PMID- 28097792 OWN - NLM STAT- MEDLINE DCOM- 20170914 LR - 20170914 IS - 1545-5017 (Electronic) IS - 1545-5009 (Linking) VI - 64 IP - 8 DP - 2017 Aug TI - 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. LID - 10.1002/pbc.26450 [doi] AB - 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. CI - (c) 2017 Wiley Periodicals, Inc. FAU - Barrett, Rachel AU - Barrett R AD - Department of Pediatrics, IWK Health Centre/Dalhousie University, Halifax, Nova Scotia, Canada. FAU - Morash, Barbara AU - Morash B AD - Department of Pathology, IWK Health Centre/Dalhousie University, Halifax, Nova Scotia, Canada. FAU - Roback, David AU - Roback D AD - Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada. FAU - Pambrun, Chantale AU - Pambrun C AD - Department of Pathology, IWK Health Centre/Dalhousie University, Halifax, Nova Scotia, Canada. FAU - Marfleet, Lesley AU - Marfleet L AD - Division of Hematology/Oncology, Department of Pediatrics, IWK Health Centre, Halifax, Nova Scotia, Canada. FAU - Ketterling, Rhett P AU - Ketterling RP AD - Division of Hematopathology, Mayo Clinic College of Medicine, Rochester, Minnesota. FAU - Harrison, Karen AU - Harrison K AD - Department of Pathology, IWK Health Centre/Dalhousie University, Halifax, Nova Scotia, Canada. FAU - Berman, Jason N AU - Berman JN AD - Department of Pediatrics, IWK Health Centre/Dalhousie University, Halifax, Nova Scotia, Canada. AD - Department of Pathology, IWK Health Centre/Dalhousie University, Halifax, Nova Scotia, Canada. AD - Division of Hematology/Oncology, Department of Pediatrics, IWK Health Centre, Halifax, Nova Scotia, Canada. LA - eng PT - Case Reports PT - Journal Article DEP - 20170118 PL - United States TA - Pediatr Blood Cancer JT - Pediatric blood & cancer JID - 101186624 RN - 0 (Oncogene Proteins, Fusion) RN - EC 2.3.1.48 (CREB-Binding Protein) RN - EC 2.3.1.48 (CREBBP protein, human) RN - EC 2.3.1.48 (Histone Acetyltransferases) RN - EC 2.3.1.48 (KAT6A protein, human) SB - IM MH - CREB-Binding Protein/*genetics MH - Chromosomes, Human, Pair 8/genetics MH - Female MH - Histone Acetyltransferases/*genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infant, Newborn MH - Karyotype MH - Leukemia, Myeloid, Acute/*congenital/*genetics MH - Neoplasm Regression, Spontaneous/*genetics MH - Oncogene Proteins, Fusion/genetics MH - Translocation, Genetic/*genetics OTO - NOTNLM OT - AML OT - KAT6A/CREBBP OT - biomarker OT - congenital OT - t(8;16) OT - translocation EDAT- 2017/01/18 06:00 MHDA- 2017/09/15 06:00 CRDT- 2017/01/19 06:00 PHST- 2016/09/26 00:00 [received] PHST- 2016/11/22 00:00 [revised] PHST- 2016/12/17 00:00 [accepted] PHST- 2017/01/18 06:00 [pubmed] PHST- 2017/09/15 06:00 [medline] PHST- 2017/01/19 06:00 [entrez] AID - 10.1002/pbc.26450 [doi] PST - ppublish SO - Pediatr Blood Cancer. 2017 Aug;64(8). doi: 10.1002/pbc.26450. Epub 2017 Jan 18.