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.
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| http://dx.doi.org/10.3390/cancers13225641 | DOI Listing |
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