What question did this study set out to answer?

To characterize the spectrum of CXCR4 mutations and investigate their associated genomic alterations in patients with Waldenström macroglobulinemia.

October 22, 2015Clinical Cancer Research

Genomic Landscape of CXCR4 Mutations in Waldenström Macroglobulinemia

View Full Paper

Ask AI

Bookmark

Authors

SPStéphanie PoulainCentre National de la Recherche Scientifique CRChristophe RoumierCentre National de la Recherche Scientifique AVAurélie Venet-CaillaultInstitut de Biologie de Lille

Discussion

Member takes

Implication

Genomic profiling reveals distinct CXCR4 mutations and complex chromosomal aberrations in Waldenström macroglobulinemia, suggesting distinct genomic subgroups influencing therapy resistance.

Key Points

To characterize the spectrum of CXCR4 mutations and investigate their associated genomic alterations in patients with Waldenström macroglobulinemia.
Sequenced the two coding exons of CXCR4 in 98 patients with Waldenström macroglobulinemia using deep next-generation sequencing and Sanger sequencing.
Integrated sequencing data with SNP array profiles and mutational analysis of eight candidate genes in the TLR, RAS, and BCR pathways.
Heterozygous somatic CXCR4 mutations in the C-terminal domain occurred in 25% of patients, producing a truncated receptor linked to increased CXCR4 expression.
CXCR4 mutations belonged to the same clone as MYD88 L265P mutations but were mutually exclusive with CD79A/CD79B mutations in the BCR pathway.
A specific genomic signature characterized CXCR4-mutated cases, featuring greater overall genomic complexity along with chromosome 4 gain, Xq gain, and 6q deletion.

Cite This Study

Poulain et al. (2015) studied this question.

synapsesocial.com/papers/6a79565435e7b6bcc688f771 https://doi.org/10.1158/1078-0432.ccr-15-0646

View Full Paper

Ask AI

Bookmark

October 22, 2015Clinical Cancer Research

Genomic Landscape of CXCR4 Mutations in Waldenström Macroglobulinemia

View Full Paper

Ask AI

Bookmark

Authors

SPStéphanie PoulainCentre National de la Recherche Scientifique CRChristophe RoumierCentre National de la Recherche Scientifique AVAurélie Venet-CaillaultInstitut de Biologie de Lille

Discussion

Member takes

Implication

Genomic profiling reveals distinct CXCR4 mutations and complex chromosomal aberrations in Waldenström macroglobulinemia, suggesting distinct genomic subgroups influencing therapy resistance.

Key Points

To characterize the spectrum of CXCR4 mutations and investigate their associated genomic alterations in patients with Waldenström macroglobulinemia.
Sequenced the two coding exons of CXCR4 in 98 patients with Waldenström macroglobulinemia using deep next-generation sequencing and Sanger sequencing.
Integrated sequencing data with SNP array profiles and mutational analysis of eight candidate genes in the TLR, RAS, and BCR pathways.
Heterozygous somatic CXCR4 mutations in the C-terminal domain occurred in 25% of patients, producing a truncated receptor linked to increased CXCR4 expression.
CXCR4 mutations belonged to the same clone as MYD88 L265P mutations but were mutually exclusive with CD79A/CD79B mutations in the BCR pathway.
A specific genomic signature characterized CXCR4-mutated cases, featuring greater overall genomic complexity along with chromosome 4 gain, Xq gain, and 6q deletion.

Cite This Study

Poulain et al. (2015) studied this question.

synapsesocial.com/papers/6a79565435e7b6bcc688f771 https://doi.org/10.1158/1078-0432.ccr-15-0646

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

View Full Paper

Ask AI

Bookmark