GTF2I Mutations Are Common in Thymic Epithelial Tumors But Not in Hematological Malignancies

Abstract

Background: 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.

Materials and methods: 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.

Results: We did not identify any GTF2I mutation in patients with hematological malignancies.

Conclusion: 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.

Keywords: GTF2I; leukemia; thymoma.