title: FISH identifies a KAT6A/CREBBP fusion caused by a cryptic insertional t(8;16) in a case of spontaneously remitting congenital acute myeloid leukemia with a normal karyotype.
abstract: Cytogenetics can inform risk stratification in pediatric acute myeloid leukemia (AML). We describe the first case of a newborn with leukemia cutis found to have AML harboring a cryptic insertional t(8;16)(p11.2;p13.3) with associated KAT6A/CREBBP fusion identified exclusively by fluorescence in situ hybridization (FISH). Expectant management resulted in spontaneous leukemia resolution. The identification of t(8;16)(p11.2;p13.3) may serve as a biomarker for spontaneous remission in congenital AML. FISH for this translocation is warranted in congenital AML with a normal karyotype, and patients with KAT6A/CREBBP fusion should be conservatively managed. While 50% of spontaneously remitting congenital AML with t(8;16)(p11.2;p13.3) may recur, high salvage rates are attained with standard therapy.
authors.affiliation: Department of Pediatrics, IWK Health Centre/Dalhousie University, Halifax, Nova Scotia, Canada.
authors.forename: Rachel
authors.initials: R
authors.lastname: Barrett
authors.affiliation: Department of Pathology, IWK Health Centre/Dalhousie University, Halifax, Nova Scotia, Canada.
authors.forename: Barbara
authors.initials: B
authors.lastname: Morash
authors.affiliation: Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
authors.forename: David
authors.initials: D
authors.lastname: Roback
authors.affiliation: Department of Pathology, IWK Health Centre/Dalhousie University, Halifax, Nova Scotia, Canada.
authors.forename: Chantale
authors.initials: C
authors.lastname: Pambrun
authors.affiliation: Division of Hematology/Oncology, Department of Pediatrics, IWK Health Centre, Halifax, Nova Scotia, Canada.
authors.forename: Lesley
authors.initials: L
authors.lastname: Marfleet
authors.affiliation: Division of Hematopathology, Mayo Clinic College of Medicine, Rochester, Minnesota.
authors.forename: Rhett P
authors.initials: RP
authors.lastname: Ketterling
authors.affiliation: Department of Pathology, IWK Health Centre/Dalhousie University, Halifax, Nova Scotia, Canada.
authors.forename: Karen
authors.initials: K
authors.lastname: Harrison
authors.affiliation: Department of Pediatrics, IWK Health Centre/Dalhousie University, Halifax, Nova Scotia, Canada.|Department of Pathology, IWK Health Centre/Dalhousie University, Halifax, Nova Scotia, Canada.|Division of Hematology/Oncology, Department of Pediatrics, IWK Health Centre, Halifax, Nova Scotia, Canada.
authors.forename: Jason N
authors.initials: JN
authors.lastname: Berman
mesh_terms: D050882:CREB-Binding Protein / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D005260:Female; D051548:Histone Acetyltransferases / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D059785:Karyotype; D015470:Leukemia, Myeloid, Acute / Q000151:congenital* / Q000235:genetics*; D009365:Neoplasm Regression, Spontaneous / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D015514:Oncogene Proteins, Fusion; D050882:CREB-Binding Protein; C494363:CREBBP protein, human; D051548:Histone Acetyltransferases; C108712:KAT6A protein, human
keywords: AML; KAT6A/CREBBP; biomarker; congenital; t(8;16); translocation