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- W3147544557 abstract "Clinics and pathology Disease The t(5;12)(q31;p13) translocation involving ETV6 (12p13) and ACSL6 (5q31) was found in a patient with refractory anemia with excess blasts (RAEB) with basophilia, a patient with acute myelogenous leukemia (AML) with eosinophilia, and a patient with acute eosinophilic leukemia (AEL). Phenotype / cell stem origin Myeloid lineage. Epidemiology To date, one case with myelodysplastic syndrome (RAEB), one case with AML, one case with AEL, one case with atypical CML, and 2 cases with Polycythemia Vera (PV). The t(5;12)(q31;p13) is a recurrent translocation in myeloid malignancies (at least 23 cases reported). Prognosis No prognostic value established. Cytogenetics Cytogenetics morphological May be not easy to detect. Cytogenetics molecular The translocation can be detected by FISH with ETV6 probes. The ETV6 gene is rearranged, and the breakpoint is between exon 1 and exon 2 in all cases reported. Additional anomalies Disruption of the second ETV6 allele by t(12;19) was detected in the AML case by FISH analysis. Variants No variants." @default.
- W3147544557 created "2021-04-13" @default.
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- W3147544557 date "2011-01-01" @default.
- W3147544557 modified "2023-09-24" @default.
- W3147544557 title "t(5;12)(q31;p13) in MDS, AML and AEL" @default.
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