Clinical utility of next generation sequencing to detect IGH/IL3 rearrangements [t(5;14)(q31.1;q32.1)] in B-lymphoblastic leukemia/lymphoma

Adam J. Guenzel, James B. Smadbeck, Crystal L. Golden, Cynthia M. Williamson, Jonna C. Benevides Demasi, George Vasmatzis, Kathryn E. Pearce, Horatiu Olteanu, Xinjie Xu, Nicole L. Hoppman, Patricia T. Greipp, Linda B. Baughn, Rhett P. Ketterling, Jess F. Peterson

Research output: Contribution to journalArticlepeer-review


The t(5;14)(q31.1;q32.1) associated with B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) is a rare, recurrent genetic abnormality recognized as a distinct entity by the 2017 World Health Organization (WHO) classification. In these cases, the IGH enhancer region (14q32.1) is juxtaposed to the vicinity of the IL3 gene (5q31.1), resulting in increased production of interleukin-3 (IL3) and subsequently a characteristic reactive eosinophilia. B-ALL with t(5;14)(q31.1;q32.1) may have a low lymphoblast count that can complicate detection of t(5;14)(q31.1;q32.1) by conventional chromosome studies. We have identified four patients with IGH/IL3 rearrangements despite normal conventional chromosome studies in each case [one patient had a non-clonal t(5;14)(q31;q32) finding]. Fluorescence in situ hybridization utilizing a laboratory-developed IGH break-apart probe set identified IGH rearrangements in three of four cases, and a next generation sequencing (NGS) based assay, mate-pair sequencing (MPseq), was required to characterize the IGH/IL3 rearrangements in each case. Three patients demonstrated a balanced t(5;14)(q31.1;q32.1) while one patient had a cryptic insertion of the IL3 gene into the IGH region. These results demonstrate that NGS-based assays, such as MPseq, confer an advantage in the detection of IGH/IL3 rearrangements that are otherwise challenging to characterize by traditional cytogenetic methodologies.

Original languageEnglish (US)
Article number151761
JournalAnnals of Diagnostic Pathology
StatePublished - Aug 2021


  • B-lymphoblastic leukemia/lymphoma (B-ALL/LBL)
  • IGH
  • IL3
  • Mate-pair sequencing (MPseq)
  • Next generation sequencing (NGS)

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


Dive into the research topics of 'Clinical utility of next generation sequencing to detect IGH/IL3 rearrangements [t(5;14)(q31.1;q32.1)] in B-lymphoblastic leukemia/lymphoma'. Together they form a unique fingerprint.

Cite this