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.
"Chronic myeloid leukemia is the first diagnosis proposed in this patient due to the presence of positive chromosome Philadelphia, however, this patient did not have positive history to CML, and in the other hand, the rapidly fatal progressive evolution as well as positive myeloid markers, and positive MPO, make the diagnosis of acute basophilic leukemia with two coexisting clonal abnormalities (trisomy 19 and t(9;22) chromosome) very likely. However, the Philadelphia chromosome had been described in other haematological malignant diseases  . We conclude, based on clinical features and fatal violent evolution, that this patient had a form of acute basophilic leukemia with the presence of the positive chromosome Philadelphia and trisomy 19. "
[Show abstract][Hide abstract] 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).
"Subclones with the t(9;22)/BCR-ABL1 Rearrangement selection of AML cases with Philadelphia positive subclones presenting the BCR-ABL1 tranlslocation as secondary alteration in coincidence with another genetic lesion, only eight cases were remaining: four with CBF-AML – three inv(16)/ CBFB-MYH11 (Secker-Walker et al, 1992; Miura et al, 1994); (Svaldi et al, 2001) and one t(8;21)/RUNX1-RUNX1T1, one case had acute promyelocytic leukaemia (APL) with the t(15;17)/PML-RARA (Mozziconacci et al, 1998), and two had an inv(3)(q21q26) (Mozziconacci et al, 1998; Han & Theil, 2006). Finally, one case was reported to carry the Philadelphia positive subclone in AML with a t(3;21)(q21;q22) (Nawata et al, 2000). "
[Show abstract][Hide abstract] ABSTRACT: In AML, cooperation of mutations suppressing differentiation ('class-II-mutations') with 'class-I-mutations' increasing cell proliferation is frequent. In rare cases of myeloid malignancies, the BCR-ABL1 fusion was reported to cooperate as class-I-mutation with class-II-mutations, but most cases had to be classified as blast phase of chronic myeloid leukaemia (CML). We identified five cases of Philadelphia positive subclones in AML occurring in coincidence with other genetic lesions: 1:220 patients with inv(16)/CBFB-MYH11 (0·5%), 2:272 AML cases with t(8;21)/RUNX1-RUNX1T1 (0·7%), 1:1029 NPM1-mutated AML (0·1%), and one patient with s-AML following MDS with a 5q-deletion. Four patients had m-BCR (e1a2) BCR-ABL1 transcripts; one case only had an M-BCR (b3a2) breakpoint. These cases allow some interesting conclusions: The BCR-ABL1 rearrangement apparently can cooperate with the NPM1 mutation similar to other class-I-mutations. The identification of Philadelphia positive subclones in <1% of patients with CBF-leukaemias fits well with previous observations that most CBF-AML are accompanied by activating mutations in genes enhancing proliferation. Since we observed the occurrence of the Philadelphia positive subclones at diagnosis, at relapse, or throughout the disease, the time point of the emergence of Philadelphia subclones seems variable in AML. Clinical research should further concentrate on Philadelphia positive subclones in AML to assess the clinical impact.
British Journal of Haematology 03/2011; 152(6):713-20. DOI:10.1111/j.1365-2141.2010.08472.x · 4.71 Impact Factor
[Show abstract][Hide abstract] 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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