t(7;12)(q36;p13)
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