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Objectives. This study aimed to find the association between clinical characteristics, cytogenetics, and post-induction outcomes of childhood acute lymphoblastic leukemia. Methods. The study was conducted at the Indus Hospital in Karachi. Initial total leukocyte count (TLC), cytogenetics, CNS status, and post-induction remission status were recorded. Results. Out of 108 children diagnosed with ALL, 66 (61.1%) were male and 42 (38.9%) were female. The majority 90 (83.3%) had B-ALL. CNS1 status was observed in 76 (84.4%) B-ALL and 18 (88.9%) T-ALL. All T-ALL and 89 (98.8%) B-ALL achieved remission post-induction. In B-ALL, 50 (55.5%) had a normal diploid karyotype, and 22 (24.4%) had numerical abnormalities. No typical gene rearrangement was observed in 66 (73.3%), 11 (12.2%) had BCR::ABL1, 10 (11.1%) had ETV6::RUNX1 and 3 (3.3%) KMT2A on FISH. No significant difference was observed between cytogenetics and clinical characteristics (P > .05). Conclusion. The study provides valuable data on childhood acute lymphoblastic leukemia in the Pakistani population.
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BACKGROUND AND OBJECTIVE: Breakpoint cluster region-Abelson (BCR-ABL) rearrangement or Philadelphia (Ph) chromosome in Chronic Myeloid Leukemia (CML) is derived from a reciprocal chromosomal translocation between ABL gene on chromosome 9 and BCR gene on chromosome 22. This chimeric protein has various sizes and therefore different clinical behaviour. The purpose of this study was to determine the heterogeneity of BCR-ABL rearrangement in patients with Ph(+)CML in Pakistan. METHODS: The study was conducted at Civil Hospital and Baqai Institute of Hematology (BIH) Karachi. Blood samples from 25 patients with CML were collected. Multiplex reverse transcription polymerase chain reaction (RT-PCR) was performed to identify various BCR-ABL transcripts. RESULTS: All 25 samples showed BCR-ABL rearrangements. Out of these, 24 (96%) patients expressed p210 BCR-ABL rearrangements i.e. 60% (n=15) had b3a2 and 32% (n=8) had b2a2 rearrangements. Co-expression of b3a2 /b2a2 rearrangement and p190 (e1a3) rearrangement was also identified in two patients. CONCLUSION: It is apparent that majority of the patients had p210 BCR-ABL rearrangements. Frequency of co-expression and rare fusion transcripts was very low.
RESUMEN
BACKGROUND AND OBJECTIVE: Co-existence of myeloproliferative disorders (MPD) and Janus associated kinase 2 mutation (JAK2 V617F) is a well-established fact. Only few case reports are available showing presence of JAK2 V617F mutation in chronic myeloid leukemia (CML). Purpose of this study was to determine the frequency of JAK2 V617F mutation in Philadelphia Chromosome positive (Ph (+)) CML patients in Pakistan. METHODS: The study was conducted from August 2009 to July 2010 at Civil Hospital and Baqai Institute of Hematology (BIH) Karachi. Blood samples from 25 patients with CML were collected. Multiplex reverse transcription polymerase chain reaction (RT-PCR) was performed for Breakpoint Cluster Region - Abelson (BCR-ABL) rearrangement. Conventional PCR was performed for JAK2 V617F mutation on BCR-ABL positive samples. RESULTS: All 25 samples showed BCR-ABL rearrangement. Out of these 11 samples (44%) had JAK2 V617F mutation; the remaining 14 (56%) cases showed JAK2 617V wild type. CONCLUSION: It is concluded that the co-existence of Ph (+)CML and JAK2 V617F mutation is possible.