title: Phenotypic and genotypic heterogeneity in infant acute leukemia. I. Acute lymphoblastic leukemia.
abstract: We have studied the immunophenotypic and genotypic features in 35 infants aged less than 1 year with acute lymphoblastic leukemia (ALL) or acute undifferentiated leukemia (AUL). A CD10 (common ALL antigen)-negative, CD19-positive pre-pre-B ALL phenotype was observed in 24 infants. Seventeen of them had blast cells coexpressing myeloid-associated markers such as CD15A (VIM-D5, MZ17) and/or VIM-2, but neither myeloperoxidase nor platelet peroxidase was detected in five of these cases analyzed by electron microscopy. Five patients showed a typical common ALL, five a pre-B ALL phenotype, and one infant was unclassifiable by surface-marker and morphologic analysis. Cytogenetic data, available in 21 of these patients, revealed chromosomal abnormalities involving 11q23 in 10 infants with a CD10-negative pre-pre-B ALL. Immunoglobulin (Ig) and T cell receptor (TCR) gamma, beta and delta gene analysis of 31 infants showed Ig heavy-chain gene rearrangement in all but one patient with evidence for clonal evolution in six and kappa-light-chain rearrangement in three infants. TCR beta-chain and TCR gamma-chain rearrangement occurred in six and five patients respectively, while TCR delta-chain rearrangement was identified in 15 patients. Our data indicate that ALL in infancy may present with heterogeneous immunophenotypic and genotypic features. The high frequency of coexpression of B-lineage and myeloid surface markers as well as of chromosomal rearrangement involving 11q23 suggests that the clonogenic cell of infant ALL may relate to a multipotent progenitor cell in most cases.
authors.affiliation: Department of Hematology/Oncology, Klinikum Steglitz, Berlin, FRG.
authors.forename: W D
authors.initials: WD
authors.lastname: Ludwig
authors.forename: C R
authors.initials: CR
authors.lastname: Bartram
authors.forename: J
authors.initials: J
authors.lastname: Harbott
authors.forename: U
authors.initials: U
authors.lastname: Köller
authors.forename: O A
authors.initials: OA
authors.lastname: Haas
authors.forename: T
authors.initials: T
authors.lastname: Hansen-Hagge
authors.forename: G
authors.initials: G
authors.lastname: Heil
authors.forename: H
authors.initials: H
authors.lastname: Seibt-Jung
authors.forename: J V
authors.initials: JV
authors.lastname: Teichmann
authors.forename: J
authors.initials: J
authors.lastname: Ritter
mesh_terms: D000911:Antibodies, Monoclonal; D000954:Antigens, Surface / Q000032:analysis; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11; D005260:Female; D015322:Gene Rearrangement, B-Lymphocyte; D015329:Gene Rearrangement, T-Lymphocyte; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D011289:Preleukemia / Q000235:genetics
chemical_list: D000911:Antibodies, Monoclonal; D000954:Antigens, Surface