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Childhood diagnosis of genetic thrombocytopenia with mutation in the ankyrine repeat domain 26 gene

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Abstract

The most common diagnosis for pediatric thrombocytopenia is immune thrombocytopenia. Nevertheless, in atypical cases, the hypothesis of an inherited thrombocytopenia has to be investigated. We report a series of cases of a newly described entity, genetic thrombocytopenia with mutation in the ankyrine 26 gene, diagnosed from the exploration of five pediatric cases of thrombocytopenia. This entity is characterized by a moderate thrombocytopenia with normal mean platelet volume, and poorly bleeding. Its transmission is autosomal dominant. Final diagnosis is made by sequencing of a short DNA region of ANKRD26 gene. This pathology can be considered as an hematological malignancy predisposition syndrome.

Conclusion: We report the first cohort of pediatric patients diagnosed with thrombocytopenia with mutation in the ankyrine 26. The aim is to underline the specificities of this entity in children and bring it to the knowledge of pediatricians who may be in first place to manage these patients.

What is Known:

• Genetic thrombocytopenia with mutation in the ankyrine 26 gene is a recently described entity, which seems to be considered as a predisposition for hematologic malignancies.

• The first cohort has been reported in 2011, by Noris et al., in 78 Italian adult patients.

What is New:

• We describe clinical and biological features of the first pediatric cohort diagnosed with genetic thrombocytopenia with mutation in the ankyrine 26 gene.

• It seemed important to consider the pediatric specificities of this entity to enable pediatricians to investigate, diagnose, and manage pediatric patients and their families.

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Abbreviations

ANKRD26:

Ankyrine 26

CD:

Cluster differentiation

GP:

Glycoprotein

ITP:

Immune thrombocytopenia

MPV:

Mean platelet volume

TPO:

Thrombopoietin

UTR:

Untranslated region

References

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Conflict of interest statement

The authors have no conflict of interest to disclose for this work.

Authors’ contributions

HB collected the data and wrote the manuscript. GL, AA, and AP followed the patients in consultations. HL, PB, and RF performed biological analyses and genotyping assays. All the authors reviewed and approved the manuscript.

Author information

Authors and Affiliations

  1. Department of Pediatric Hematology and Oncology, Trousseau Hospital (AP-HP), 75012, Paris, France

    H. Boutroux, A. Petit, A. Auvrignon & G. Leverger

  2. UPMC Univ Paris 06, UMR_S 938, Sorbonne University, 75005, Paris, France

    A. Petit, A. Auvrignon, H. Lapillonne & G. Leverger

  3. Haematological Laboratory, Trousseau Hospital (AP-HP), 75012, Paris, France

    H. Lapillonne, P. Ballerini & R. Favier

  4. INSERM, U1009, 94105, Villejuif, France

    R. Favier

Authors
  1. H. Boutroux
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  2. A. Petit
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  3. A. Auvrignon
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  4. H. Lapillonne
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  5. P. Ballerini
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  6. R. Favier
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  7. G. Leverger
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Corresponding author

Correspondence to H. Boutroux.

Additional information

Communicated by David Nadal

Revisions received: 11 February 2015 / 12 April 2015

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Boutroux, H., Petit, A., Auvrignon, A. et al. Childhood diagnosis of genetic thrombocytopenia with mutation in the ankyrine repeat domain 26 gene. Eur J Pediatr 174, 1399–1403 (2015). https://doi.org/10.1007/s00431-015-2549-x

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  • DOI: https://doi.org/10.1007/s00431-015-2549-x

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