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Acute myeloid leukemia infants have high incidence of t(7;12)(q36;p13)

09-19-2006

According to a study from Netherlands, "The t(7; 12)(q36;p13) is a recurrent translocation involving the ETV6/TEL gene (12p13) and a heterogeneous breakpoint at 7q36. A fusion transcript between HLXB9 and ETV6 in AML with t(7; 12) is occasionally found."

"To study the incidence of t(7; 12) in infant and childhood acute leukemia, we screened 320 cases <36 months using FISH. Additionally, 28 pediatric cases >36 months with cytogenetic breakpoints at 12p and 7q were investigated. We studied the presence of an HXLB9-ETV6 fusion transcript and quantified the expression of various genes located in the 7q36 breakpoint region," explained A.R.M. Vonbergh and colleagues, Erasmus Medical Center.

"In total, 6 AML patients carried the t(7; 12) of which 5 were infants and 1 child of 18 months. Only 1 out of 99 infant ALL patients harbored the t(7; 12). No t(7;12) was found in older children with AML or ALL. AML patients carrying a t(7; 12) had a poor outcome with a 3-year EFS of 0%. A fusion of HLXB9 to ETV6 was found in 4 AML cases with t(7;12).

"The 7q36 genes NOM 1, LMBR1, RNF32, and SHH were equally expressed among t(7; 12)-positive AML versus t(7;12)-negative AML, t(7;12)-negative ALL, or normal bone marrow. However, the HLXB9 expression was highly increased in t(7;12)-positive cases, including those with an HLXB9-ETV6 fusion," found the investigators.

The researchers concluded that "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. 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."

Vonbergh and colleagues published the results of their research in Genes Chromosomes & Cancer (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;45(8):731-739).

For additional information, contact A.R.M. Vonbergh, Erasmus Medical Center, Dept. of Clinic Genetics, Dr. Molewaterpl 50, NL-3015 GE Rotterdam, Netherlands.

The publisher of the journal Genes Chromosomes & Cancer can be contacted at: Wiley-Liss, Division John Wiley & Sons Inc., 111 River St., Hoboken, NJ 07030, USA.

Keywords: Rotterdam, Netherlands, Bone Marrow, Genetics, Oncology, Pediatric, Infants, Acute Myeloid Leukemia, t(7;12)(q36;p13).

This article was prepared by Clinical Oncology Week editors from staff and other reports. Copyright 2006, Clinical Oncology Week via NewsRx.com.