Characterization of a cryptic KMT2A/AFF1 gene fusion by mate-pair sequencing (MPseq) in a young adult with newly diagnosed B-lymphoblastic leukemia

Jess F. Peterson, Stephanie A. Smoley, Ivy M. Luoma, Beth A. Pitel, Christopher S. Rice, Jonna C. Benevides Demasi, George Vasmatzis, James B. Smadbeck, Tong Yang, Patricia T. Greipp, Rhett P. Ketterling, Linda B. Baughn

Research output: Contribution to journalArticle

Abstract

The detection of recurrent chromosomal rearrangements in B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) is critical for patient management decisions. We present a newly diagnosed case of B-ALL in a young adult with a cryptic KMT2A/AFF1 fusion that was unappreciable by conventional chromosome and fluorescence in situ hybridization (FISH) KMT2A break-apart probe studies. To further characterize this abnormality, a next-generation sequencing strategy, mate-pair sequencing (MPseq) was performed and characterized a cryptic, insertional rearrangement that created KMT2A/AFF1 gene fusion. This case highlights the superior precision and resolution capabilities of NGS when compared to traditional cytogenetic methodologies, including conventional chromosome and FISH studies.

Original languageEnglish (US)
Pages (from-to)99-104
Number of pages6
JournalJournal of Hematopathology
Volume12
Issue number2
DOIs
StatePublished - Jun 1 2019

Keywords

  • AFF1(AF4)
  • B-lymphoblastic leukemia/lymphoma (B-ALL/LBL)
  • KMT2A(MLL)
  • Mate-pair sequencing (MPseq)
  • Next-generation sequencing (NGS)

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology
  • Hematology

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