' '
Deutsch | English    

Forschungsdatenbank PMU-SQQUID

RT-PCR and FISH analysis of acute myeloid leukemia with t(8;16)(p11;p13) and chimeric MOZ and CBP transcripts: breakpoint cluster region and clinical implications.
Schmidt, HH; Strehl, S; Thaler, D; Strunk, D; Sill, H; Linkesch, W; Jager, U; Sperr, W; Greinix, HT; Konig, M; Emberger, W; Haas, O
LEUKEMIA. 2004; 18(6): 1115-1121.
Originalarbeiten (Zeitschrift)

PMU-Autor/inn/en

Strunk Dirk

Abstract

The translocation t(8; 16)(p11; p13) is associated with acute myeloid leukemia displaying monocytic differentiation (AML FAB M4/5) and fuses the MOZ ( also named MYST3) gene (8p11) with the CBP ( also named CREBBP) gene (16p13). Detection of the chimeric RNA fusions has proven difficult; only three studies have described successful amplification of the chimeric MOZ-CBP and CBP-MOZ fusions by reverse transcriptase-polymerase chain reaction (RT-PCR). We analyzed four cases of AML M4/5 with t( 8; 16)( p11; p13) by RT-PCR and fluorescence in situ hybridization ( FISH) and characterized the reciprocal RNA fusions from three cases. We cloned both genomic translocation breakpoints from one case by long-range PCR and successfully applied RT-PCR to monitor minimal residual disease (MRD) between clinical complete remission and relapse. In three cases, the genomic breakpoints occurred in MOZ intron 16 and CBP intron 2. In one case, no fusion transcript was detected. The available data suggest clustering of t( 8; 16)( p11; p13) breakpoints in these introns leading to reciprocal in-frame MOZ exon 16/CBP exon 3 and in-frame CBP exon 2/MOZ exon 17 chimeric transcripts in the majority of cases. The described RT-PCR strategy may be valuable both for the routine detection of the t( 8; 16)( p11; p13) as well as for monitoring of MRD in this prognostically unfavorable patient group.


Useful keywords (using NLM MeSH Indexing)

Acetyltransferases/genetics

Acute Disease

Adolescent

Adult

Aged

CREB-Binding Protein

Cell Differentiation

Chimera

Chromosomes, Human, Pair 16*

Chromosomes, Human, Pair 8*

Female

Histone Acetyltransferases

Humans

In Situ Hybridization, Fluorescence

Introns

Leukemia, Myeloid/genetics*

Leukemia, Myeloid/pathology

Male

Middle Aged

Monocytes/pathology

Neoplasm, Residual/genetics

Neoplasm, Residual/pathology

Nuclear Proteins/genetics

Prognosis

Reverse Transcriptase Polymerase Chain Reaction

Trans-Activators/genetics

Translocation, Genetic*


Find related publications in this database (Keywords)

AML
MOZ
CBP
minimal residual disease
RT-PCR