Philadelphia Negative BCR-ABL Positive Chronic Myeloid Leukemia Mimicking Juvenile Chronic Myeloid Leukemia in a 2-year-old Child

Abstract

We present the case of a two-year-old child with an atypical presentation of chronic myeloid leukemia. At diagnosis, he showed clinical and biological features of juvenile chronic myeloid leukemia (CML). However, eosinophilia was observed in blood and bone marrow. The bone marrow karyotype did not demonstrate the Philadelphia chromosome but BCR-ABL rearrangement was shown to be present by reverse transcriptase polymerase chain reaction (RT-PCR) analysis and confirmed by fluorescent in situ hybridization (FISH) analysis. Discussion centres on the differentiation between juvenile CML and childhood chronic myelogenous Leukemia and the importance of carrying out RT PCR for all juvenile CML cases.

Paediatric myelodysplastic syndrome (MDS) and juvenile chronic myelogenous leukaemia (JCML) detected by cytogenetic and FISH techniques

“…1991 ). In contrast, Mahon et al . (1997) reported a patient with Ph‐negative JCML to have a BCR–ABL rearrangement detected by reverse transcriptase–polymerase chain reaction (RT‐PCR) and FISH analysis.…”

“…Although a number of adult CML cases with Ph-negative detected by conventional cytogenetic analysis were reported to have the BCR-ABL rearrangement (Chen et al 1993;Hagemeijer et al 1993;Lazaridou et al 1993;Acar, Steward & Connor 1997), most JCML cases lack the Ph chromosome and BCR-ABL rearrangement (Hernadez et al 1991;Puckova et al 1983;Toren et al 1991). In contrast, Mahon et al (1997) reported a patient with Ph-negative JCML to have a BCR-ABL rearrangement detected by reverse transcriptase-polymerase chain reaction (RT-PCR) and FISH analysis. Thus, the present FISH result and previous studies have demonstrated that Ph-negative cases with JCML may have the BCR-ABL rearrangement, as in adult type CML without the Ph chromosome.…”