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Acute promyelocytic leukaemia with hypogranular bone marrow blasts in a 16-year-old girl: Diagnostic value of different genetic methods

  • Hematology/Oncology
  • Original Paper
  • Published:
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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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Abbreviations

AML :

acute myelocytic leukaemia

ATRA :

all trans retinoic acid

PML :

promyelocytic leukaemia

RARα:

retinoic acid receptor alpha

RT-PCR :

reverse transcribed polymerase chain reaction

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Authors and Affiliations

  1. Universitäts-Kinderklinik, Josef-Schneider-Strasse 2, D-97080, Würzburg, Germany

    W. Scheurlen & J. Kühl

  2. Sektion Molekularbiologie, Universitäts-Kinderklinik II, Helmholtzstrasse 10, D-89081, Ulm, Germany

    J. W. G. Janssen & C. R. Bartram

  3. Universitäts-Kinderklinik, Feulgenstrasse 12, D-35392, Gießen, Germany

    J. Harbott

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  4. J. Kühl
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  5. C. R. Bartram
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Scheurlen, W., Harbott, J., Janssen, J.W.G. et al. Acute promyelocytic leukaemia with hypogranular bone marrow blasts in a 16-year-old girl: Diagnostic value of different genetic methods. Eur J Pediatr 154, 369–373 (1995). https://doi.org/10.1007/BF02072105

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  • DOI: https://doi.org/10.1007/BF02072105

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