title: Immunogenotyping with antigen receptor gene probes as a diagnostic tool in childhood acute lymphoblastic leukaemia.
abstract: 13 cases of childhood acute lymphoblastic leukaemia (ALL) were studied combining cell surface marker analysis with immunogenotyping by Southern blot hybridisation with a panel of antigen receptor gene probes. The immunophenotypes were unequivocal: 7 patients had B-phenotype and 6 patients T-phenotype ALL. In several patients immunogenotypes were not fully consistent with the respective phenotypes. For example, 2 B-cell precursor ALL had rearranged TCR beta chain genes and 2 T-ALL rearrangement of Ig heavy-chain genes. All cases showed clonal rearrangement or deletions within the TCR delta gene locus. TCR delta gene rearrangements might, therefore, serve as markers of clonality but not of B- or T-lineage in immature lymphoid neoplasms. We conclude that in current diagnostic practice immunogenotyping is a supplement rather than an alternative to immunophenotyping by surface marker analysis.
authors.affiliation: Institute of Medical Oncology, Inselspital, Bern, Switzerland.
authors.forename: M F
authors.initials: MF
authors.lastname: Fey
authors.forename: A
authors.initials: A
authors.lastname: Tobler
authors.forename: B
authors.initials: B
authors.lastname: Stadelmann
authors.forename: A
authors.initials: A
authors.lastname: Hirt
authors.forename: L
authors.initials: L
authors.lastname: Theilkäs
authors.forename: E W
authors.initials: EW
authors.lastname: Khandjian
authors.forename: A
authors.initials: A
authors.lastname: Ridolfi-Lüthy
authors.forename: B
authors.initials: B
authors.lastname: Delaleu
authors.forename: R
authors.initials: R
authors.lastname: Weil
authors.forename: H P
authors.initials: HP
authors.lastname: Wagner
mesh_terms: D000293:Adolescent; D001426:Bacterial Proteins; D002051:Burkitt Lymphoma / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D015342:DNA Probes; D015246:Deoxyribonuclease EcoRI; D015247:Deoxyribonuclease HindIII; D015252:Deoxyribonucleases, Type II Site-Specific; D015321:Gene Rearrangement; D015329:Gene Rearrangement, T-Lymphocyte; D015333:Gene Rearrangement, beta-Chain T-Cell Antigen Receptor; D005838:Genotype; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D016130:Immunophenotyping; D007223:Infant; D015459:Leukemia-Lymphoma, Adult T-Cell / Q000175:diagnosis* / Q000235:genetics; D009693:Nucleic Acid Hybridization; D012150:Polymorphism, Restriction Fragment Length; D011948:Receptors, Antigen, T-Cell / Q000235:genetics*
chemical_list: D001426:Bacterial Proteins; D015342:DNA Probes; D007143:Immunoglobulin Heavy Chains; D011948:Receptors, Antigen, T-Cell; D015246:Deoxyribonuclease EcoRI; D015247:Deoxyribonuclease HindIII; C024404:BglII endonuclease; D015252:Deoxyribonucleases, Type II Site-Specific