Abstract
BackgroundETV6-ACSL6 is a fusion gene rarely reported in myeloid malignancies, and its clinical characteristics, proper treatment strategies, and effect on prognosis are poorly understood.ResultsSixteen patients with the ETV6-ACSL6 fusion gene were identified, with a median age of 50 years. Twelve patients were male. Clinical diagnoses included chronic eosinophilic leukemia, not otherwise specified, acute myeloid leukemia, and other types of myeloproliferative and myelodysplastic disorders. Ten out of 12 patients had increased levels of eosinophils, and four out of five had increased levels of basophils in peripheral blood. Treatment with tyrosine kinase inhibitors was ineffective. The prognosis of the patients was poor, with seven patients dying within 1 year.ConclusionsPatients with the ETV6-ACSL6 fusion gene mainly present with myeloproliferative and myelodysplastic disorders, typically with increased eosinophils and/or basophils and poor survival. Intensive therapies such as allogenic stem cell transplantation should be an initial consideration for eligible patients.
Highlights
ETS variant 6 gene (ETV6)-ACSL6 is a fusion gene rarely reported in myeloid malignancies, and its clinical characteristics, proper treatment strategies, and effect on prognosis are poorly understood
To expand the current knowledge of the ETV6-ACSL6 fusion gene, we reported a patient with the ETV6-ACSL6 fusion gene who presented with chronic eosinophilic leukemia, not otherwise specified (NOS), who importantly received
The ETV6-ACSL6 fusion gene was first reported by Yagasaki et al in 1999 in three patients, with one presenting
Summary
ETV6-ACSL6 is a fusion gene rarely reported in myeloid malignancies, and its clinical characteristics, proper treatment strategies, and effect on prognosis are poorly understood. Translocations involving band 12p13 are frequently seen in myeloid malignancies, through which ETV6 is frequently rearranged [1, 2]. Fusion of ETV6 with ACSL6 is very rarely reported, and the clinical characteristics, proper treatment strategies, and effect on prognosis are poorly understood [3]. The prognosis of patients with the ETV6-ACSL6 fusion gene is thought to be rather poor, with most patients surviving less than a year [3]. To expand the current knowledge of the ETV6-ACSL6 fusion gene, we reported a patient with the ETV6-ACSL6 fusion gene who presented with chronic eosinophilic leukemia, not otherwise specified (NOS), who importantly received
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