t(12;13)(p12;q12-14)

Clinics and Pathology

Disease

chronic myelogenous leukemia (CML) in transformation, myelodysplastic syndrome (MDS), acute non lymphocytic leukemai (ANLL), B and T- acute lymphocytic leukemias (ALL)

Cytogenetics

Probes	The chromosome 13 breakpoint in most myeloid cases falls within YAC 875a8. Other cases are further proximal and may involve CDX2, contained in BAC RP11-328P22. In most lymphoid cases the chromosome 13 breakpoint falls within YAC 879f5.
Additional anomalies	no consistent additional abnormalities

Genes involved and Proteins

Gene Name	ETV6
Location	12p13

Gene Name	CDX2
Location	13q12.3

To be noted

The t(12;13) is heterogeneous at the molecular level. A single case of ANLL has been reported with an ETV6-CDX2 fusion and ectopic expression of normal CDX2 but in the same study two other t(12;13) positive ANLL patients did not have CDX2 involvement. FISH analysis has suggested that the chromosome 13 breakpoints are different in myeloid and lymphoid disease. ETV6 seems to be involved in some cases but not others.

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Contributor(s)

Written	04-2000	Nick CP Cross
		Wessex Regional Genetics Laboratory Salisbury District Hospital Salisbury, SP2 8BJ, UK

Citation

This paper should be referenced as such :

Cross NCP . t(12;13)(p12;q12-14). Atlas Genet Cytogenet Oncol Haematol. April 2000 . URL : http://AtlasGeneticsOncology.org/Anomalies/t1213ID1204.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon May 12 18:13:06 2008

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