Volume 71, Issue 11 e31281
BRIEF REPORT

High-throughput sequencing of archival cerebrospinal fluid specimens defines B-lymphoblastic leukemia clonal composition

Karl Foley

Karl Foley

University of Rochester School of Medicine & Dentistry, Rochester, New York, USA

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Diana G. Adlowitz

Diana G. Adlowitz

Division of Hematology/Oncology, Department of Pediatrics, University of Rochester, Rochester, New York, USA

Department of Pathology and Laboratory Medicine, University of Rochester, Rochester, New York, USA

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Cameron Baker

Cameron Baker

Department of Biostatistics and Computational Biology, Genomics Research Center, University of Rochester, Rochester, New York, USA

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Philip J. Rock

Philip J. Rock

Department of Pathology and Laboratory Medicine, University of Rochester, Rochester, New York, USA

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Richard Burack

Richard Burack

Department of Pathology and Laboratory Medicine, University of Rochester, Rochester, New York, USA

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Carol Fries

Corresponding Author

Carol Fries

Division of Hematology/Oncology, Department of Pediatrics, University of Rochester, Rochester, New York, USA

Department of Pathology and Laboratory Medicine, University of Rochester, Rochester, New York, USA

Correspondence

Carol Fries, Division of Hematology/Oncology, Department of Pediatrics, 601 Elmwood Ave, Rochester, NY 14642, USA.

Email: [email protected]

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First published: 21 August 2024

Abstract

Detailed characterization of the B-lymphoblastic leukemia (B-ALL) cells which invade the central nervous system (CNS) has been limited by practical challenges. To test whether the clonal composition of the cerebrospinal fluid (CSF) reflects the primary B-ALL tissue, we applied immunoglobulin (Ig) high-throughput sequencing (HTS) of archival CSF cytospin preparations from six patients with morphologically defined CNS involvement. We discovered that most CSF clones are detectable at some timepoint in the primary tissue, but that shifting clonal abundance is prevalent across tissue sites between diagnosis and relapse. Ig HTS of CSF cytospins may improve understanding of sanctuary site dissemination in B-ALL.

CONFLICT OF INTEREST STATEMENT

The authors declare no conflicts of interest.

DATA AVAILABILITY STATEMENT

The IgH sequencing data that support the findings of this study are openly available in NCBI Sequence Read Archive (SRA) at https://submit.ncbi.nlm.nih.gov/subs/sra/SUB13935342/overview, reference number UB13935342.

The full text of this article hosted at iucr.org is unavailable due to technical difficulties.