Tarrini Giulia, Ciabatti Elena, Pacini Simone, Galimberti Sara, Petrini Iacopo
Section of Hematology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
General Pathology, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy
Anticancer Res. 2017 Oct;37(10):5459-5462. doi: 10.21873/anticanres.11974.
Mutation of general transcription factor IIi (GTF2I) (chromosome 7 c.74146970T>A) is common in thymic epithelial tumors and is a candidate driver aberration for cancer growth. To our knowledge, this mutation has not been described in other diseases. We evaluated the presence of GTF2I mutation in hematological malignancies.
We sequenced samples from 31 patients with acute leukemia, 29 with chronic leukemia and 12 with myelodysplastic syndrome. The genomic fragment of exon 15 containing the hotspot of mutation was amplified using polymerase chain reaction (PCR) and sequenced.
We did not identify any GTF2I mutation in patients with hematological malignancies.
Even though our sample size was limited, our data and reports from the literature suggest that GTF2I mutation is not present or is uncommon in these diseases.
通用转录因子IIi（GTF2I）（染色体7 c.74146970T>A）突变在胸腺上皮肿瘤中很常见，是癌症生长的候选驱动畸变。据我们所知，这种突变在其他疾病中尚未见报道。我们评估了血液系统恶性肿瘤中GTF2I突变的存在情况。
我们对31例急性白血病患者、29例慢性白血病患者和12例骨髓增生异常综合征患者的样本进行了测序。使用聚合酶链反应（PCR）扩增包含突变热点的第15外显子的基因组片段并进行测序。
我们在血液系统恶性肿瘤患者中未发现任何GTF2I突变。
尽管我们的样本量有限，但我们的数据和文献报道表明，这些疾病中不存在或很少存在GTF2I突变。
