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Figure 3 | Molecular Cytogenetics

Figure 3

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

Figure 3

Representative cells with FISH signals showing the cryptic three way rearrangement of ABL1, NOTCH1 and ETV6 associated with t(9;12)(q34;p13). BAC clones covering the regions of interest are as follows: ABL1 (RP11-83 J21 & RP11-57C19, in red), NOTCH1 (RP11-707O3&RP11-678D10, in blue) and ETV6 (RP11-418C2 & RP11-36 K5, in green) (a) FISH signals from all three genes - ETV6, ABL1 and NOTCH1 - cluster at der(9)t(9;12) in a metaphase cell (arrows) (b) in a non-dividing cell the ETV6 (exons 1-5)/ABL1 (exons 2-11) fusion(green/red arrow) is separated from the co-localized ABL1 (exons 1b-2) and NOTCH1 signals (red/blue arrows); while ABL1 and NOTCH1 signals (~5.6 Mb apart) mark the normal 9 homologue and signals from ETV6 (green) and RP11-678D10 (downstream of NOTCH1, blue) co-hybridize at der(12)t(9;12).

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