Detection of a new heterozygous germline ETV6 mutation in a case with hyperdiploid acute lymphoblastic leukemia.
Nicolas DuployezWadih Abou ChahlaSophie LejeuneAlice Marceau-RenautGuillaume LetiziaThomas BoyerSandrine GeffroyPauline PeyrouzeNathalie GrardelBrigitte NelkenGérard MichelYves BertrandClaude PreudhommePublished in: European journal of haematology (2017)
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.
Keyphrases
- acute lymphoblastic leukemia
- allogeneic hematopoietic stem cell transplantation
- copy number
- dna repair
- case report
- systematic review
- systemic lupus erythematosus
- mesenchymal stem cells
- high throughput sequencing
- dna methylation
- stem cells
- high resolution
- genome wide
- mass spectrometry
- high intensity
- acute myeloid leukemia
- transcription factor
- ulcerative colitis
- sensitive detection