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Immunogenotyping with antigen receptor gene probes as a diagnostic tool in childhood acute lymphoblastic leukaemia

Fey, Martin F.
Tobler, Andreas
Stadelmann, Barbara
Hirt, Andreas
Theilkäs, Lore
Khandjian, Edouard W.
Ridolfi-Lüthy, Annette
Delaleu, Beatrice
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Published in European journal of haematology. 1990, vol. 45, no. 4, p. 215-222
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.
Keywords AdolescentBacterial ProteinsBurkitt Lymphoma/diagnosis/geneticsChildPreschool childDNA ProbesDeoxyribonuclease EcoRIDeoxyribonuclease HindIIISite-Specific Type II DeoxyribonucleasesGene RearrangementT-Lymphocyte gene rearrangementBeta-Chain T-Cell Antigen Receptor Gene RearrangementGenotypeHumansImmunoglobulin Heavy Chains/geneticsImmunophenotypingInfantAdult T-Cell Leukemia-Lymphoma/diagnosis/geneticsNucleic Acid HybridizationRestriction Fragment Length PolymorphismT-Cell antigen receptors/genetics
PMID: 1977612
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Swiss National Science Foundation: 31.9392.88
Swiss National Science Foundation: 31.9141.87
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FEY, Martin F. et al. Immunogenotyping with antigen receptor gene probes as a diagnostic tool in childhood acute lymphoblastic leukaemia. In: European Journal of Haematology, 1990, vol. 45, n° 4, p. 215-222. doi: 10.1111/j.1600-0609.1990.tb00460.x https://archive-ouverte.unige.ch/unige:143390

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