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 mo...
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| Autores principales: | , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
MDPI AG
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/17e4fdb5edfd42f790eaee17991ab178 |
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| Sumario: | 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: <i>POLE</i>-mutated, p53 abnormal, mismatch repair deficient (MMRd) and no specific molecular profile (NSMP). The <i>CTNNB1</i> mutation and L1CAM expression were also included in the analysis. <i>POLE</i> and <i>CTNNB1</i> 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 <i>POLE-</i>mutated and the rest (56) were NSMP. Eleven samples had exon 3 <i>CTNNB1</i> mutations and eleven novel <i>POLE</i> mutations were described. Conclusion: Surrogate markers for <i>POLE</i> mutations should be investigated. The validation of <i>POLE</i> variants and CTNNB1 mutations as part of an Aotearoa-based molecular panel is warranted. |
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