Detection of a Cryptic EP300/ZNF384 Gene Fusion by Chromosomal Microarray and Next-Generation Sequencing Studies in a Pediatric Patient with B-Lymphoblastic Leukemia

Holly E. Berg; Patrick R. Blackburn; James B. Smadbeck; Kirsten E. Swanson; Christopher S. Rice; Matthew R. Webley; Sarah H. Johnson; George Vasmatzis; Xinjie Xu; Patricia T. Greipp; Nicole L. Hoppman; Rhett P. Ketterling; Linda B. Baughn; Catherine H. Boston; Lisa M. Sutton; Jess F. Peterson

doi:10.1093/labmed/lmaa085

Detection of a Cryptic EP300/ZNF384 Gene Fusion by Chromosomal Microarray and Next-Generation Sequencing Studies in a Pediatric Patient with B-Lymphoblastic Leukemia

Holly E. Berg, Patrick R. Blackburn, James B. Smadbeck, Kirsten E. Swanson, Christopher S. Rice, Matthew R. Webley, Sarah H. Johnson, George Vasmatzis, Xinjie Xu, Patricia T. Greipp, Nicole L. Hoppman, Rhett P. Ketterling, Linda B. Baughn, Catherine H. Boston, Lisa M. Sutton, Jess F. Peterson

Research output: Contribution to journal › Article › peer-review

Abstract

Zinc-finger protein 384 (ZNF384) gene fusions with EP300 have recently been described as a recurrent fusion in B-cell acute lymphoblastic leukemia (B-ALL) with a good response to conventional chemotherapy, suggesting a favorable prognosis. Herein, we report on a female patient aged 12 years with uninformative conventional chromosome and B-ALL panel fluorescence in situ hybridization studies with chromosomal microarray showing multiple copy number gains, including relative gains in the ZNF384 (12p13.31) and EP300 (22q13.2) gene regions, suggesting a cryptic EP300/ZNF384 fusion. Ultimately, a next-generation sequencing assay, mate pair sequencing, was utilized to confirm EP300/ZNF384 fusion in this B-ALL clone, which may confer a favorable overall prognosis and potential targeted therapy.

Original language	English (US)
Pages (from-to)	297-302
Number of pages	6
Journal	Laboratory Medicine
Volume	52
Issue number	3
DOIs	https://doi.org/10.1093/labmed/lmaa085
State	Published - May 1 2021

Keywords

B-cell acute lymphoblastic leukemia (B-ALL)
EP300
ZNF384
chromosomal microarray
mate pair sequencing
next-generation sequencing

ASJC Scopus subject areas

General Medicine

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10.1093/labmed/lmaa085

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Berg, H. E., Blackburn, P. R., Smadbeck, J. B., Swanson, K. E., Rice, C. S., Webley, M. R., Johnson, S. H., Vasmatzis, G., Xu, X., Greipp, P. T., Hoppman, N. L., Ketterling, R. P., Baughn, L. B., Boston, C. H., Sutton, L. M., & Peterson, J. F. (2021). Detection of a Cryptic EP300/ZNF384 Gene Fusion by Chromosomal Microarray and Next-Generation Sequencing Studies in a Pediatric Patient with B-Lymphoblastic Leukemia. Laboratory Medicine, 52(3), 297-302. https://doi.org/10.1093/labmed/lmaa085

Berg, HE, Blackburn, PR, Smadbeck, JB, Swanson, KE, Rice, CS, Webley, MR, Johnson, SH, Vasmatzis, G, Xu, X, Greipp, PT, Hoppman, NL, Ketterling, RP, Baughn, LB, Boston, CH, Sutton, LM & Peterson, JF 2021, 'Detection of a Cryptic EP300/ZNF384 Gene Fusion by Chromosomal Microarray and Next-Generation Sequencing Studies in a Pediatric Patient with B-Lymphoblastic Leukemia', Laboratory Medicine, vol. 52, no. 3, pp. 297-302. https://doi.org/10.1093/labmed/lmaa085

