在伴有染色体数目异常的血液系统恶性肿瘤中不存在 FGFR3-TACC3 重排。
Absence of FGFR3-TACC3 rearrangement in hematological malignancies with numerical chromosomal alteration.
机构信息
Neuro-oncohematology Unit, IRCCS Santa Lucia Foundation, Rome, Italy; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy; Deparment of Molecular Medicine, University of Pavia, Pavia, Italy.
出版信息
Hematol Oncol Stem Cell Ther. 2021 Jun;14(2):163-168. doi: 10.1016/j.hemonc.2020.02.005. Epub 2020 Mar 16.
FGFR-TACC, found in different tumor types, is characterized by the fusion of a member of fibroblast grown factor receptor (FGFR) tyrosine kinase (TK) family to a member of the transforming acidic coiled-coil (TACC) proteins. Because chromosome numerical alterations, hallmarks of FGFR-TACC fusions are present in many hematological disorders and there are no data on the prevalence, we studied a series of patients with acute myeloid leukemia and myelodysplastic syndrome who presented numerical alterations using cytogenetic traditional analysis. None of the analyzed samples showed FGFR3-TACC3 gene fusion, so screening for this mutation at diagnosis is not recommended.
FGFR-TACC 存在于不同的肿瘤类型中，其特征是成纤维细胞生长因子受体 (FGFR) 酪氨酸激酶 (TK) 家族的成员与转化酸性卷曲螺旋 (TACC) 蛋白的成员融合。由于染色体数目改变，FGFR-TACC 融合是许多血液系统疾病的标志，目前尚无关于其患病率的数据，因此我们使用细胞遗传学传统分析研究了一系列表现出数目改变的急性髓系白血病和骨髓增生异常综合征患者。在分析的样本中均未显示 FGFR3-TACC3 基因融合，因此不建议在诊断时筛查该突变。
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