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Detection of a new heterozygous germline ETV 6 mutation in a case with hyperdiploid acute lymphoblastic leukemia
Author(s) -
Duployez Nicolas,
Abou Chahla Wadih,
Lejeune Sophie,
MarceauRenaut Alice,
Letizia Guillaume,
Boyer Thomas,
Geffroy Sandrine,
Peyrouze Pauline,
Grardel Nathalie,
Nelken Brigitte,
Michel Gérard,
Bertrand Yves,
Preudhomme Claude
Publication year - 2018
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/ejh.12981
Subject(s) - germline , germline mutation , medicine , lymphoblastic leukemia , mutation , genetics , gastroenterology , oncology , cancer research , leukemia , biology , gene
ETV 6 is a target of recurrent aberrations in sporadic and familial acute lymphoblastic leukemia ( ALL ). Here, we report on a new pedigree with a germline ETV 6 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 ETV 6 alterations in HeH‐ ALL , we screened 81 unrelated subjects with HeH‐ ALL by single nucleotide polymorphism array and high‐throughput sequencing for the ETV 6 gene. Overall, ETV 6 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 ETV 6 aberration was identified. Finally, we reviewed the literature for ETV 6 germline aberrations and predispositions to ALL .