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C99676Level 4

ACSL6/ETV6 Fusion Gene

**Semantic type:** Gene or Genome

**Definition:** A fusion gene that results from a chromosomal translocation t(5;12)(q31;p13) which fuses the 5' portion of the ACSL6 gene and the 3' portion of the ETV6 gene. In a patient with acute myelogenous leukemia with eosinophilia, this rearrangement fused exons 1-9 of the ACSL6 gene to either intron 2 or exon 3 of the ETV6 gene and does not produce a fusion protein. In one patient with refractory anemia with excess blasts with basophilia, this rearrangement fused exon 19 of the ACSL6 gene with a site within exon 1 of the ETV6 gene and could result in the production of a fusion protein.

**Synonyms:** - ACS2-ETV6 Fusion Gene - ACS2/ETV6 Fusion Gene - ACSL6-ETV6 Fusion Gene - ACSL6::ETV6 Fusion Gene - FACL6-ETV6 Fusion Gene - FACL6/ETV6 Fusion Gene

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