Japanese Journal of Cancer Research · 2001 · 44 citations · 16 references
MedicineGeneticsMolecular GeneticsCytogeneticsMolecular OncologyNeoplasiaCancer CytogeneticsCancer Molecular PathologyGene Fusions In CancerUterine FibroidsUterine LeiomyomaUterine PathologyAmplificationBenign Mesenchymal TumorsRadiation Hybrid MappingReproductive Age WomenTumor-specific Fusion GenesUterine Leiomyoma CharacterizationUterine Mesenchymal TumorsUterine Smooth Muscle Tumors
Uterine leiomyoma, a benign smooth-muscle tumor of the myometrium, is the most commonly encountered neoplasm in women of reproductive age. Band q15 of chromosome 12 is often rearranged in benign mesenchymal tumors such as uterine leiomyomas, and the HMGIC gene, encoding a protein of the high-mobility-group (HMG), is present in that region. Using 3' rapid amplification of cDNA ends (3'RACE) experiments, we isolated an ectopic sequence that was fused to HMGIC in a uterine leiomyoma. Cloning of the fusion cDNA identified a gene termed rising dbl quote, left (low)homo sapiens enhancer of invasion 10" (HEI10) as the fusion partner. Radiation hybrid mapping revealed that the normal location of HEI10 is at 14q11. In the fusion transcript the first two exons of the HMGIC gene, which encode DNA-binding domains, were fused to the 3' portion of the HEI10 gene. This rearrangement implicates HMGIC in the tumorigenesis of uterine leiomyoma, and suggests that its fusion HMGIC product may play a role in mesenchymal differentiation.
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