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t(7;12)(q36;p13)

Sunday 16 September 2007

The t(7;12)(q36;p13) is a recurrent translocation involving the ETV6 (TEL) gene at 12p13 and a heterogeneous breakpoint at 7q36.

A fusion transcript between HLXB9 and ETV6 in AML with t(7;12) is occasionally found.

The t(7;12) is almost exclusively present in infant AML and covers 30% of infant AML, while it is extremely rare in infant ALL and older children. (16646086)

The t(7;12) is associated with a poor outcome and an ectopic expression of HLXB9 is commonly involved in this genetic subtype of leukemia. (16646086)

Pathology

- HLXB9/ETV6 fusion protein by t(7;12)(q36;p13) in infant acute myeloid leukemia (11454678, 12939747)

References

- von Bergh AR, van Drunen E, van Wering ER, van Zutven LJ, Hainmann I, Lonnerholm G, Meijerink JP, Pieters R, Beverloo HB. High incidence of t(7;12)(q36;p13) in infant AML but not in infant ALL, with a dismal outcome and ectopic expression of HLXB9. Genes Chromosomes Cancer. 2006 Aug;45(8):731-9. PMID: 16646086