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. 2021 Nov 11;13(22):5641.
doi: 10.3390/cancers13225641.

Molecular Profiling of Endometrial Cancer: An Exploratory Study in Aotearoa, New Zealand

Claire E Henry  1 , Khoi Phan  2 , Elena J Orsman  1 , Diane Kenwright  3 , Michelle C Thunders  3 , Sara K Filoche  1
Affiliations

Molecular Profiling of Endometrial Cancer: An Exploratory Study in Aotearoa, New Zealand

Claire E Henry et al. Cancers (Basel). .

Abstract

Background: Aotearoa, New Zealand, has one of the fastest-rising rates of endometrial cancer (EC) worldwide, increasing particularly in younger Māori and Pasifika women. There is a move towards using molecular profiling to direct treatment for each EC subtype.

Aim: This study aimed to explore the molecular profiling of primary EC tissue in Aotearoa.

Methods: We used the PORTEC guidelines for the molecular subtyping of 90 patients' samples into four categories: POLE-mutated, p53 abnormal, mismatch repair deficient (MMRd) and no specific molecular profile (NSMP). The CTNNB1 mutation and L1CAM expression were also included in the analysis. POLE and CTNNB1 mutations were analysed using targeted next-generation sequencing (NGS). Novel mutations were assessed using VarSome. MMRd, L1CAM and p53 abnormalities were analysed using immunohistochemistry.

Results: In total, 15 samples were MMRd, 9 were p53 abnormal, 8 were POLE-mutated and the rest (56) were NSMP. Eleven samples had exon 3 CTNNB1 mutations and eleven novel POLE mutations were described.

Conclusion: Surrogate markers for POLE mutations should be investigated. The validation of POLE variants and CTNNB1 mutations as part of an Aotearoa-based molecular panel is warranted.

Keywords: endometrial cancer; molecular; subtype.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Example of MMR stable staining patterns (strong positive).
Figure 2
Figure 2
Example of MMRd staining patterns; loss of expression of MLH1 and PMS2.
Figure 3
Figure 3
Example of p53 staining patterns; wild-type and abnormal overexpression.
Figure 4
Figure 4
Example of L1CAM staining patterns, scores 0–3.
Figure 5
Figure 5
TISIDB datamining in UCEC, POLE mutation vs. wild-type, immune gene expression. (A) LAG3. (B) TIGIT. (C) CXCL13. (D) CXCL9. (E) Activated CD4 T cells.
See this image and copyright information in PMC

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