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title = "Detection of a Cryptic EP300/ZNF384 Gene Fusion by Chromosomal Microarray and Next-Generation Sequencing Studies in a Pediatric Patient with B-Lymphoblastic Leukemia",

abstract = "Zinc-finger protein 384 (ZNF384) gene fusions with EP300 have recently been described as a recurrent fusion in B-cell acute lymphoblastic leukemia (B-ALL) with a good response to conventional chemotherapy, suggesting a favorable prognosis. Herein, we report on a female patient aged 12 years with uninformative conventional chromosome and B-ALL panel fluorescence in situ hybridization studies with chromosomal microarray showing multiple copy number gains, including relative gains in the ZNF384 (12p13.31) and EP300 (22q13.2) gene regions, suggesting a cryptic EP300/ZNF384 fusion. Ultimately, a next-generation sequencing assay, mate pair sequencing, was utilized to confirm EP300/ZNF384 fusion in this B-ALL clone, which may confer a favorable overall prognosis and potential targeted therapy.",

keywords = "B-cell acute lymphoblastic leukemia (B-ALL), EP300, ZNF384, chromosomal microarray, mate pair sequencing, next-generation sequencing",

author = "Berg, {Holly E.} and Blackburn, {Patrick R.} and Smadbeck, {James B.} and Swanson, {Kirsten E.} and Rice, {Christopher S.} and Webley, {Matthew R.} and Johnson, {Sarah H.} and George Vasmatzis and Xinjie Xu and Greipp, {Patricia T.} and Hoppman, {Nicole L.} and Ketterling, {Rhett P.} and Baughn, {Linda B.} and Boston, {Catherine H.} and Sutton, {Lisa M.} and Peterson, {Jess F.}",

note = "Publisher Copyright: {\textcopyright} 2020 ",

year = "2021",

month = may,

day = "1",

doi = "10.1093/labmed/lmaa085",

language = "English (US)",

volume = "52",

pages = "297--302",

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AU - Berg, Holly E.

AU - Blackburn, Patrick R.

AU - Smadbeck, James B.

AU - Swanson, Kirsten E.

AU - Rice, Christopher S.

AU - Webley, Matthew R.

AU - Johnson, Sarah H.

AU - Vasmatzis, George

AU - Xu, Xinjie

AU - Greipp, Patricia T.

AU - Hoppman, Nicole L.

AU - Ketterling, Rhett P.

AU - Baughn, Linda B.

AU - Boston, Catherine H.

AU - Sutton, Lisa M.

AU - Peterson, Jess F.

PY - 2021/5/1

Y1 - 2021/5/1

N2 - Zinc-finger protein 384 (ZNF384) gene fusions with EP300 have recently been described as a recurrent fusion in B-cell acute lymphoblastic leukemia (B-ALL) with a good response to conventional chemotherapy, suggesting a favorable prognosis. Herein, we report on a female patient aged 12 years with uninformative conventional chromosome and B-ALL panel fluorescence in situ hybridization studies with chromosomal microarray showing multiple copy number gains, including relative gains in the ZNF384 (12p13.31) and EP300 (22q13.2) gene regions, suggesting a cryptic EP300/ZNF384 fusion. Ultimately, a next-generation sequencing assay, mate pair sequencing, was utilized to confirm EP300/ZNF384 fusion in this B-ALL clone, which may confer a favorable overall prognosis and potential targeted therapy.

AB - Zinc-finger protein 384 (ZNF384) gene fusions with EP300 have recently been described as a recurrent fusion in B-cell acute lymphoblastic leukemia (B-ALL) with a good response to conventional chemotherapy, suggesting a favorable prognosis. Herein, we report on a female patient aged 12 years with uninformative conventional chromosome and B-ALL panel fluorescence in situ hybridization studies with chromosomal microarray showing multiple copy number gains, including relative gains in the ZNF384 (12p13.31) and EP300 (22q13.2) gene regions, suggesting a cryptic EP300/ZNF384 fusion. Ultimately, a next-generation sequencing assay, mate pair sequencing, was utilized to confirm EP300/ZNF384 fusion in this B-ALL clone, which may confer a favorable overall prognosis and potential targeted therapy.

KW - B-cell acute lymphoblastic leukemia (B-ALL)

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KW - chromosomal microarray

KW - mate pair sequencing

KW - next-generation sequencing

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Detection of a Cryptic EP300/ZNF384 Gene Fusion by Chromosomal Microarray and Next-Generation Sequencing Studies in a Pediatric Patient with B-Lymphoblastic Leukemia

Abstract

Keywords

ASJC Scopus subject areas

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