A complex KMT2A::AFF3 fusion resulting from a three-way chromosomal rearrangement in pediatric B lymphoblastic leukemia. Cancer Genet 2022 Apr;262-263:43-46
Date
01/08/2022Pubmed ID
34995897DOI
10.1016/j.cancergen.2021.12.005Scopus ID
2-s2.0-85122276846 (requires institutional sign-in at Scopus site)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 List
Miller LJ, Leventaki V, Harker-Murray PD, Drendel HM, Bone KMAuthors
Kathleen M. Bone PhD Associate Professor in the Pathology department at Medical College of WisconsinPaul D. Harker-Murray MD, PhD Professor in the Pediatrics department at Medical College of Wisconsin
MESH terms used to index this publication - Major topics in bold
Child, PreschoolChromosome Aberrations
Gene Fusion
Humans
Lymphoma, Non-Hodgkin
Male
Myeloid-Lymphoid Leukemia Protein
Nuclear Proteins
Oncogene Proteins, Fusion
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Translocation, Genetic
