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:	Claire E. Henry, Khoi Phan, Elena J. Orsman, Diane Kenwright, Michelle C. Thunders, Sara K. Filoche
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	endometrial cancer molecular subtype Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/17e4fdb5edfd42f790eaee17991ab178
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spelling	oai:doaj.org-article:17e4fdb5edfd42f790eaee17991ab1782021-11-25T17:01:58ZMolecular Profiling of Endometrial Cancer: An Exploratory Study in Aotearoa, New Zealand10.3390/cancers132256412072-6694https://doaj.org/article/17e4fdb5edfd42f790eaee17991ab1782021-11-01T00:00:00Zhttps://www.mdpi.com/2072-6694/13/22/5641https://doaj.org/toc/2072-6694Background: 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.Claire E. HenryKhoi PhanElena J. OrsmanDiane KenwrightMichelle C. ThundersSara K. FilocheMDPI AGarticleendometrial cancermolecularsubtypeNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENCancers, Vol 13, Iss 5641, p 5641 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	endometrial cancer molecular subtype Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	endometrial cancer molecular subtype Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Claire E. Henry Khoi Phan Elena J. Orsman Diane Kenwright Michelle C. Thunders Sara K. Filoche Molecular Profiling of Endometrial Cancer: An Exploratory Study in Aotearoa, New Zealand
description	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.
format	article
author	Claire E. Henry Khoi Phan Elena J. Orsman Diane Kenwright Michelle C. Thunders Sara K. Filoche
author_facet	Claire E. Henry Khoi Phan Elena J. Orsman Diane Kenwright Michelle C. Thunders Sara K. Filoche
author_sort	Claire E. Henry
title	Molecular Profiling of Endometrial Cancer: An Exploratory Study in Aotearoa, New Zealand
title_short	Molecular Profiling of Endometrial Cancer: An Exploratory Study in Aotearoa, New Zealand
title_full	Molecular Profiling of Endometrial Cancer: An Exploratory Study in Aotearoa, New Zealand
title_fullStr	Molecular Profiling of Endometrial Cancer: An Exploratory Study in Aotearoa, New Zealand
title_full_unstemmed	Molecular Profiling of Endometrial Cancer: An Exploratory Study in Aotearoa, New Zealand
title_sort	molecular profiling of endometrial cancer: an exploratory study in aotearoa, new zealand
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/17e4fdb5edfd42f790eaee17991ab178
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Molecular Profiling of Endometrial Cancer: An Exploratory Study in Aotearoa, New Zealand

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