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t(5;12)(q23–31;p13) with ETV6-ACSL6 gene fusion in polycythemia vera

✍ Scribed by Murati, A; Adélaïde, J; Gelsi-Boyer, V; Etienne, A; Rémy, V; Fezoui, H; Sainty, D; Xerri, L; Vey, N; Olschwang, S

Book ID
110056714
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
181 KB
Volume
20
Category
Article
ISSN
0887-6924

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We identified a novel human long fatty acyl CoA synthetase 2 gene, ACS2, as a new ETV6 fusion partner gene in a recurrent t(5;12)(q31;p13) translocation in a patient with refractory anemia with excess blasts (RAEB) with basophilia, a patient with acute myelogenous leukemia (AML) with eosinophilia, a

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ETV6 (TEL) is rearranged in various types of hematologic malignancies. The B-cell precursor acute lymphoblastic leukemia (ALL) cell line SUP-B2 has a t(6;12)(q23;p13) involving ETV6 at 12p13 and a submicroscopic deletion of the other ETV6 allele. The reciprocal translocation results in the fusion of