title: Acute promyelocytic leukaemia with hypogranular bone marrow blasts in a 16-year-old girl: diagnostic value of different genetic methods.
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 (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.
authors.affiliation: Universitäts-Kinderklinik, Würzburg, Germany.
authors.forename: W
authors.initials: W
authors.lastname: Scherulen
authors.forename: J
authors.initials: J
authors.lastname: Harbott
authors.forename: J W
authors.initials: JW
authors.lastname: Janssen
authors.forename: J
authors.initials: J
authors.lastname: Kühl
authors.forename: C R
authors.initials: CR
authors.lastname: Bartram
mesh_terms: 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*