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Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

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Published on: August 23, 2024

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

Giulia Tarrini¹, Elena Ciabatti¹, Simone Pacini¹

¹Section of Hematology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

Anticancer Research

|October 7, 2017

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

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