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CREBBP mutations in relapsed acute lymphoblastic leukaemia.

Charles G Mullighan¹, Jinghui Zhang, Lawryn H Kasper

¹Department of Pathology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.

|March 11, 2011

Summary

Relapsed acute lymphoblastic leukaemia (ALL) is deadly in young people. Genetic analysis reveals mutations in CREBBP and other genes that drive treatment resistance and disease relapse.

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Area of Science:

Genetics
Molecular Biology
Oncology

Background:

Relapsed acute lymphoblastic leukaemia (ALL) is a major cause of cancer death in young individuals.
The underlying biological factors contributing to treatment failure in ALL are not well understood.
Previous studies identified structural DNA alterations and genetic evolution from diagnosis to relapse in ALL.

Purpose of the Study:

To identify novel DNA sequence mutations in relapsed ALL.
To investigate the role of genetic alterations in treatment resistance and relapse.
To analyze the functional impact of identified mutations on gene regulation.

Main Methods:

Resequencing of 300 genes in matched diagnosis and relapse samples from 23 ALL patients.
Analysis of an extended cohort of 71 diagnosis-relapse cases and 270 non-relapse acute leukaemia cases.
Functional assays to assess the impact of mutations on histone acetylation and gene expression.

Main Results:

Identified 52 somatic non-synonymous mutations in 32 genes, including novel mutations in CREBBP, NCOR1, ERG, and SPI1.
Found CREBBP mutations (sequence or deletion) in 18.3% of relapsed cases, affecting histone acetyltransferase activity.
Observed that mutations acquired at relapse were sometimes present in subclones at diagnosis, suggesting a role in therapy resistance.

Conclusions:

Mutations targeting transcriptional and epigenetic regulation, particularly in CREBBP, are a significant mechanism of resistance in ALL.
These findings expand the understanding of genetic alterations in leukaemia.
Identifying these mutations may offer new therapeutic targets for relapsed ALL.