Philadelphia chromosome positive acute lymphoblastic leukemia in a child – case report

Written by Horváth Adrienne, Köpeczi Beáta Judit, Papp Zsuzsanna Erzsébet, Molnár Terézia

About 500 new cases of acute lymphoblastic leukemia (ALL) are diagnosed annually in Romania in the age group 0–18 years. The Philadelphia chromosome (Ph+) is present in 2–5% of childhood ALL, compared to 25% in adults. The translocation t(9;22) induces the active tyrosine kinase BCR-ABL1 which causes the proliferation of hematopoietic cells in the bone marrow. Ph+ ALL is an agressive leukemia, which appears at older ages, with high leucocyte number, L2 morphology, common-B, pre-B or T-cell immunology, often with pseudodiploid caryotype and which can rapidly become chemoresistant. The prognosis is severe, the survival is 25–32% with chemotherapy alone and 34–48% with hematopoietic stem cell transplantation (HSCT). Survival has improved with chemotherapy associated with tyrosine kinase inhibitor (TKI). The 12-year-old boy was admitted for repeated respiratory infections, pallor, fatigability, abdominal pain. On admission he was pale, with some ecchimoses on the extremities, generalized adenomegaly, hepato-splenomegaly. WBC 380.000/ μL, Hgb 5,4 g/dL, Htc 19,8%, platelets 52.000/μL. In peripheral blood there were 86% lymphoblasts. The bone marrow was infiltrated in proportion of 95% with FAB L2 type, pre-B lymphoblasts, with a ratio of bcr-abl/ abl over 100% IS (Ritus-Biotech, Codlea). The patient underwent high-risk chemotherapy, in association with Imatinib 400 mg/day po for the last 10 months. An invasive fungal infection caused his death, after the last high-risk chemotherapeutic block.


Keywords: Philadelphia chromosome, acute lymphoblastic leukemia, child.

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