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t(9;22)(q34;q11)

Friday 9 December 2005

The t(9;22)(q34;q11) translocation occurs in chronic myeloid leukemia (CML) and adult B-cell acute lymphoblastic leukemia (ALL), leading to fusion of BCR to ABL1 and constitutive activation of ABL1 tyrosine kinase activity.

The main BCR-ABL1 breakpoints result in P190 BCR-ABL1 or P210 BCR-ABL1 fusion proteins. The latter is found in almost all cases of CML and in one third of the cases of t(9;22)-positive adult B-ALL. P190 BCR-ABL1 is found in the remaining two thirds of t(9;22)-positive adult B-ALL cases but only exceptionally in CML.

ABL1 at 9q34 and BCR at 22q11

Tumors

- chronic myelogenous leukemia (CML) ( 100%) (AGCOH)

- acute lymphoblastic leukemias (ALLs) (AGCOH)

- acute non-lymphoblastic leukemias (ANLLs) (3%) (AGCOH)

Constitutive activation of tyrosine kinases by mutations or fusions as BCR-ABL1 could be associated with deregulation of transcription factors central to myeloid differentiation (HOXA9 secondary to PICALM-MLLT10).

Associatiuons

- overexpression of HOXA9 (16518848)

  • HOXA9 is a gene essential to myeloid differentiation that is expressed in PICALM-MLLT10 and MLL-rearranged acute leukemias. (16518848)

See also

- Oncobase
- leukemia-associated translocations
- tumoral translocations