Zhan Su, Yahui Du, Chenglu Yuan, Xianzhi Zhao, Xiaoshan Zhang, Hongqing Cui, Ting Yue, Hongguo Zhao, Wei Wang
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引用次数: 0
Abstract
Fusion genes generally serve as driver mutations in leukemia. The rearrangement of the RARA gene located on chromosome 17q21 is a molecular pathological feature of acute promyelocytic leukemia (APL). A series of RARA-involved fusion genes have been identified in variant APL, including one carrying the t(11;17)(q13;q21) translocation, resulting in the NUMA1::RARA fusion gene. Here, we present an interesting case where blasts carry the t(11;17)(q13;q21), but the cell morphology does not exhibit signs of promyelocytic differentiation. Transcriptome sequencing identified a novel fusion gene, RAB6A::TOP2A, with a frameshift mutation in the reading frame. The patient did not respond to all-trans retinoic acid (ATRA) treatment.
期刊介绍：
Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.
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