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  • Title: [Acute lymphocytic leukemia with Philadelphia chromosome and rearrangements of bcr gene and deletion of 5' side and of TCR-delta gene].
    Author: Ohnishi A, Kagiyama S, Shintate Y, Kimura N, Ohgami A, Takechi M, Tanaka K, Kamada N.
    Journal: Rinsho Ketsueki; 1990 Jun; 31(6):820-6. PubMed ID: 2145450.
    Abstract:
    A 58-year old man was admitted because of general malaise in April 1987. Physical examination revealed systemic lymphadenopathy and hepatosplenomegaly. The white blood cell count was 252, 900/microliters with 82% of blasts. Bone marrow aspiration contained 93.8% lymphoblasts, which were positive for TdT and negative for peroxidase reaction. Immunologic marker studies showed OKT 11 positive and CALLA negative. Cytogenetic analysis revealed a clone with 46, XY, t (9; 22) (q34; q11), del(5) (q15) in 12 of the 13 metaphases. Ph1 positive T-acute lymphoblastic leukemia was considered. After AdVP and following AdVEMP (induction) chemotherapy, complete remission was obtained in August 1987. Cytogenetic study at the remission stage showed complete disappearance of Ph1 positive clone. Treatment with BH-AC DMP protocol at the time of recurrence in November 1987, brought no improvement and he died of respiratory failure. Chromosome study at recurrence showed an additional complex abnormal karyotype (double Ph1, +2, 5q-, -10, -13, -17). DNA analysis revealed rearrangements of bcr gene with deletion of 5' side and of TCR delta gene, without any rearrangements in other immunoglobulin genes. From cytogenetic, immunophenotypic and genetic analysis the patient was diagnosed as having acute lymphocytic leukemia (FAB L1) with Philadelphia chromosome and rearrangements of bcr gene with deletion of 5' side and of TCR delta gene.
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