A bone marrow biopsy showed a hypercellular marrow extensively involved by sheets of lymphoblasts. These findings are con sistent that has a diagnosis of B lymphoblastic leukemia. The patient was quickly began on induction chemother apy with AALL0232 large chance ALL chemotherapy proto col. A stick to up bone marrow biopsy on day 29 showed minimal residual illness. A ordinary karyotype was observed in all metaphase cells examined and reduction of one copy in the 5 IGH was the only abnormality detected in 2. 7% from the interphase nuclei studied. The patient subsequently was provided therapy per clinical trial AALL0031 and accomplished main remission. Most just lately, the patient re ceived an effective allogeneic bone marrow transplant from a female donor.
Methods selleck Cytogenetics Chromosome evaluation was carried out using conventional cytogenetic methods on bone marrow and peripheral blood, analyzing 20 metaphase cells. Karyotypes had been ready applying Applied Imaging CytoVision computer software 2013 nomenclature. FISH Fluorescence in situ hybridization was performed on interphase nuclei and previously G banded metaphases working with the RP11 927H16 Spectrum Green JAK2 probe and the following probes, Vysis LSI MLL Dual Colour Break Apart Probe, Vysis LSI ETV6 Dual Shade Break Apart, Vysis LSI ETV6 RUNX1 ES Dual Color Translocation Probe Set and Vysis LSI IGH Dual Color, Break Apart Rearrangement Probe from Abbott Molecular. Findings Cytogenetics Chromosome examination on the bone marrow showed five of twenty cells with an MLL insertion on 6q27 at the same time being a bal anced translocation among 9p24 and 12p11. 2.
The identical abnormalities were noticed on a karyotype per formed on peripheral blood, even though at a reduced frequency. In light with the FISH findings the karyotype on the bone marrow of this patient was described as, 46,XY,ins,t, 46,XY. FISH FISH analysis making use of interphase discover this nuclei showed MLL split signals in 23. 6% from the nuclei examined, suggestive of an MLL gene rearrangement. How ever, FISH carried out on previously G banded metaphases also assisted to determine two separate clonal populations with different MLL abnormalities, a single with an MLL rearrange ment described over and one with an MLL insertion on chromosome 6q27. Moreover, a deletion with the five IGHregion, corresponding towards the variable section from the IGHwas seen in 88. 3% with the nuclei analyzed which could propose a deletion of this region or an unbalanced rearrangement involving chromosome 14q32. FISH employing the BAC RP11 927H16 probe showed a JAK2 signal on the standard copy of chromosome 9, a JAK2 signal to the brief arm of chromosome twelve, in addition to a JAK2 signal within the derivative chromosome 9.
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