The Philadelphia chromosome as a secondary abnormality in inv(3)(q21q26) acute myeloid leukemia at diagnosis: confirmation of p190 BCR-ABL mRNA by real-time quantitative polymerase chain reaction.
ABSTRACT The Philadelphia chromosome (Ph) as a secondary cytogenetic abnormality is a rare event. It is observed mostly as an additional, late-appearing cytogenetic change during the evolution of acute leukemia and its presentation as a secondary change at the onset of disease is much rarer. We describe here a patient with acute myelogenous leukemia (AML) who had Ph as a secondary chromosome abnormality at diagnosis. Cytogenetic analysis showed an abnormal karyotype, 45,XY,inv(3)(q21q26),-7/45,idem, t(9;22)(q34;q11.2). The p190 variety of BCR-ABL rearrangements was confirmed by a real-time reverse-transcriptase polymerase chain reaction using fluorescent probes. To our knowledge, the minor BCR-ABL fusion gene involving a secondary Ph superimposed on inv(3) and monosomy 7 has not been reported in AML at diagnosis. Along with the identification of more cases, it will be possible to understand the exact role of this secondary Ph in a multistep leukemogenesis.
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ABSTRACT: We report a case of acute basophilic leukemia with two coexisting clonal abnormalities, t(9;22) and trisomy 19. The blast showed positive reaction with myeloperoxidase but negative reaction with chloroacetate esterase and acid phosphatase. Metachromatic features of the blast were observed with toluidine blue stain. Ultrastructure study showed the presence of azurophilic granules in basophils and blast mast cells. Conventional and molecular cytogenetic studies revealed, t(9;22) with BCR/ABL positive and trisomy 19 in all metaphase cells. To our knowledge, this paper here is the first to present acute basophilic leukemia with trisomy 19 and t(9;22).Case reports in pathology. 01/2011; 2011:269491.
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ABSTRACT: The probe and primers were designed and synthesized according to the leptin sequence available in GenBank. Then the real-time RT-PCR assay were developed and analysised its superiority. It is proved that the standard curve made by PMD-18Tleptin has a good linear dependence (R2=0.996), The assay is sensitivity (it could detect
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ABSTRACT: In chronic myelogenous leukemia BCR-ABL1 positive detection of cytogenetic abnormalities in addition to t(9;22) is thought to portend a poor prognosis. However, not all abnormalities associated with t(9;22) have the same impact. Inv(3) defines a group of aggressive neoplasms, with poor response to conventional treatment options. In this study 4 cases with t(9;22) and inv(3) treated with tyrosine kinase inhibitors (TKI) were investigated. In 3 cases inv(3) was not detected at the initial diagnosis and the patients initially responded to TKI therapy. Inv(3) was detected at blast crisis in all these 3 cases. One case had both abnormalities at the initial presentation, but this case presented as acute myeloid leukemia. In all cases detection of inv(3) was associated with a high blast count and with a lack of response to treatment regimens including TKI. All patients expired within months from the detection of inv(3). This indicates that cases with t(9;22) and inv(3) have a clinical course similar to that of cases with inv(3) and no other therapeutically targetable abnormality.Cancer Genetics 05/2014; · 2.42 Impact Factor