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Molecular evolution of driver mutations in cancer with microsatellite instability and their impact on tumor

Kalpana Sriramadasu1, Senthilkumar Ravichandran2, Yau-Hong Li3

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Cancer driver mutations (CDMs) impact tumor evolution differently than high mutation loads from microsatellite instability (MSI) or mismatch repair deficiency (MMRd). Tumor mutation burden (TMB) can help classify uterine cancer patients for targeted therapies.

Keywords:
Cancer driver mutation (CDM)Genetic evolutionImmune interventionPrecision medicineTumor mutation burden (TMB)UCEC (uterine corpus endometrial carcinoma)

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Area of Science:

  • Oncology
  • Genetics
  • Immunology

Background:

  • Cancer development is influenced by genetic alterations, including cancer driver mutations (CDMs) and high mutation loads from microsatellite instability (MSI) or mismatch repair deficiency (MMRd).
  • CDMs are often linked to aggressive cancer phenotypes and poorer survival, whereas MSI/MMRd can promote anti-cancer immunity and improve responses to immune checkpoint inhibitor (ICI) therapies.
  • The interplay between CDMs and MSI/MMRd in cancer evolution is not fully understood.

Purpose of the Study:

  • To investigate the distinct roles of CDMs and MSI/MMRd in the evolution of uterine corpus endometrial carcinoma (UCEC).
  • To identify key genetic drivers and immune modulators in UCEC.
  • To explore potential therapeutic strategies based on molecular profiles and tumor mutation burden (TMB).

Main Methods:

  • Somatic mutation screening in UCEC, comparing it with ovarian cancer (OVCA) and cervical squamous cell carcinoma (CSCC).
  • Classification of UCEC patients into groups based on a tumor mutation burden (TMB) cutoff of 7.0 mutations/Mb.
  • Analysis of cancer driver genes (CDMs), including TP53, CTNNB1, PTEN, and ARID1A.
  • In silico drug screening using GDSC and CTRPv2 databases.

Main Results:

  • UCEC exhibits a higher mutation rate in cancer driver genes compared to OVCA and CSCC.
  • TP53 mutations and their networks were identified as key drivers of UCEC progression.
  • Mutations in CTNNB1, PTEN, and ARID1A were associated with enhanced anti-tumor immunity and longer survival.
  • GSK-3 inhibitor IX and curcumin were identified as potential therapeutic agents for specific UCEC patient subgroups.

Conclusions:

  • Immune regulation and tolerance play a more significant role than CDMs in cancer development, especially in MSI-high/MMRd UCEC.
  • TMB can serve as a valuable screening tool for classifying UCEC patients alongside molecular and histopathological data.
  • Personalized treatment strategies can be guided by TMB, molecular profiles, and MSI status for improved patient outcomes.