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Nineteen cases of the t(1;22)(p13;q13) acute megakaryblastic leukaemia of infants/children and a review of 39 cases: report from a t(1;22) study group

Leukemia volume 14, pages 216–218 (2000)Cite this article

Annual incidence of haematologic malignancies in childhood is around 50 cases per 106,1 of which acute non-lymphocytic leukaemias (ANLL) account for 10%. M7 ANLL occur at any age, in particular in infants/children younger than 2 years and in adults older than 50 years. M7 represents 10% of childhood ANLL and 0.5–1% of adult ANLL.23 M7 is a heterogenous disease, comprising at least three entities: M7 with t(1;22)(p13;q13), M7 in Down syndrome (DS), both found in infants or young children, and M7 cases without DS and without t(1;22), the latter having a typical ANLL age distribution, increasing with age.4 So far, 24 cases of t(1;22) have been described (ref in http://www.infobiogen.fr/services/chromcancer/StudyGroup/t0122.html). We add 15 unpublished cases, details of four cases previously quoted in Ref. 5 and present updated data on published cases. This large sample allowed thorough statistical analyses to be performed; each of the clinical or biological parameters was evaluated, but only a very few parameters are significantly correlated, and it was found that none has a prognostic value.

The 19 reported patients have been discovered on 10 different centres. According to FAB recommendations, diagnosis of AML-M7 was based on the presence of more than 30% of megakaryoblasts in bone marrow. These blasts had an undifferentiated or a more differentiated morphology characterized by condensed chromatin and the presence of cytoplasmic blebs, and they did not express myeloperoxidase. According to GEIL recommendations,6 the immunophenotypic characterization of megakaryoblasts relied on the negativity of lymphoid antigens together with either the positivity of two megakaryoblastic markers or the expression of one megakaryoblastic marker associated with CD36 positivity. Karyotypes were obtained from bone marrow and/or blood samples (24 h culture, GTG and/or RHG banding). In cases with +21, a constitutional karyotype was requested to assess normality or detect a constitutional chromosome abnormality. Statistical analyses were performed using Fisher's exact test, and for comparisons between survivals, logrank test. Complete and detailed clinical, haematological and cytogenetic data on each of the 39 cases are available at the following URL: http://www.infobiogen.fr/services/chromcancer/StudyGroup/t0122.html.

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Acknowledgements

The authors thank A Baruchel, Y Komada and L Stork for updated (often good) news on their patients. This work was supported by grants from Ligue Nationale contre le Cancer and the Oesterreichische Kinderkrebsfilfe. We acknowledge the excellent technical support of Margit Koenig.

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Authors and Affiliations

  1. Indiana University School of Medicine, IN, USA

    J Bernstein & NA Heere ma

  2. CHU Purpan, Toulouse, France

    N Dastugue

  3. St-Anna Kinderspital, Wien, Austria

    OA Haas, G Mann & H Pirc-Danoewinata

  4. Children's University Hospital, Giessen, Germany

    J Harbott & B Roitzheim

  5. CHU Poitiers, France

    JL Huret

  6. CHU St-Antoine, Paris, France

    J Landman-Parker & C Perot

  7. University of Chicago, IL, USA

    MM LeBeau & CM Rubin

  8. CHU Bicetre, Paris, Sud, France

    C Leonard

  9. CHU Debrousse, Lyon, France

    MP Pages

  10. University of Wroclaw, Poland

    M Slociak

  11. Hotel-Dieu, Paris, France

    F Viguie

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Bernstein, J., Dastugue, N., Haas, O. et al. Nineteen cases of the t(1;22)(p13;q13) acute megakaryblastic leukaemia of infants/children and a review of 39 cases: report from a t(1;22) study group. Leukemia 14, 216–218 (2000). https://doi.org/10.1038/sj.leu.2401639

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