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1310 Clinical and survival associations of arid1a mutations in endometrioid uterine cancer: a TCGA analysis
  1. Ashaar Al-Akhras1 and
  2. Sara Zytoon2
  1. 1Jordan University of Science and Technology, Irbid, Jordan
  2. 2Yarmouk University, Irbid, Jordan


Introduction/Background The most common gynecological malignancy worldwide is endometrial carcinoma (EC), with endometrioid uterine carcinoma (EUC), a cancer with relatively favorable prognosis, constituting the majority of its histopathological subtypes (85%). ARID1A is a gene involved in chromatin remodeling and has a mutational role in multiple different cancers. In this paper, we sought to study ARID1A mutation’s associations and outcomes in EUC.

Methodology We extracted profiles of EUC cases from the Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) database at cBioPortal. ARID1A-mutated tumors were studied for clinical and genomic associations. Survival outcomes were compared for overall survival (OS) and progression-free survival (PFS).

Results Our analysis included 388 EUC patients, with a mean age at diagnosis of 62 ± 11 years. About 54% of patients had a mutation in ARID1A. Patients with an ARID1A mutation were younger (mean age 60 vs. 64, p = 0.022), had a lower fraction genome altered (0.03 vs. 0.10, p<0.001), and a significantly higher median mutation count (436 vs. 63, p<0.001). ARID1A mutations were not associated with any race or tumor grade. Co-occurrence was demonstrated with common mutations such as with PTEN, CTCF, and ZFHX3 (p<0.001) as well as with PIK3CA (p = 0.005) and KRAS (p = 0.002). Patients who did not harbor a mutation in ARID1A had less favorable OS ([hazard ratio] HR 2.17, 95% CI 1.18–3.99, p = 0.012) and PFS (HR 2.11, 95% CI 1.31–3.42, p = 0.002), and lower long-term survival rates at 48 months (74% vs. 90% and 68% vs. 89% for OS and PFS, respectively).

Conclusion Our research showed the favorable prognostic effect of ARID1A mutation, leading to more positive survival outcomes compared to wild-type cases. Due to its high prevalence in endometrial tumors, especially EUC, comprehending its intricate impact on EUC is essential for a clear understanding of the disease.

Disclosures None.

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