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

Pediatr Blood Cancer. 2017 Aug;64(8). doi: 10.1002/pbc.26450. Epub 2017 Jan 18.

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.

Keywords: AML; KAT6A/CREBBP; biomarker; congenital; t(8;16); translocation.

Publication types

  • Case Reports

MeSH terms

  • CREB-Binding Protein / genetics*
  • Chromosomes, Human, Pair 8 / genetics
  • Female
  • Histone Acetyltransferases / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Karyotype
  • Leukemia, Myeloid, Acute / congenital*
  • Leukemia, Myeloid, Acute / genetics*
  • Neoplasm Regression, Spontaneous / genetics*
  • Oncogene Proteins, Fusion / genetics
  • Translocation, Genetic / genetics*

Substances

  • Oncogene Proteins, Fusion
  • CREB-Binding Protein
  • CREBBP protein, human
  • Histone Acetyltransferases
  • KAT6A protein, human