Chromothripsis in a case of TP53-deficient chronic lymphocytic leukemia

Jianming Pei; Suresh C. Jhanwar; Joseph R. Testa

doi:10.1016/j.lrr.2012.09.001

Chromothripsis in a case of TP53-deficient chronic lymphocytic leukemia

Jianming Pei, Suresh C. Jhanwar, Joseph R. Testa

Cancer Prevention and Control (CPC)

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

Abstract

We describe genomic findings in a case of CLL with del(17p13.1) by FISH, in which SNP array analysis revealed chromothripsis, a phenomenon by which regions of the cancer genome are shattered and recombined to generate frequent oscillations between two DNA copy number states. The findings illustrate the value of SNP arrays for precise whole genome profiling in CLL and for the detection of alterations that would be overlooked with a standard FISH panel. This second report of chromothripsis in CLL indicates that this phenomenon is a recurrent change in this disease.

Original language	English
Pages (from-to)	4-6
Number of pages	3
Journal	Leukemia Research Reports
Volume	1
Issue number	1
DOIs	https://doi.org/10.1016/j.lrr.2012.09.001
State	Published - 2012

Keywords

Chromosome microarray analysis
Chromothripsis
Chronic lymphocytic leukemia
Genomic imbalances
P53

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.lrr.2012.09.001

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title = "Chromothripsis in a case of TP53-deficient chronic lymphocytic leukemia",

abstract = "We describe genomic findings in a case of CLL with del(17p13.1) by FISH, in which SNP array analysis revealed chromothripsis, a phenomenon by which regions of the cancer genome are shattered and recombined to generate frequent oscillations between two DNA copy number states. The findings illustrate the value of SNP arrays for precise whole genome profiling in CLL and for the detection of alterations that would be overlooked with a standard FISH panel. This second report of chromothripsis in CLL indicates that this phenomenon is a recurrent change in this disease.",

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AU - Pei, Jianming

AU - Jhanwar, Suresh C.

AU - Testa, Joseph R.

PY - 2012

Y1 - 2012

N2 - We describe genomic findings in a case of CLL with del(17p13.1) by FISH, in which SNP array analysis revealed chromothripsis, a phenomenon by which regions of the cancer genome are shattered and recombined to generate frequent oscillations between two DNA copy number states. The findings illustrate the value of SNP arrays for precise whole genome profiling in CLL and for the detection of alterations that would be overlooked with a standard FISH panel. This second report of chromothripsis in CLL indicates that this phenomenon is a recurrent change in this disease.

AB - We describe genomic findings in a case of CLL with del(17p13.1) by FISH, in which SNP array analysis revealed chromothripsis, a phenomenon by which regions of the cancer genome are shattered and recombined to generate frequent oscillations between two DNA copy number states. The findings illustrate the value of SNP arrays for precise whole genome profiling in CLL and for the detection of alterations that would be overlooked with a standard FISH panel. This second report of chromothripsis in CLL indicates that this phenomenon is a recurrent change in this disease.

KW - Chromosome microarray analysis

KW - Chromothripsis

KW - Chronic lymphocytic leukemia

KW - Genomic imbalances

KW - P53

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JO - Leukemia Research Reports

JF - Leukemia Research Reports

IS - 1

ER -

Chromothripsis in a case of TP53-deficient chronic lymphocytic leukemia

Abstract

Keywords

UN SDGs

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