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Gene of the month: GTF2I
  1. Shrinidhi Nathany1,
  2. Rupal Tripathi2,
  3. Anurag Mehta3
  1. 1Molecular Diagnostics, Rajiv Gandhi Cancer Institute and Research Centre, Delhi, India
  2. 2Department of Research, Rajiv Gandhi Cancer Institute and Research Centre, Delhi, India
  3. 3Department of Laboratory Services, Molecular Diagnostics and Transfusion Medicine, Rajiv Gandhi Cancer Institute and Research Centre, Delhi, India
  1. Correspondence to Dr Anurag Mehta, Department of Laboratory Services, Molecular Diagnostics and Transfusion Medicine, Rajiv Gandhi Cancer Institute and Research Centre, New Delhi 110085, Delhi, India; anumehta11{at}gmail.com

Abstract

The GTF2I is a general transcription factor and its mutations have been reported to be recurrent in thymic epithelial tumours and are rare in other malignancies. Apart from thymic epithelial tumours, these mutations have also been reported in a subgroup of T cell lymphomas, angioimmunoblastic T cell lymphomas. Soft tissue angiofibroma has been reported to harbour GTF2I-NCOA2 fusion, whereas GTF2I partners with Retinoic acid receptor alpha (RARA) in acute promyelocytic leukaemia as GTF2I-RARA. GTF2I has also been implicated in immune disorders and two neuropsychiatric genetic disorders, namely autism and Williams-Beuren syndrome. The various structural, biochemical and functional properties of GTF2I suggest towards the oncogenic nature of this gene. Studies involving patients are presently few and the availability of biospecimens amenable to molecular diagnostic studies is limited. Future studies involving biospecimens and transformed cell lines shall provide a clear understanding of the GTF2I mechanistic to eventually lead to targeted treatment.

  • oncogenes
  • genetics
  • genes
  • neoplasm
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Footnotes

  • Handling editor Runjan Chetty.

  • SN and RT contributed equally.

  • Contributors SN and RT: review of literature, writing the review. AM: conceptualisation, review of literature, writing the review.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; internally peer reviewed.

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