Haematological Malignancies: Genetics

Key points

• Below is a brief summary of the common translocations associated with haematological malignancies t(9;22) - Philadelphia chromosome
• present in > 95% of patients with CML
• this results in part of the Abelson proto-oncogene being moved to the BCR gene on chromosome 22
• the resulting BCR-ABL gene codes for a fusion protein which has tyrosine kinase activity in excess of normal
• poor prognostic indicator in ALL t(15;17)