Case Report: Rare Gene Fusions Identified in Neonate with Congenital -Rearranged Acute Lymphoblastic Leukemia

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2023 Feb 25

PMID 36833191

Authors

Laura N Eadie

Jacqueline A Rehn

James Breen

Michael P Osborn

Sophie Jessop

Charlotte E J Downes

Susan L Heatley

Barbara J McClure

David T Yeung

Tamas Revesz

Benjamin Saxon

Deborah L White

Affiliations

Soon will be listed here.

Abstract

Chromosomal rearrangements involving the gene occur frequently in acute lymphoblastic leukaemia (ALL). -rearranged ALL ( ALL) has poor long-term survival rates and is the most common ALL subtype in infants less than 1 year of age. ALL frequently occurs with additional chromosomal abnormalities including disruption of the gene, usually by exon deletion. Typically, ALL in infants is accompanied by a limited number of cooperative le-sions. Here we report a case of aggressive infant ALL harbouring additional rare gene fusions. Comprehensive genomic and transcriptomic analyses were performed on sequential samples. This report highlights the genomic complexity of this particular disease and describes the novel gene fusions and .

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