Acute promyelocytic leukaemia with hypogranular bone marrow blasts in a 16-year-old girl: diagnostic value of different genetic methods.
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 (RAR alpha) locus. Reverse transcribed polymerase chain reaction assay confirmed the initial diagnosis of PML by amplification of the PML-specific PML/RAR alpha fusion transcript.


CONCLUSIONS
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/RAR alpha-transcripts. Together with careful morphological analysis of bone marrow blasts this assay apparently is the most specific and sensitive method to confirm the diagnosis.
Scherulen
W
W
Universitäts-Kinderklinik, Würzburg, Germany.
Harbott
J
J
Janssen
J W
JW
Kühl
J
J
Bartram
C R
CR
D000293:Adolescent; D001483:Base Sequence; D015139:Blotting, Southern; D001853:Bone Marrow / Q000473:pathology; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods; D014178:Translocation, Genetic / Q000235:genetics*