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Figure 4 | Molecular Cytogenetics

Figure 4

From: Myeloproliferative neoplasm with ETV6-ABL1 fusion: a case report and literature review

Figure 4

Formation of a fusion between the ABL1 and ETV6 genes with opposite chromosomal orientation via two events: (i) firstly, a balanced t(9;12)(q34;p13) results in the juxtaposition of part of the ETV6 gene (exons 1-5) in the vicinity of NOTCH1 at 9q34.3 on der(9)t(9;12) while ABL1 remains intact followed by (ii) an inversion within the 9q34 segment of der(9)t(9;12) after breaks at 9q34.12 (within ABL1 , upstream of exon 2) and 9q34.3. This leads to formation of an ETV6-ABL1 fusion gene but leaves the NOTCH1 gene intact.

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