Caused by a translocation between chromosome 8 and chromosome 21 The translocation causes a fusion of two genes, resulting in a protein complex

4. What Usually Happens… Chromosome 21’s RUNX1 gene makes the RUNX1 protein which binds to other genes to turn on their expression In this case it binds to the CBFB gene and the core binding factor (CBF) is formed CBF binds to DNA to control hematopoiesis (development of blood cells, specifically hematopoietic stem cells) Chromosome 8 has a gene called RUNX1T1 which codes for the production of the ETO protein – This protein’s job is to help suppress gene expression

5. In CBF-AML Protein produced by the translocation is a complex protein known as RUNX1-ETO The protein allows the production of CBF but the RUNX1T1 causes CBF to turn off genes instead of turning them on so the blood cells do not develop – They become immature white blood cells called myeloid blasts

6. Symptoms Hematopoietic stem cells develop into – Red blood cells which carry oxygen – White blood cells which help the immune system and make up part of the bone marrow – Platelets which help with blood clotting Individual can have a weakened immune system, anemia, fatigue and weakness, easy bruising and internal bleeding

7. Other Facts Prognosis is good compared to other forms of myeloid leukemia, however many patients relapse Other mutations and translocations of the RUNX1 gene have been known to cause other forms of leukemia and blood disorders Mutations within the somatic cells (body cells) of the body not the gametes (which are passed on from your parents) – This means that the condition is not genetically inherited, it develops throughout the lifetime

8. References http://www.hematology.org/Patients/Basics/ http://ghr.nlm.nih.gov/condition/core- binding-factor-acute-myeloid-leukemia http://ghr.nlm.nih.gov/condition/core- binding-factor-acute-myeloid-leukemia http://ghr.nlm.nih.gov/gene/RUNX1