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ALL / Haematology

Haematological malignancies: genetics

Haematological malignancies: genetics

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)
  • seen in acute promyelocytic leukaemia (M3)
  • fusion of PML and RAR-alpha genes

t(8;14)
  • seen in Burkitt's lymphoma
  • MYC oncogene is translocated to an immunoglobulin gene

t(11;14)
  • Mantle cell lymphoma
  • deregulation of the cyclin D1 (BCL-1) gene

t(14;18)
  • follicular lymphoma
  • increased BCL-2 transcription
+PassMedicine Notes

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)
  • seen in acute promyelocytic leukaemia (M3)
  • fusion of PML and RAR-alpha genes
t(8;14)
  • seen in Burkitt's lymphoma
  • MYC oncogene is translocated to an immunoglobulin gene
t(11;14)
  • Mantle cell lymphoma
  • deregulation of the cyclin D1 (BCL-1) gene
t(14;18)
  • follicular lymphoma
  • increased BCL-2 transcription


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