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Genomic determinants in advanced endometrial cancer patients with sustained response to hormonal therapy- case series and review of literature

The incidence of endometrial cancer is increasing, however treatment options for advanced disease are limited. Hormonal therapy has demonstrated positive outcomes for Stage IV EC. Next generation sequencing (NGS) has increased our understanding of molecular mechanisms driving EC. In this case series...

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Autores principales: Chukkalore, Divya, Rajavel, Anisha, Asti, Divya, Dhar, Meekoo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10351014/
https://www.ncbi.nlm.nih.gov/pubmed/37465112
http://dx.doi.org/10.3389/fonc.2023.1188028
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author Chukkalore, Divya
Rajavel, Anisha
Asti, Divya
Dhar, Meekoo
author_facet Chukkalore, Divya
Rajavel, Anisha
Asti, Divya
Dhar, Meekoo
author_sort Chukkalore, Divya
collection PubMed
description The incidence of endometrial cancer is increasing, however treatment options for advanced disease are limited. Hormonal therapy has demonstrated positive outcomes for Stage IV EC. Next generation sequencing (NGS) has increased our understanding of molecular mechanisms driving EC. In this case series, we selected six patients at our institution with Stage IV, hormone receptor positive, endometrial cancer currently being treated with hormonal therapy. All patients achieved SD for at least ≥ 1.5 years. We studied NGS data on all six patients to assess for any common genomic marker which could predict the SD of at least 1.5 years achieved in this group. Institutional Review Board (IRB) approval was obtained from Staten Island University Hospital and Northwell Health, New York. PTEN, PIK3CA, PIK3R1, and ARID1A mutations were found in 83%, 67% 50%, and 67% of patients respectively. TP53 and FGFR2 were both found in 50% of patients. All patients were positive for estrogen and/or progesterone receptor (ER+ and/or PR+). We did not find any one common mutation that could have predicted the observed response (or SD of ≥1.5 years) to hormone therapy. However, our data reflects the prevalence of various mutations reported in literature: (1) Hormone Receptor status is a positive prognostic indicator (2) PTEN/PIK3CA mutations can occur concurrently in EC (3) ARID1A coexists with PTEN (4) FGFR and PTEN pathways may be interlinked. We suggest NGS be employed frequently in patients with endometrial cancer to identify targetable mutations. Additional larger studies are needed to characterize the interplay between mutations.
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spelling pubmed-103510142023-07-18 Genomic determinants in advanced endometrial cancer patients with sustained response to hormonal therapy- case series and review of literature Chukkalore, Divya Rajavel, Anisha Asti, Divya Dhar, Meekoo Front Oncol Oncology The incidence of endometrial cancer is increasing, however treatment options for advanced disease are limited. Hormonal therapy has demonstrated positive outcomes for Stage IV EC. Next generation sequencing (NGS) has increased our understanding of molecular mechanisms driving EC. In this case series, we selected six patients at our institution with Stage IV, hormone receptor positive, endometrial cancer currently being treated with hormonal therapy. All patients achieved SD for at least ≥ 1.5 years. We studied NGS data on all six patients to assess for any common genomic marker which could predict the SD of at least 1.5 years achieved in this group. Institutional Review Board (IRB) approval was obtained from Staten Island University Hospital and Northwell Health, New York. PTEN, PIK3CA, PIK3R1, and ARID1A mutations were found in 83%, 67% 50%, and 67% of patients respectively. TP53 and FGFR2 were both found in 50% of patients. All patients were positive for estrogen and/or progesterone receptor (ER+ and/or PR+). We did not find any one common mutation that could have predicted the observed response (or SD of ≥1.5 years) to hormone therapy. However, our data reflects the prevalence of various mutations reported in literature: (1) Hormone Receptor status is a positive prognostic indicator (2) PTEN/PIK3CA mutations can occur concurrently in EC (3) ARID1A coexists with PTEN (4) FGFR and PTEN pathways may be interlinked. We suggest NGS be employed frequently in patients with endometrial cancer to identify targetable mutations. Additional larger studies are needed to characterize the interplay between mutations. Frontiers Media S.A. 2023-07-03 /pmc/articles/PMC10351014/ /pubmed/37465112 http://dx.doi.org/10.3389/fonc.2023.1188028 Text en Copyright © 2023 Chukkalore, Rajavel, Asti and Dhar https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Chukkalore, Divya
Rajavel, Anisha
Asti, Divya
Dhar, Meekoo
Genomic determinants in advanced endometrial cancer patients with sustained response to hormonal therapy- case series and review of literature
title Genomic determinants in advanced endometrial cancer patients with sustained response to hormonal therapy- case series and review of literature
title_full Genomic determinants in advanced endometrial cancer patients with sustained response to hormonal therapy- case series and review of literature
title_fullStr Genomic determinants in advanced endometrial cancer patients with sustained response to hormonal therapy- case series and review of literature
title_full_unstemmed Genomic determinants in advanced endometrial cancer patients with sustained response to hormonal therapy- case series and review of literature
title_short Genomic determinants in advanced endometrial cancer patients with sustained response to hormonal therapy- case series and review of literature
title_sort genomic determinants in advanced endometrial cancer patients with sustained response to hormonal therapy- case series and review of literature
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10351014/
https://www.ncbi.nlm.nih.gov/pubmed/37465112
http://dx.doi.org/10.3389/fonc.2023.1188028
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