title: Childhood diagnosis of genetic thrombocytopenia with mutation in the ankyrine repeat domain 26 gene.
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.
  
  
  CONCLUSIONS
  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.
  
  
  BACKGROUND
  • 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.
authors.affiliation: Department of Pediatric Hematology and Oncology, Trousseau Hospital (AP-HP), 75012, Paris, France. helene.boutroux@gmail.com.
authors.forename: H
authors.initials: H
authors.lastname: Boutroux
authors.affiliation: Department of Pediatric Hematology and Oncology, Trousseau Hospital (AP-HP), 75012, Paris, France. arnaud.petit@trs.aphp.fr.|UPMC Univ Paris 06, UMR_S 938, Sorbonne University, 75005, Paris, France. arnaud.petit@trs.aphp.fr.
authors.forename: A
authors.initials: A
authors.lastname: Petit
authors.affiliation: Department of Pediatric Hematology and Oncology, Trousseau Hospital (AP-HP), 75012, Paris, France. anne.auvrignon@trs.aphp.fr.|UPMC Univ Paris 06, UMR_S 938, Sorbonne University, 75005, Paris, France. anne.auvrignon@trs.aphp.fr.
authors.forename: A
authors.initials: A
authors.lastname: Auvrignon
authors.affiliation: UPMC Univ Paris 06, UMR_S 938, Sorbonne University, 75005, Paris, France. helene.lapillonne@trs.aphp.fr.|Haematological Laboratory, Trousseau Hospital (AP-HP), 75012, Paris, France. helene.lapillonne@trs.aphp.fr.
authors.forename: H
authors.initials: H
authors.lastname: Lapillonne
authors.affiliation: Haematological Laboratory, Trousseau Hospital (AP-HP), 75012, Paris, France. paola.ballerini@trs.aphp.fr.
authors.forename: P
authors.initials: P
authors.lastname: Ballerini
authors.affiliation: Haematological Laboratory, Trousseau Hospital (AP-HP), 75012, Paris, France. remi.favier@trs.aphp.fr.|INSERM, U1009, 94105, Villejuif, France. remi.favier@trs.aphp.fr.
authors.forename: R
authors.initials: R
authors.lastname: Favier
authors.affiliation: Department of Pediatric Hematology and Oncology, Trousseau Hospital (AP-HP), 75012, Paris, France. guy.leverger@trs.aphp.fr.|UPMC Univ Paris 06, UMR_S 938, Sorbonne University, 75005, Paris, France. guy.leverger@trs.aphp.fr.
authors.forename: G
authors.initials: G
authors.lastname: Leverger
mesh_terms: D000293:Adolescent; D000328:Adult; D017089:Ankyrin Repeat; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins; D010375:Pedigree; D013921:Thrombocytopenia / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism
chemical_list: C583630:ANKRD26 protein, human; D036341:Intercellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D004247:DNA
keywords: Ankyrine repeat domain 26 gene; Dysmegakaryopoiesis; Leukemia; Platelets; Thrombocytopenia