A complex KMT2A::AFF3 fusion resulting from a three-way chromosomal rearrangement in pediatric B lymphoblastic leukemia

Lauren J. Miller; Vasiliki Leventaki; Paul D. Harker-Murray; Holli M. Drendel; Kathleen M. Bone

doi:10.1016/j.cancergen.2021.12.005

A complex KMT2A::AFF3 fusion resulting from a three-way chromosomal rearrangement in pediatric B lymphoblastic leukemia

Lauren J. Miller, Vasiliki Leventaki, Paul D. Harker-Murray, Holli M. Drendel, Kathleen M. Bone

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

Abstract

The KMT2A::AFF3 fusion, t(2;11)(q11.2;q23.2), is a very rare fusion occurring in pediatric B-cell acute lymphoblastic leukemia (B-ALL). Our patient is a 2-year-old male who presented with three weeks of intermittent fever. Bone marrow biopsy showed 82% blasts and cytogenetic analysis demonstrated a complex 3-way chromosomal rearrangement involving KMT2A and an unknown fusion partner. Molecular testing identified the fusion partner as AFF3, a FLT3-TKD non-D835 mutation, and an NF1 mutation. This case demonstrates a highly complex three-way variant translocation resulting in the rare KMT2A::AFF3 fusion with only a few cases previously described in the literature.

Original language	English (US)
Pages (from-to)	43-46
Number of pages	4
Journal	Cancer Genetics
Volume	262-263
DOIs	https://doi.org/10.1016/j.cancergen.2021.12.005
State	Published - Apr 2022
Externally published	Yes

ASJC Scopus subject areas

Molecular Biology
Genetics
Cancer Research

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10.1016/j.cancergen.2021.12.005

Cite this

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title = "A complex KMT2A::AFF3 fusion resulting from a three-way chromosomal rearrangement in pediatric B lymphoblastic leukemia",

abstract = "The KMT2A::AFF3 fusion, t(2;11)(q11.2;q23.2), is a very rare fusion occurring in pediatric B-cell acute lymphoblastic leukemia (B-ALL). Our patient is a 2-year-old male who presented with three weeks of intermittent fever. Bone marrow biopsy showed 82% blasts and cytogenetic analysis demonstrated a complex 3-way chromosomal rearrangement involving KMT2A and an unknown fusion partner. Molecular testing identified the fusion partner as AFF3, a FLT3-TKD non-D835 mutation, and an NF1 mutation. This case demonstrates a highly complex three-way variant translocation resulting in the rare KMT2A::AFF3 fusion with only a few cases previously described in the literature.",

author = "Miller, {Lauren J.} and Vasiliki Leventaki and Harker-Murray, {Paul D.} and Drendel, {Holli M.} and Bone, {Kathleen M.}",

note = "Publisher Copyright: {\textcopyright} 2021 Elsevier Inc.",

year = "2022",

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doi = "10.1016/j.cancergen.2021.12.005",

language = "English (US)",

volume = "262-263",

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journal = "Cancer Genetics",

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T1 - A complex KMT2A::AFF3 fusion resulting from a three-way chromosomal rearrangement in pediatric B lymphoblastic leukemia

AU - Miller, Lauren J.

AU - Leventaki, Vasiliki

AU - Harker-Murray, Paul D.

AU - Drendel, Holli M.

AU - Bone, Kathleen M.

PY - 2022/4

Y1 - 2022/4

N2 - The KMT2A::AFF3 fusion, t(2;11)(q11.2;q23.2), is a very rare fusion occurring in pediatric B-cell acute lymphoblastic leukemia (B-ALL). Our patient is a 2-year-old male who presented with three weeks of intermittent fever. Bone marrow biopsy showed 82% blasts and cytogenetic analysis demonstrated a complex 3-way chromosomal rearrangement involving KMT2A and an unknown fusion partner. Molecular testing identified the fusion partner as AFF3, a FLT3-TKD non-D835 mutation, and an NF1 mutation. This case demonstrates a highly complex three-way variant translocation resulting in the rare KMT2A::AFF3 fusion with only a few cases previously described in the literature.

AB - The KMT2A::AFF3 fusion, t(2;11)(q11.2;q23.2), is a very rare fusion occurring in pediatric B-cell acute lymphoblastic leukemia (B-ALL). Our patient is a 2-year-old male who presented with three weeks of intermittent fever. Bone marrow biopsy showed 82% blasts and cytogenetic analysis demonstrated a complex 3-way chromosomal rearrangement involving KMT2A and an unknown fusion partner. Molecular testing identified the fusion partner as AFF3, a FLT3-TKD non-D835 mutation, and an NF1 mutation. This case demonstrates a highly complex three-way variant translocation resulting in the rare KMT2A::AFF3 fusion with only a few cases previously described in the literature.

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A complex KMT2A::AFF3 fusion resulting from a three-way chromosomal rearrangement in pediatric B lymphoblastic leukemia

Abstract

ASJC Scopus subject areas

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