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<p>This study intended to uncover any potential variations in TP53 gene particularly the exons 3–7 as this region is reported to have abundant oncogenic variations with adverse impacts on its structural stability and functional activities. The selected region of TP53 was amplified in ninety de novo AML patients and amplicons were Sanger sequenced to analyze possible nucleotide variations. Ten (10) mutations were found in the coding region of the TP53 exons 3–7 which are unique to the regional mutation data in AML patients. Further evaluation of identified variants by employing multiple bioinformatics techniques revealed likely hazardous impacts of majority of them due to their existence in the core DNA binding domain. Clinical features with the exception of platelet count did not differ significantly among the AML patients within TP53 wild type and TP53 mutant groups. Concurrently, no statistically considerable difference was observed in event free survival (EFS) (<i>p</i> = 0.67, HR = 1.222) or overall survival (OS) (<i>p</i> = 0.74, HR = 0.837) comparing two groups.</p>

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Clinical and genetic insights into novel TP53 mutations in De Novo AML patients

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月12日

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  • Afia Muhammad Akram,
  • Sikandar Hayat,
  • Hassan Yousaf,
  • Noreen Sarwar,
  • Asma Tahir,
  • Sakina Ali,
  • Fatima Yaqoob,
  • Amjad Zafar,
  • Hesham M. Hassan,
  • Mutwakel Dabiellil,
  • Malik Ihsan Ullah Khan

摘要

This study intended to uncover any potential variations in TP53 gene particularly the exons 3–7 as this region is reported to have abundant oncogenic variations with adverse impacts on its structural stability and functional activities. The selected region of TP53 was amplified in ninety de novo AML patients and amplicons were Sanger sequenced to analyze possible nucleotide variations. Ten (10) mutations were found in the coding region of the TP53 exons 3–7 which are unique to the regional mutation data in AML patients. Further evaluation of identified variants by employing multiple bioinformatics techniques revealed likely hazardous impacts of majority of them due to their existence in the core DNA binding domain. Clinical features with the exception of platelet count did not differ significantly among the AML patients within TP53 wild type and TP53 mutant groups. Concurrently, no statistically considerable difference was observed in event free survival (EFS) (p = 0.67, HR = 1.222) or overall survival (OS) (p = 0.74, HR = 0.837) comparing two groups.