Acute promyelocytic leukaemia with hypogranular bone marrow blasts in a 16-year-old girl: diagnostic value of different genetic methods
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1432-1076
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Key words Promyelocytic ; leukaemia ; Atypical translocation ; Rearrangement ; reverse transcribed ; polymerase chain reaction
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Springer Online Journal Archives 1860-2000
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Medicine
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Abstract We report a 16-year-old girl who presented with anaemia, thrombocytopenia, leukocytosis and disseminated intravascular coagulation. Bone marrow analysis showed promyelocyte-like myeloblasts with rare Auer rods and very few granula. CD2 antigen was not expressed in bone marrow blasts. Karyotype analysis revealed a complex pattern of chromosomal aberrations without the promyelocytic leukaemia (PML) specific translocation t(15;17) (q22;q21). Southern blot analysis revealed a rearrangement of the retinoic acid receptor alpha (RARα) locus. Reverse transcribed polymerase chain reaction assay confirmed the initial diagnosis of PML by amplification of the PML-specific PML/RARα fusion transcript. Conclusion This case report confirms that a characteristic translocation t(15;17) is not always detectable in PML blasts by karyotype analysis despite presence of specific PML/RARα-transcripts. Together with careful morphological analysis of bone marrow blasts this assay apparently is the most specific and sensitive method to confirm the diagnosis.
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Electronic Resource
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