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B-cell lymphoblastic leukemia in an adolescent with Dravet syndrome
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  • Seth J. Corey,
  • Mohamed Al Zobi,
  • Christian Hurtz,
  • Hrishikesh Mehta,
  • Stefanie Thomas
Seth J. Corey
Cleveland Clinic

Corresponding Author:[email protected]

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Mohamed Al Zobi
Cleveland Clinic
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Christian Hurtz
Fels Institute for Cancer Research & Molecular Biology
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Hrishikesh Mehta
Cleveland Clinic Lerner Research Institute
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Stefanie Thomas
Cleveland Clinic
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A 19 year-old adolescent girl with Dravet syndrome, characterized by complex seizure disorder and global developmental delay, presented with B-cell acute lymphoblastic leukemia. The genetic basis for her Dravet syndrome was a pathogenic variant in SCN1A, a sodium channel subunit. SCN1A is chiefly expressed in neuronal tissue, but bioinformatic analysis demonstrated its presence in B cell lineage. One estimate suggested that 10% of children with pediatric cancer have a germline predisposition involving proto-oncogenes or tumor suppressors. This number might be even higher should non-classical genetic variants, such as that encoding a sodium channel subunit, be considered.
03 Mar 2023Submission Checks Completed
03 Mar 2023Assigned to Editor
03 Mar 2023Submitted to Pediatric Blood & Cancer
06 Mar 2023Review(s) Completed, Editorial Evaluation Pending
06 Mar 2023Editorial Decision: Revise Minor
13 Mar 2023Submission Checks Completed
13 Mar 2023Assigned to Editor
13 Mar 20231st Revision Received
13 Mar 2023Review(s) Completed, Editorial Evaluation Pending
13 Mar 2023Editorial Decision: Accept