PMC3919885_01
GTG-banding revealed the following karyotype: 47,XX,+8,t(3;12). All derivative chromosomes are highlighted by arrowheads.
OL-07-03-0787-g00.jpg
PMC3919885_01_OL-07-03-0787-g00.jpg
f1-ol-07-03-0787
Karyotyping was performed prior to chemotherapy and the result was 47,XX,+8,t(3;12)[18]/47,XX,+8[2] (Fig. 1).
Metaphase fluorescence in situ hybridization using CEP(3) (#3) and CEP(12) (#12) probes, along with the TEL/AML1 translocation dual fusion probe, confirmed an involvement of chromosome 3 with chromosome 12 in this case. A TEL (ETV6) signal was located on der(3). CEP, chromosome enumeration probe; #, chromosome; der, derivative chromosome.
OL-07-03-0787-g01.jpg
PMC3919885_01_OL-07-03-0787-g01.jpg
f2-ol-07-03-0787
This observation was further confirmed by molecular cytogenetic studies (Fig. 2). TEL/AML1 translocation probe (Fig. 2). Thus, the following final karyotype was obtained: 47,XX,+8,t(3;12)(q26;p13)[18]/47,XX,+8[2].
Gel electrophoresis of multiplex reverse transcription-polymerase chain reaction products from the present case. Lanes 1, negative control; 2, internal control (beta2-microglobulin; 535 bp) and 3, ETV6-MDS1-EVI1 fusion transcript (144 bp). MDS1, myelodysplastic syndrome; EVI1, ectopic viral integration site 1.
OL-07-03-0787-g02.jpg
PMC3919885_01_OL-07-03-0787-g02.jpg
f3-ol-07-03-0787