A case of myelodysplastic syndrome developed blastic crisis of chronic myelogenous leukemia with acquisition of major BCR/ABL

Abstract

We describe a rare case of myelodysplastic syndrome that developed chronic myelogeneous leukemia with acquisition of Philadelphia chromosome. The major BCR/ABL transcript was confirmed by molecular analysis. The patient shortly showed transformation to blastic crisis. Hematological remission was achieved after 3 months treatment with imatinib mesylate. The patient relapsed with additional chromosomal abnormalities and the disease became refractory to the treatment. Acquisition of the Philadelphia chromosome is an infrequent event in myelodysplastic syndrome, and the addition of this change to the initial genetic abnormality that caused MDS may have been associated with the accelerated clinical course of this patient.

Complete cytogenetic and molecular response to treatment with imatinib mesylate for philadelphia chromosome positive acute myeloid leukemia with multilineage dysplasia

“…Ph chromosome has also been described in MDS and AML together with other cytogenetic findings such as þ8, 75, 77 and hyperhaploidy and sometimes appearing during the disease progression [3,4,6]. In our case, Ph chromosome was a sole anomaly in the all course.…”

“…In those successful cases, imatinib was admitted for a long time to maintain remission as well as CML-CP. Naturally, there are also reports of failure cases of Phþ AML [3,4]. In our case report, we showed the possibility that imatinib could overcome the unfavorable risk factor of myelodysplastic features in Phþ AML.…”

t(6;17)(p21;p13) and acquisition of the Philadelphia chromosome translocation with p190 BCR-ABL1 transcript during the course of myelodysplastic syndrome

“…Reverse transcriptionpolymerase chain reaction analysis further revealed the presence of the minor p190 BCR-ABL1 transcript. Developing a Philadelphia chromosome, considered a primary anomaly, during the course of MDS is extremely rare phenomenon, described only in few patients (Melo et al, 1994;Onozawa et al, 2003;Advani et al, 2004;Keung et al, 2004). Our study illustrates that the Ph translocation may develop from an existing MDS clone, accompanying or perhaps inducing disease transformation.…”

Focal blast crisis in concomitant myelodysplastic syndrome and chronic myelogenous leukemia

“…The presence of MS in either of these two conditions is considered de facto evidence of transformation into acute leukemia. There are rare case reports of the two diseases occurring concurrently [6] . In a small study by Lan et al, the presence of accompanying CML or MDS was associated with a worse outcome as compared with MS seen with isolated AML [7] .…”