Abstract
Multi-parameter flow cytometry, molecular genetics, and cytogenetic studies have all contributed to new classification of leukemia. In this review we discuss immunophenotypic characteristics of major genotypic leukemia categories. We describe immunophenotype of: B-lineage ALL with MLL rearrangements, TEL/AML1, BCR/ABL, E2A/PBX1 translocations, hyperdiploidy, and myc fusion genes; T-ALL with SCL gene aberrations and t(5;14) translocation; and AML with AML1/ETO, PML/RARα, OTT/MAL and CBFβ/MYH11 translocations, trisomies 8 or 11 and aberrations of chromosomes 7 and 5. Whereas some genotypes associate with certain immunophenotypic features, others can present with variable immunophenotype. Single molecules (as NG2, CBFβ/SMMHC and PML/RARα proteins) associated with or derived from specific translocations have been described. More often, complex immunophenotype patterns have been related to the genotype categories. Most known associations between immunophenotype and genotype have been defined empirically. Therefore, these associations should be validated in independent patient cohorts before they can be widely used for prescreening of leukemia. Progress in our knowledge on leukemia will show how the molecular–genetic changes modulate the immunophenotype as well as how the expressed protein molecules further modulate cell behavior.
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Acknowledgements
Supported by Barncancerfonden (The Swedish Childhood Cancer Society), Cancerfonden (The Swedish Cancer Society), Stockholm County Council, and by projects 6406-3 and 111300001 from Czech Ministries of Health and Education. Part of this manuscript is based on the central diagnostic programs of the Czech Pediatric Hematology Working Group. The help of Radek Čmejla with preparation of the meta-analysis figures is appreciated. The authors thank Mr Lewis Edgel for linguistic consultation.
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Hrušák, O., Porwit-MacDonald, A. Antigen expression patterns reflecting genotype of acute leukemias. Leukemia 16, 1233–1258 (2002). https://doi.org/10.1038/sj.leu.2402504
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DOI: https://doi.org/10.1038/sj.leu.2402504
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