Barrett Rachel, Morash Barbara, Roback David, Pambrun Chantale, Marfleet Lesley, Ketterling Rhett P, Harrison Karen, Berman Jason N
Department of Pediatrics, IWK Health Centre/Dalhousie University, Halifax, Nova Scotia, Canada.
Department of Pathology, IWK Health Centre/Dalhousie University, Halifax, Nova Scotia, Canada.
Pediatr Blood Cancer. 2017 Aug;64(8). doi: 10.1002/pbc.26450. Epub 2017 Jan 18.
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.
细胞遗传学可为小儿急性髓系白血病（AML）的危险分层提供依据。我们描述了首例患有皮肤白血病的新生儿，经检测发现其AML存在隐匿性插入性t(8;16)(p11.2;p13.3)，并通过荧光原位杂交（FISH）专门鉴定出相关的KAT6A/CREBBP融合基因。期待性治疗导致白血病自发缓解。t(8;16)(p11.2;p13.3)的鉴定可能作为先天性AML自发缓解的生物标志物。对于核型正常的先天性AML，有必要进行该易位的FISH检测，对于KAT6A/CREBBP融合基因的患者应采取保守治疗。虽然50%携带t(8;16)(p11.2;p13.3)的先天性AML自发缓解后可能复发，但标准治疗可获得较高的挽救率。
