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A novel germline PAX5 single exon deletion in a pediatric patient with precursor B-cell leukemia

5 Aug 2023

Abstract excerpt

Germline investigation in rare families with multiple affected individuals and large cohorts of pediatric patients with acute lymphoblastic leukemia (ALL) has resulted in the discovery of a growing number of leukemia predisposing genes [ 1 , 2 ]. A rare leukemia predisposition syndrome is caused by germline mutations in PAX5 . Paired box 5 (PAX5) encodes for a paired box domain transcriptional factor essential...

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PMID: 37543654
DOI: 10.1038/s41375-023-01991-0

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