Cysteine Rich Hydrophobic Domain Protein 2 (CHIC2)

The rearrangements fuse ETV6 to a wide variety of partner genes in both myeloid and lymphoid malignancies. Cools et al. (1999) reported 4 cases of acute myeloid leukemia with very immature myeloblasts and a t(4;12)(q11-q12;p13). In all cases, ETV6 was found to be recombined with a novel gene homologous to the mouse Brx gene; the authors therefore named the gene 'Brx-like translocated in leukemia,' or BTL. RT-PCR experiments indicated that expression of the BTL-ETV6 transcript but not of the reciprocal ETV6-BTL transcript is a common finding in these leukemias. In contrast to most of the other ETV6 fusions, both the complete helix-loop-helix and ETS DNA-binding domains of ETV6 are present in the predicted BTL-ETV6 fusion protein, and a chimeric gene is transcribed from the BTL promoter.