Novel t(2;12)(q31;p13) in a Case of Pediatric T-cell Acute Lymphoblastic Leukemia

Abstract

The role of ETV6 in B-cell acute lymphoblastic leukemia (ALL) has been extensively studied, whereas only rare cases of ETV6 involvement in pediatric T-cell ALL have been described. We report a case of T-cell ALL in a 13-year-old boy with t(2;12)(q31;p13) involving ETV6, resulting in the relocation of the ETV6 from 12p13 to 2q31 locus that harbors the class 1 homeobox gene (HOX) cluster D, which is expressed during the early stages of T-cell development. We report a novel translocation in T-cell ALL highlighting the involvement of ETV6 and potentially the HOXD gene cluster in a case of T-cell ALL.