Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of infant leukemia with the proliferation of both erythroblast and megakaryoblast lineages. The blasts became double-positive for both erythroblastic and megakaryoblastic surface markers at the time of bone marrow relapse. A 9-month-old girl was admitted to our hospital presenting chiefly poor with weight gain and anemia. She also had splenomegaly, pleural effusion, leukocytosis, and thrombocytopenia. A bone marrow specimen showed 53.2% erythroblasts (PAS positive, alpha-NA positive, CD41 negative, MPO negative) and 20.4% megakaryoblasts with marked cytoplasmic blebs. We examined specimens by two-color flow cytometric analysis. At the onset, CD41+ glycophorin A- fraction and CD41- glycophorin A+ fraction were two major components. At the bone marrow relapse, the majority of blasts had altered to double-positive. Chromosomal analysis showed t (1; 22) (p13; q13), which has been reported to be specific for acute megakaryoblastic leukemia (M7) in infants. We reasoned that a leukemia had occurred in this patient at a progenitor cell level common to both erythroid and megakaryocytic lineages.
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PMID:[Infant leukemia with t(1;22) presenting proliferation of erythroid and megakaryocytic cell lineages]. 1022 31

Imatinib has shown significant clinical and cytogenetic success in the treatment of chronic myeloid leukemia. Although resistance has been observed in a proportion of patients, sudden blastic crisis is a rare event during imatinib therapy. We describe a 24-year-old male patient with Philadelphia chromosome-positive chronic myeloid leukemia in chronic phase who developed sudden blastic crisis in the 24th month of imatinib therapy, with loss of complete cytogenetic response. At this time, the patient had splenomegaly, severe anemia, thrombocytopenia, and leukocytosis. Bone marrow aspirate revealed the presence of massive blastic infiltration with myeloid morphology. Flow cytometric analysis of the bone marrow cells showed positivity for CD45, CD34, CD13, CD33, CD19, CD41, CD61, and glycophorin-A. Trephine biopsy specimens showed 100% cellular marrow with diffuse infiltrate by blasts. A reticulin stain of the bone marrow biopsy section demonstrated severe diffuse fibrosis. Cytogenetic analysis by fluorescence in situ hybridization (FISH) revealed that 92% of the cells were positive for the BCR/ABL fusion signal and had increased copy numbers for chromosomes 8, 13, 19, and 21. The patient's prognosis was unfavorable. In conclusion, chronic myeloid leukemia remains complex and includes unanswered questions. The presented case with a rare event during imatinib therapy highlights the need for the continued monitoring of residual disease and the development of strategies to eliminate residual leukemia cells in patients showing a complete cytogenetic response.
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PMID:Sudden blastic crisis and additional chromosomal abnormalities during chronic myeloid leukemia in the imatinib era. 1996 94