title: HLA-DR(negative), CD34(negative) hypergranular acute myeloid leukemia with trisomy 6 and del(5)(q22q33): case report and review of the literature.
abstract: We report a unique pediatric case of hypergranular acute myeloid leukemia with myelodysplasia-related changes. The patient presented with moderate leukocytosis with neutrophilia with left-shift maturation and dysplasia, anemia, and multiple sclerotic bone lesions. The bone marrow was hypercellular with a predominance of myeloblast cells and/or abnormal promyelocytes with hypergranular cytoplasm. Flow cytometric immunophenotyping showed that the leukemic cells were positive for CD13, CD33, and myeloperoxidase, and negative for HLA-DR and CD34. Morphology and immunophenotyping were highly suggestive of acute promyelocytic leukemia. The classic t(15;17) or other RARα rearrangements were not detected by cytogenetic or molecular assays, ruling out acute promyelocytic leukemia. Standard cytogenetic analysis showed that the karyotype of the predominant clone was 47,XY,+6 with evidence of clonal evolution to 47,XY,+6,del(5)(q22q33). A literature and database review showed that trisomy 6 is a rare occurrence in hematological malignancies and, to our knowledge, has never been reported in association with del(5)(q22q33) in a child presenting with hypergranular acute myeloid leukemia with myelodysplasia-related changes. We present a current review of the literature and summarize the clinical features of 57 cases of trisomy 6 as the primary chromosomal abnormality in hematological disease.
authors.affiliation: Department of Genetics, Cytogenetics Laboratory, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. bargiropoulos@cheo.on.ca
authors.forename: Bob
authors.initials: B
authors.lastname: Argiropoulos
authors.forename: Brian
authors.initials: B
authors.lastname: Clifford
authors.forename: Susan
authors.initials: S
authors.lastname: Crocker
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Sinclair-Bourque
authors.forename: Elizabeth
authors.initials: E
authors.lastname: McCready
authors.forename: Jean
authors.initials: J
authors.lastname: McGowan-Jordan
authors.forename: Donna L
authors.initials: DL
authors.lastname: Johnston
authors.forename: Ruth
authors.initials: R
authors.lastname: Padmore
mesh_terms: D018952:Antigens, CD34; D002675:Child, Preschool; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D020732:Cytogenetic Analysis; D006684:HLA-DR Antigens; D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*
chemical_list: D018952:Antigens, CD34; D006684:HLA-DR Antigens