International Journal of Hematology and Therapy | Volume 4 | Issue 1 | 2018-07-20

Double Philadelphia Chromosome-Positive B Acute Lymphoblastic Leukemia

Tao Wu

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Philadelphia (Ph) chromosome is the derivative chromosome 22 that results from reciprocal translocation t(9;22) (q34;q11). It has been found in about 95% of chronic myeloid leukemia (CML), less often presented in acute lymphocytic leukemia (ALL, about 25% in adult and 2 - 4% in pediatrics) and occasionally observed in acute myelogenous leukemia (AML) [1] . While double Ph chromosomes can be reported in some cases of CML during blastcrisis, it is rarely reported in ALL. We present a rare case of a lady with a diagnosis of double Ph-positive B-ALL who achieved a continuous complete response after treatment with a combination of conventional chemotherapy and tyrosine kinase inhibitor (TKI) as follows. Case Report A 53-year-old lady was admitted to our hospital with half a month history of fever, fatigue and dizziness. Physical examination revealed palpable sternal tenderness. Peripheral blood tests showed white cell count 95.39 10 9 /L, hemoglobin 100 g/L and platelet 18 10 9 /L. Peripheral blood cell morphology showed: lymphoblasts 44%, immature lymphocytes 50%. Bone marrow cytology showed 98% blasts which were heterogeneous in size. Immunophenotype of the blast cells showed: CD10+, CD13+, CD19+, CD20+, CD22+, CD33+, CD34+. Chromosome analysis revealed a 47 ~ 50, XX, +5, +8, t(9;22) (q34;q11), + der(22) t (9;22) karyotype (Figure 1). In conclusion, her final diagnosis was B-ALL with double Ph chromosome. She was initially treated with conventional chemotherapy and regular intrathecal chemotherapy. As Ph chromosome was positive, imatinib was subsequently administered. She achieved a complete remission and had stayed in continuous remission for two months. Figure 1: Karyotype of bone marrow showed 47 ~ 50, XX, +5, +8, t(9;22) (q34;q11), der(22) t(9;22). There was presence of two truncated Ph chromosomes 22 (arrows). Discussion Ph chromosome positive ALL is associated with a highly aggressive disease, more resistant to chemotherapy [2] , and lower remission rate and shorter survival when compared with Ph chromosomenegative [3] . Affected patients usually present with signs and symptoms related to bone marrow failure. The current standard therapy for Ph chromosome-positive B-ALL ischemotherapy in addition to TKI, and allogeneic stem cell transplantation after first remission is believed to be the treatment of choice in adult Ph chromosome positive ALL, when possible [4] . Double Ph chromosome-positive B-ALL is reported in several case reports worldwide [1,5-7] . The possible mechanism of double Ph chromosome is considered to be the result of non-disjunction occurring during mitosis [1] . However, the clinical significance of double Ph chromosomes in ALL has not been known. It is reported that double Ph chromosome-positive ALL patients have lower probability of complete hematological response, shorter time to progression and inferior overall survival when compared with single Ph chromosome [8] . We describe here the rare case of an elderly female patient with double Ph chromosome-positive B-ALL who stayed in continuous complete remission for two months after initial therapy. As a whole, the case is consistent with the literature reports, but long-term efficacy needs to be further observed. Therefore, a further large number of cases are needed to probe into the clinical significance of double Ph chromosome in B-ALL. Acknowledgements: This work was sponsored by the grant from the natural science foundation of Gansu Province (145RJZA151). Authors declaration: All authors read and approved the final manuscript. All authors declare no conflict of interest. References 1. Tang, Y.L., Raja Sabudin, R.Z., Leong, C.F., et al. 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