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PAX5-KIAA1549L: a novel fusion gene in a case of pediatric B-cell precursor acute lymphoblastic leukemia.

ABSTRACT: BACKGROUND:In B-cell precursor acute lymphoblastic leukemia (BCP-ALL) PAX5, a transcription factor pivotal for B-cell commitment and maintenance, is frequently affected by genetic alterations. In 2-3 % of the cases PAX5 rearrangements result in the expression of oncogenic fusion genes. The encoded chimeric proteins consist of the N-terminal PAX5 DNA-binding paired domain, which is fused to the C-terminal domains of a remarkable heterogeneous group of partner proteins. RESULTS:Employing fluorescence in situ hybridization and molecular methods PAX5-KIAA1549L was identified as novel fusion gene in a case of pediatric BCP-ALL. CONCLUSION:Our report underlines the high diversity of PAX5 fusion partners in BCP-ALL and we describe the second involvement of KIAA1549L in a genetic rearrangement in acute leukemia.

SUBMITTER: Anderl S

PROVIDER: S-EPMC4495688 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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PAX5-KIAA1549L: a novel fusion gene in a case of pediatric B-cell precursor acute lymphoblastic leukemia.

Anderl Stefanie S König Margit M Attarbaschi Andishe A Strehl Sabine S

Molecular cytogenetics 20150708

<h4>Background</h4>In B-cell precursor acute lymphoblastic leukemia (BCP-ALL) PAX5, a transcription factor pivotal for B-cell commitment and maintenance, is frequently affected by genetic alterations. In 2-3 % of the cases PAX5 rearrangements result in the expression of oncogenic fusion genes. The encoded chimeric proteins consist of the N-terminal PAX5 DNA-binding paired domain, which is fused to the C-terminal domains of a remarkable heterogeneous group of partner proteins.<h4>Results</h4>Empl ...[more]

PMID: 26157485

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