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.

GTF2I mutations are common in thymic epithelial tumors but not in hematological malignancies

Ciabatti, Elena
Methodology
;
Pacini, Simone
Methodology
;
Galimberti, Sara
Conceptualization
;
Petrini, Iacopo
Conceptualization
2017-01-01

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.
Tarrini, Giulia; Ciabatti, Elena; Pacini, Simone; Galimberti, Sara; Petrini, Iacopo
File in questo prodotto:
File Dimensione Formato  
tarrini .pdf

solo utenti autorizzati

Tipologia: Versione finale editoriale
Licenza: NON PUBBLICO - Accesso privato/ristretto
Dimensione 198.86 kB
Formato Adobe PDF
198.86 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11568/878796
Citazioni
  • ???jsp.display-item.citation.pmc??? 5
  • Scopus 7
  • ???jsp.display-item.citation.isi??? 7
social impact