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European Journal of Pediatrics
Published in: European Journal of Pediatrics 10/2015

01-10-2015 | Short Communication

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

Authors: H. Boutroux, A. Petit, A. Auvrignon, H. Lapillonne, P. Ballerini, R. Favier, G. Leverger

Published in: European Journal of Pediatrics | Issue 10/2015

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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.
Literature
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Balduini CL, Pecci A, Noris P (2013) Diagnosis and management of inherited thrombocytopenias. Semin Thromb Hemost 39(2):161–71CrossRefPubMed
2.
Balduini CL, Pecci A, Noris P (2012) Inherited thrombocytopenias: the evolving spectrum. Hamostaseologie 32(4):259–70CrossRefPubMed
3.
Bluteau D, Balduini A, Balayn N, Currao M, Nurden P, Deswarte C et al (2014) Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation. J Clin Invest 124(2):580–91PubMedCentralCrossRefPubMed
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Drachman JG (2004) Inherited thrombocytopenia: when a low platelet count does not mean ITP. Blood 103(2):390–8CrossRefPubMed
5.
Necchi V, Balduini A, Noris P, Barozzi S, Sommi P, di Buduo C et al (2013) Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia. Thromb Haemost 109(2):263–71CrossRefPubMed
6.
Noris P, Favier R, Alessi M-C, Geddis AE, Kunishima S, Heller PG et al (2013) ANKRD26-related thrombocytopenia and myeloid malignancies. Blood 122(11):1987–9CrossRefPubMed
7.
Noris P, Perrotta S, Seri M, Pecci A, Gnan C, Loffredo G et al (2011) Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 117(24):6673–80CrossRefPubMed
8.
Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G et al (2011) Mutations in the 5’ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet 88(1):115–20PubMedCentralCrossRefPubMed
Metadata
Title
Childhood diagnosis of genetic thrombocytopenia with mutation in the ankyrine repeat domain 26 gene
Authors
H. Boutroux
A. Petit
A. Auvrignon
H. Lapillonne
P. Ballerini
R. Favier
G. Leverger
Publication date
01-10-2015
Publisher
Springer Berlin Heidelberg
Published in
European Journal of Pediatrics / Issue 10/2015
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-015-2549-x

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