PMC5499781_01
Cytogenetic analysis.. Notes: Chromosome analysis by G banding showing a complex, four-way (4;9;22;21)(q24;q34;q11;q22) Philadelphia chromosome translocation and an additional chromosomal aberration t(1;20)(p36;p11). Of the two chromosomes 21, is visible only the normal one; the other is split among 4,9 and 22 chromosomes. Arrows indicate rearranged chromosomes.
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The cytogenetic analysis performed on 20 metaphase cells identified the presence of a complex, four-way (4;9;22;21)(q24;q34;q11;q22) Ph chromosome translocation (Figure 1) and an additional chromosomal aberration t(1;20)(p36;p11).
FISH analyses with Bcr and Abl probes.. Note: Interphase nuclei showing one BCR/ABL fusion signal (orange/green spot), a normal Abl signal (orange large spot), a normal Bcr signal (green large spot), and the splitting of the reciprocal Bcr/Abl fusion signal into one small orange and one small green spot due to the further rearrangements of chromosomes 9 and 22.. Abbreviation: FISH, fluorescence in situ hybridization.
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FISH analysis using a BCR/ABL dual color dual fusion probe (Figure 2), showed the presence of a variant BCR/ABL translocation in approximately 80% of interphase nuclei with a single fusion signal; two BCR and two ABL signals showing the splitting of one of the two expected fusion signals, thus suggested the involvement of additional chromosomes and, therefore, we extended the analysis to metaphase spreads.
FISH analyses with chromosomes 4 and 22 probes.. Notes: Image showing the results of FISH on a metaphase spread, with painting probes for chromosomes 4 (orange) and 22 (aqua). The yellow arrows indicate normal chromosome 4 (orange - in the upper), residual chromosome 4 (orange - in the middle) and chromosome 22 (aqua); the red arrow indicates derivative chromosome 4 (orange + aqua).. Abbreviation: FISH, fluorescence in situ hybridization.
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Painting probes for chromosomes 4 and 22 confirmed the presence of a translocation involving chromosomes 4 and 22, generating two derivative chromosomes, one normal chromosome 4 and one normal 22 (Figure 3).