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

Autor: Miller LJ; Department of Pathology, Medical College of Wisconsin, 8701 W. Watertown Plank Rd, Milwaukee, WI 53226, United States. Electronic address: lajmiller@mcw.edu., Leventaki V; Department of Pathology, Medical College of Wisconsin, 8701 W. Watertown Plank Rd, Milwaukee, WI 53226, United States. Electronic address: vleventaki@mcw.edu., Harker-Murray PD; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, United States. Electronic address: pharker@mcw.edu., Drendel HM; Carolinas Pathology Group, Charlotte, NC, United States. Electronic address: holli.drendel@atriumhealth.org., Bone KM; Department of Pathology, Medical College of Wisconsin, 8701 W. Watertown Plank Rd, Milwaukee, WI 53226, United States. Electronic address: kbone@mcw.edu.
Jazyk: angličtina
Zdroj: Cancer genetics [Cancer Genet] 2022 Apr; Vol. 262-263, pp. 43-46. Date of Electronic Publication: 2021 Dec 23.
DOI: 10.1016/j.cancergen.2021.12.005
Abstrakt: 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.
Competing Interests: Declaration of Competing Interest The authors have no conflicts of interest to disclose. This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
(Copyright © 2021 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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