Detection of a cryptic NUP214/ABL1 gene fusion by mate-pair sequencing (MPseq) in a newly diagnosed case of pediatric T-lymphoblastic leukemia

Jess F. Peterson, Beth A. Pitel, Stephanie A. Smoley, James B. Smadbeck, Sarah H. Johnson, George Vasmatzis, Sarah J. Koon, Matthew R. Webley, Mary McGrath, Michael G. Bayerl, Linda B. Baughn, Ross A. Rowsey, Rhett P. Ketterling, Patricia T. Greipp, Nicole L. Hoppman

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematopoietic neoplasm involving the bone marrow and blood that accounts for ∼15% of childhood and 25% of adult ALL. Whereas multiple, recurrent genetic abnormalities have been described in T-ALL, their clinical significance is unclear or controversial. Importantly, ABL1 rearrangements, most commonly described in BCR/ABL1-positive B-ALL and BCR-ABL1-like B-ALL, have been observed in T-ALL and may respond to tyrosine kinase inhibitor (TKI) therapy. We describe a newly diagnosed case of pediatric T-ALL with a fluorescence in situ hybridization abnormality suggesting a partial ABL1 deletion by a BCR/ABL1 dual-color dualfusion probe but that demonstrated a normal result using an ABL1 break-apart probe. Mate-pair sequencing (MPseq), a next-generation sequencing (NGS)-based technology utilized to detect copy number and structural abnormalities with high resolution and precision throughout the genome, was performed and revealed a NUP214/ABL1 gene fusion that has been demonstrated to be sensitive to TKI therapy. This case demonstrates the power of MPseq to resolve chromosomal abnormalities unappreciable by traditional cytogenetic methodologies and highlights the clinical value of this novel NGS-based technology.

Original languageEnglish (US)
Article numbera003533
JournalCold Spring Harbor Molecular Case Studies
Volume5
Issue number2
DOIs
StatePublished - 2019

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Genetics
  • Genetics(clinical)

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    Peterson, J. F., Pitel, B. A., Smoley, S. A., Smadbeck, J. B., Johnson, S. H., Vasmatzis, G., Koon, S. J., Webley, M. R., McGrath, M., Bayerl, M. G., Baughn, L. B., Rowsey, R. A., Ketterling, R. P., Greipp, P. T., & Hoppman, N. L. (2019). Detection of a cryptic NUP214/ABL1 gene fusion by mate-pair sequencing (MPseq) in a newly diagnosed case of pediatric T-lymphoblastic leukemia. Cold Spring Harbor Molecular Case Studies, 5(2), [a003533]. https://doi.org/10.1101/mcs.a003533