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

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 fluo...

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Bibliographic Details
Published in:Journal of hematopathology 2019-06, Vol.12 (2), p.99-104
Main Authors: Peterson, Jess F., Smoley, Stephanie A., Luoma, Ivy M., Pitel, Beth A., Rice, Christopher S., Benevides Demasi, Jonna C., Vasmatzis, George, Smadbeck, James B., Yang, Tong, Greipp, Patricia T., Ketterling, Rhett P., Baughn, Linda B.
Format: Article
Language:English
Subjects:
Case Report
Hematology
Medicine
Medicine & Public Health
Pathology
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Summary: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.
ISSN:1868-9256
1865-5785
DOI:10.1007/s12308-019-00355-x