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

Rachel Barrett, Barbara Morash, David Roback, Chantale Pambrun, Lesley Marfleet, Rhett P. Ketterling, Karen Harrison, Jason N. Berman

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish (US)
Article numbere26450
JournalPediatric Blood and Cancer
Volume64
Issue number8
DOIs
StatePublished - Aug 1 2017

Fingerprint

Fluorescence In Situ Hybridization
Karyotype
Acute Myeloid Leukemia
Leukemia
Spontaneous Remission
Cytogenetics
Biomarkers
Newborn Infant
Pediatrics
Therapeutics

Keywords

  • AML
  • biomarker
  • congenital
  • KAT6A/CREBBP
  • t(8;16)
  • translocation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

Cite this

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. / Barrett, Rachel; Morash, Barbara; Roback, David; Pambrun, Chantale; Marfleet, Lesley; Ketterling, Rhett P.; Harrison, Karen; Berman, Jason N.

In: Pediatric Blood and Cancer, Vol. 64, No. 8, e26450, 01.08.2017.

Research output: Contribution to journalArticle

Barrett, Rachel ; Morash, Barbara ; Roback, David ; Pambrun, Chantale ; Marfleet, Lesley ; Ketterling, Rhett P. ; Harrison, Karen ; Berman, Jason N. / 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. In: Pediatric Blood and Cancer. 2017 ; Vol. 64, No. 8.
@article{76134eecaaeb4c13984d35d42ebf42ab,
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.",
keywords = "AML, biomarker, congenital, KAT6A/CREBBP, t(8;16), translocation",
author = "Rachel Barrett and Barbara Morash and David Roback and Chantale Pambrun and Lesley Marfleet and Ketterling, {Rhett P.} and Karen Harrison and Berman, {Jason N.}",
year = "2017",
month = "8",
day = "1",
doi = "10.1002/pbc.26450",
language = "English (US)",
volume = "64",
journal = "Pediatric Blood and Cancer",
issn = "1545-5009",
publisher = "Wiley-Liss Inc.",
number = "8",

}

TY - JOUR

T1 - 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

AU - Barrett, Rachel

AU - Morash, Barbara

AU - Roback, David

AU - Pambrun, Chantale

AU - Marfleet, Lesley

AU - Ketterling, Rhett P.

AU - Harrison, Karen

AU - Berman, Jason N.

PY - 2017/8/1

Y1 - 2017/8/1

N2 - 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.

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.

KW - AML

KW - biomarker

KW - congenital

KW - KAT6A/CREBBP

KW - t(8;16)

KW - translocation

UR - http://www.scopus.com/inward/record.url?scp=85020667221&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85020667221&partnerID=8YFLogxK

U2 - 10.1002/pbc.26450

DO - 10.1002/pbc.26450

M3 - Article

C2 - 28097792

AN - SCOPUS:85020667221

VL - 64

JO - Pediatric Blood and Cancer

JF - Pediatric Blood and Cancer

SN - 1545-5009

IS - 8

M1 - e26450

ER -