Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21).

Abstract	Extraskeletal myxoid chondrosarcomas (EMCs) are characterized by recurrent t(9;22) or t(9;17) translocations resulting in fusions of the NH2-terminal transactivation domains of EWS or TAF2N to the entire TEC protein. We report here an EMC with a novel translocation t(9; 15)(q22;q21) and a third type of TEC-containing fusion gene. The chimeric transcript encodes a protein in which the first 108 amino acids of the NH2-terminus of the basic helix-loop-helix (bHLH) protein TCF12 is linked to the entire TEC protein. The translocation separates the NH2-terminal domain of TCF12 from the bHLH domain as well as from a potential leucine zipper domain located immediately downstream of the breakpoint. These results demonstrate that the NH2-terminal transactivation domains of EWS or TAF2N are not unique in their ability to convert the TEC protein into an oncogenically active fusion protein, and that they may be replaced by a domain from a bHLH protein that presumably endows the fusion protein with similar functions.
Authors	H Sjögren, B Wedell, J M Meis-Kindblom, L G Kindblom, G Stenman, J M Kindblom
Journal	Cancer research (Cancer Res) Vol. 60 Issue 24 Pg. 6832-5 (Dec 15 2000) ISSN: 0008-5472 [Print] United States
PMID	11156374 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	Basic Helix-Loop-Helix Transcription Factors DNA-Binding Proteins NR4A3 protein, human Nerve Tissue Proteins Nuclear Proteins Receptors, Steroid Receptors, Thyroid Hormone Transcription Factors TCF12 protein, human
Topics	Aged Amino Acid Sequence Base Sequence Basic Helix-Loop-Helix Transcription Factors Cells, Cultured Chondrosarcoma (genetics, metabolism) Chromosome Banding Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 9 Cytoplasm (metabolism) DNA-Binding Proteins (chemistry, metabolism) Helix-Loop-Helix Motifs Humans Male Molecular Sequence Data Muscle Neoplasms (genetics, metabolism) Nerve Tissue Proteins Nuclear Proteins (chemistry, metabolism) Protein Binding Protein Structure, Tertiary Receptors, Steroid Receptors, Thyroid Hormone Reverse Transcriptase Polymerase Chain Reaction Sequence Analysis, DNA Transcription Factors (chemistry, metabolism) Translocation, Genetic

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