Introduction/Background*The molecular characterisation of endometrial cancer (EC) represents a step towards personalised management. The current ESGO-ESTRO-ESP guidelines classify EC into four groups: POLE mutated (POLEmut), p53 abnormal (p53abn), mismatch repair deficient (MMRd) and the largest group of no specific mutational profile (NSMP). Women with NSMP tumours generally have a good prognosis, but if disease recurs, the prognosis tends to be poor. A proposed additional molecular classifier to improve the risk assessment are mutations of catenin beta 1 (CTNNB1). The aim of this study was to assess the clinicopathological characteristics of women with CTNNB1-mutated tumours for further risk assessment.
Methodology This prospective observational study included women diagnosed with endometrial cancer between January 2020 – March 2021 at the University Medical Centre Maribor, Slovenia. Immunohistochemical (IHC) staining was used to evaluate the expression of p53 and mismatch repair proteins MLH, MSH2, MSH6 and PMS2. Sanger sequencing of exons 9, 13 and 14 was used to determine the POLE status and of exon 3 for CTTNB1 status. Statistical analysis was performed using IBM SPPS version 23. Descriptive statistics were calculated for numerical variables. Chi-Square (χ2) test was used to evaluate the relationship between CTNNB1 status and the tumour stage, depth of tumour invasion and lymph node involvement.
Result(s)*Out of 45 women included in the study, 5 (11.1%) were found to have a mutation in the exon 3 of CTNNB1; 2 women in D32V (40%), 2 women in S32C (40%) and 1 woman in S37P (20%). Among them, 4 women (80%) were classified as NSMP and 1 (20%) as p53abn. Moreover, 2 women (40%) were diagnosed with early stage (FIGO I-II) and 3 (60%) with advanced stage (FIGO IIIa or more) EC. CTNNB1 status was not correlated with lymph-node involvement (p>.418) and myometrial (p>.802) or lympho-vascular space invasion (p>.855).
Conclusion* CTNNB1 testing could be used for further classification of molecularly undefined EC. Especially in the NSMP group, this could provide more information about the disease biology and lead to better management of women. Further evaluation of the long-term impact of CTNNB1 mutations on recurrence-free survival and overall survival is needed.
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