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鉴定一名儿童急性未分化白血病患者中的新型 KMT2A/GIMAP8 基因融合。

Identification of a novel KMT2A/GIMAP8 gene fusion in a pediatric patient with acute undifferentiated leukemia.

机构信息

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

出版信息

Genes Chromosomes Cancer. 2021 Feb;60(2):108-111. doi: 10.1002/gcc.22902. Epub 2020 Oct 21.

Abstract

Acute undifferentiated leukemia (AUL) is a very rare hematologic neoplasm that expresses no markers specific for either myeloid or lymphoid lineages. While commonly observed in several acute leukemias, KMT2A rearrangements in AUL have been rarely reported in the literature. We report the third case to our knowledge of AUL harboring a KMT2A rearrangement. Furthermore, the KMT2A/GIMAP8 gene fusion identified in this case represents a novel KMT2A rearrangement.

摘要

急性未分化白血病(AUL)是一种非常罕见的血液系统肿瘤,不表达髓系或淋系特异性标志物。虽然在几种急性白血病中常见,但文献中很少报道 AUL 中存在 KMT2A 重排。我们报告了第三例已知的 AUL 伴 KMT2A 重排的病例。此外,该病例中鉴定的 KMT2A/GIMAP8 基因融合代表了一种新的 KMT2A 重排。

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