Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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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PMID:[Acute lymphocytic leukemia with Philadelphia chromosome and rearrangements of bcr gene and deletion of 5' side and of TCR-delta gene]. 214 50

We report a 24-year-old woman who had acute monoblastic leukemia associated with t(16;21) (p11;q22). She was referred to our hospital in April 1992 because of high fever and hemorrhagic diathesis. Physical examination on admission showed no hepatosplenomegaly. The hemoglobin was 5.1g/dl, platelet count 1.7 x 10(4)/microliters, the white blood cell count 18,700/microliters. Bone marrow aspirate showed that 86% of nucleated cells were monoblasts which were positive for peroxidase and alpha-naphtyl butyrate esterase. She was diagnosed as having M5a. Dysmegakaryopoiesis, such as micromegakaryocytes and megakaryocytes with multiple small separated nuclei, was seen in the bone marrow. Chromosomal analysis revealed t(16;21). Complete remission was achieved after two courses of BHAC-DMP therapy, but dysmegakaryopoietic features remained. She relapsed in September 1992. Review of the literature and this patient indicate that acute nonlymphocytic leukemia with t(16;21) is associated with multilineage leukemic differentiation.
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PMID:[Acute monoblastic leukemia (M5a) with dysmegakaryocytopoiesis associated with t(16;21) (p11;q22)]. 813 14