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Scherulen W, Harbott J, Janssen JW, 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. 1995;154(5):369-73doi: 10.1007/BF02072105.
Scherulen, W., Harbott, J., Janssen, J. W., Kühl, J., & Bartram, C. R. (1995). Acute promyelocytic leukaemia with hypogranular bone marrow blasts in a 16-year-old girl: diagnostic value of different genetic methods. European journal of pediatrics, 154(5), 369-73. https://doi.org/10.1007/BF02072105
Scherulen, W, et al. "Acute promyelocytic leukaemia with hypogranular bone marrow blasts in a 16-year-old girl: diagnostic value of different genetic methods." European journal of pediatrics vol. 154,5 (1995): 369-73. doi: https://doi.org/10.1007/BF02072105
Scherulen W, Harbott J, Janssen JW, Kühl J, Bartram CR. Acute promyelocytic leukaemia with hypogranular bone marrow blasts in a 16-year-old girl: diagnostic value of different genetic methods. Eur J Pediatr. 1995 May;154(5):369-73. doi: 10.1007/BF02072105. PMID: 7641768.
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Eur J Pediatr. 1995 May;154(5):369-73. doi: 10.1007/BF02072105.

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

European journal of pediatrics

W Scherulen, J Harbott, J W Janssen, J Kühl, C R Bartram

Affiliations

  1. Universitäts-Kinderklinik, Würzburg, Germany.

PMID: 7641768 DOI: 10.1007/BF02072105

Abstract

UNLABELLED: 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.

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/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.

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