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Detection of a new heterozygous germline ETV6 mutation in a case with hyperdiploid acute lymphoblastic leukemia

Authors :
Nicolas Duployez
Yves Bertrand
Thomas Boyer
Alice Marceau-Renaut
Sandrine Geffroy
Pauline Peyrouze
Sophie Lejeune
Wadih Abou Chahla
Nathalie Grardel
Gérard Michel
Guillaume Letizia
Brigitte Nelken
Claude Preudhomme
Source :
European Journal of Haematology. 100:104-107
Publication Year :
2017
Publisher :
Wiley, 2017.

Abstract

ETV6 is a target of recurrent aberrations in sporadic and familial acute lymphoblastic leukemia (ALL). Here, we report on a new pedigree with a germline ETV6 mutation in which the index patient and his father developed high hyperdiploid (HeH) ALL and polycythemia vera at age 13 and 51, respectively. The index patient achieved durable complete remission without transplantation but had persistent moderate thrombocytopenia without bleeding tendency. To determine the prevalence of ETV6 alterations in HeH-ALL, we screened 81 unrelated subjects with HeH-ALL by single nucleotide polymorphism array and high-throughput sequencing for the ETV6 gene. Overall, ETV6 microdeletions and mutations were identified in 9% of cases, all of which were somatic and considered as secondary events. Apart from the index patient, no germline ETV6 aberration was identified. Finally, we reviewed the literature for ETV6 germline aberrations and predispositions to ALL.

Details

ISSN :
09024441
Volume :
100
Database :
OpenAIRE
Journal :
European Journal of Haematology
Accession number :
edsair.doi.dedup.....920197f03ebfac007fc808711e727432
Full Text :
https://doi.org/10.1111/ejh.12981