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

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: -mutated, p53 abnormal, mismatch repair deficient (MMRd) and no specific molecular profile (NSMP). The mutation and L1CAM expression were also included in the analysis. and 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 mutated and the rest (56) were NSMP. Eleven samples had exon 3 mutations and eleven novel mutations were described.

CONCLUSION

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