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

doi:10.1007/s12308-019-00355-x

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 journal › Article › peer-review

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 language	English (US)
Pages (from-to)	99-104
Number of pages	6
Journal	Journal of Hematopathology
Volume	12
Issue number	2
DOIs	https://doi.org/10.1007/s12308-019-00355-x
State	Published - 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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10.1007/s12308-019-00355-x

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Peterson, J. F., Smoley, S. A., Luoma, I. M., Pitel, B. A., Rice, C. S., Benevides Demasi, J. C., Vasmatzis, G., Smadbeck, J. B., Yang, T., Greipp, P. T., Ketterling, R. P., & Baughn, L. B. (2019). Characterization of a cryptic KMT2A/AFF1 gene fusion by mate-pair sequencing (MPseq) in a young adult with newly diagnosed B-lymphoblastic leukemia. Journal of Hematopathology, 12(2), 99-104. https://doi.org/10.1007/s12308-019-00355-x

Peterson, JF, Smoley, SA, Luoma, IM, Pitel, BA, Rice, CS, Benevides Demasi, JC, Vasmatzis, G , Smadbeck, JB, Yang, T, Greipp, PT, Ketterling, RP & Baughn, LB 2019, 'Characterization of a cryptic KMT2A/AFF1 gene fusion by mate-pair sequencing (MPseq) in a young adult with newly diagnosed B-lymphoblastic leukemia', Journal of Hematopathology, vol. 12, no. 2, pp. 99-104. https://doi.org/10.1007/s12308-019-00355-x

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

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.",

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

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

note = "Publisher Copyright: {\textcopyright} 2019, Springer-Verlag GmbH Germany, part of Springer Nature.",

year = "2019",

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doi = "10.1007/s12308-019-00355-x",

language = "English (US)",

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AU - Peterson, Jess F.

AU - Smoley, Stephanie A.

AU - Luoma, Ivy M.

AU - Pitel, Beth A.

AU - Rice, Christopher S.

AU - Benevides Demasi, Jonna C.

AU - Vasmatzis, George

AU - Smadbeck, James B.

AU - Yang, Tong

AU - Greipp, Patricia T.

AU - Ketterling, Rhett P.

AU - Baughn, Linda B.

PY - 2019/6/1

Y1 - 2019/6/1

N2 - 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.

AB - 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.

KW - AFF1(AF4)

KW - B-lymphoblastic leukemia/lymphoma (B-ALL/LBL)

KW - KMT2A(MLL)

KW - Mate-pair sequencing (MPseq)

KW - Next-generation sequencing (NGS)

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

Abstract

Keywords

ASJC Scopus subject areas

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