Miller Lauren J, Leventaki Vasiliki, Harker-Murray Paul D, Drendel Holli M, Bone Kathleen M
Department of Pathology, Medical College of Wisconsin, 8701 W. Watertown Plank Rd, Milwaukee, WI 53226, United States.
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, United States.
Cancer Genet. 2022 Apr;262-263:43-46. doi: 10.1016/j.cancergen.2021.12.005. Epub 2021 Dec 23.
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.
KMT2A::AFF3融合基因，t(2;11)(q11.2;q23.2)，是一种在小儿B细胞急性淋巴细胞白血病（B-ALL）中出现的极为罕见的融合基因。我们的患者是一名2岁男性，出现间歇性发热三周。骨髓活检显示82%为原始细胞，细胞遗传学分析显示涉及KMT2A和一个未知融合伴侣的复杂三向染色体重排。分子检测确定融合伴侣为AFF3、一种FLT3-TKD非D835突变以及一种NF1突变。该病例展示了一种高度复杂的三向变异易位，导致罕见的KMT2A::AFF3融合基因，此前文献中仅描述过少数病例。
