Molecular Profiling Reveals Limited Targetable Biomarkers in Neuroendocrine Carcinoma of the Cervix

<p>Neuroendocrine carcinoma of the cervix (NEC) is a rare and highly aggressive cervical malignancy. Given that no targeted therapy has been approved specifically to NEC, we investigated the presence of novel, potentially targetable biomarkers in a large cohort of NEC. Sixty-two NEC were molec...

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Main Author: Adela Cimic (14908512) (author)
Other Authors: Semir Vranic (3353012) (author), David Arguello (3353000) (author), Elma Contreras (16561296) (author), Zoran Gatalica (3353003) (author), Jeffrey Swensen (4760673) (author)
Published: 2021
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_version_ 1864513560224202752
author Adela Cimic (14908512)
author2 Semir Vranic (3353012)
David Arguello (3353000)
Elma Contreras (16561296)
Zoran Gatalica (3353003)
Jeffrey Swensen (4760673)
author2_role author
author
author
author
author
author_facet Adela Cimic (14908512)
Semir Vranic (3353012)
David Arguello (3353000)
Elma Contreras (16561296)
Zoran Gatalica (3353003)
Jeffrey Swensen (4760673)
author_role author
dc.creator.none.fl_str_mv Adela Cimic (14908512)
Semir Vranic (3353012)
David Arguello (3353000)
Elma Contreras (16561296)
Zoran Gatalica (3353003)
Jeffrey Swensen (4760673)
dc.date.none.fl_str_mv 2021-04-01T00:00:00Z
dc.identifier.none.fl_str_mv 10.1097/pai.0000000000000884
dc.relation.none.fl_str_mv https://figshare.com/articles/journal_contribution/Molecular_Profiling_Reveals_Limited_Targetable_Biomarkers_in_Neuroendocrine_Carcinoma_of_the_Cervix/23701659
dc.rights.none.fl_str_mv CC BY 4.0
info:eu-repo/semantics/openAccess
dc.subject.none.fl_str_mv Biomedical and clinical sciences
Oncology and carcinogenesis
cervix
neuroendocrine carcinoma
molecular profiling
sequencing
targeted therapy
dc.title.none.fl_str_mv Molecular Profiling Reveals Limited Targetable Biomarkers in Neuroendocrine Carcinoma of the Cervix
dc.type.none.fl_str_mv Text
Journal contribution
info:eu-repo/semantics/publishedVersion
text
contribution to journal
description <p>Neuroendocrine carcinoma of the cervix (NEC) is a rare and highly aggressive cervical malignancy. Given that no targeted therapy has been approved specifically to NEC, we investigated the presence of novel, potentially targetable biomarkers in a large cohort of NEC. Sixty-two NEC were molecularly profiled for biomarkers of targeted therapies including antibody-drug conjugates [delta-like canonical notch ligand 3 (DLL3), a trophoblast cell surface antigen 2 (TROP-2), and folate receptor 1 (FOLR1)], <em>NTRK1-3</em> gene fusions, and immune checkpoint inhibitors [programmed death-ligand 1 (PD-L1), tumor mutational burden, and microsatellite instability] using immunohistochemistry and DNA/RNA next-generation sequencing assays. A cohort of squamous cell carcinomas of the cervix (n=599) was used for comparison for immune-oncology biomarkers. DLL3 expression was observed in 81% of the cases. DLL3 expression was inversely correlated with commonly observed pathogenic mutations in <em>PIK3CA</em> (17%) (<em>P</em>=0.018) and <em>PTEN</em> (10%) (<em>P</em>=0.006). Other more frequently seen pathogenic mutations (<em>TP53</em> 17%, <em>KRAS</em> 11%, and <em>CTNNB1</em> 5%) were not associated with DLL3 expression. TROP-2 expression was detected in only 1 case and no case expressed FOLR1. Although NTRK protein expression was observed in 21% of the cases, none of these had <em>an NTRK</em> gene fusion. PD-L1 expression (10%) and high tumor mutational burden (3%) were significantly less frequent in NEC compared with the squamous cell carcinoma cohort (79% and 11%, respectively). None of the NEC exhibited high microsatellite instability status. Despite frequent DLL3 expression in NEC, a potential therapeutic benefit of DLL3-targeted drugs remains uncertain given the recent failure of the Rova-T therapeutic trial in small cell lung carcinomas. Small cohorts of NEC enriched in PIK3CA/PTEN/AKT and programmed cell death protein 1/PD-L1 alterations indicate therapeutic roles for their respective inhibitors.</p> <h2>Other Information</h2> <p>Published in: Applied Immunohistochemistry & Molecular Morphology<br> License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by-nc-nd/4.0/</a><br> See article on publisher's website: <a href="http://dx.doi.org/10.1097/pai.0000000000000884" target="_blank">http://dx.doi.org/10.1097/pai.0000000000000884</a></p>
eu_rights_str_mv openAccess
id Manara2_2697301ea3e761685b1b911a60fd4377
identifier_str_mv 10.1097/pai.0000000000000884
network_acronym_str Manara2
network_name_str Manara2
oai_identifier_str oai:figshare.com:article/23701659
publishDate 2021
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rights_invalid_str_mv CC BY 4.0
spelling Molecular Profiling Reveals Limited Targetable Biomarkers in Neuroendocrine Carcinoma of the CervixAdela Cimic (14908512)Semir Vranic (3353012)David Arguello (3353000)Elma Contreras (16561296)Zoran Gatalica (3353003)Jeffrey Swensen (4760673)Biomedical and clinical sciencesOncology and carcinogenesiscervixneuroendocrine carcinomamolecular profilingsequencingtargeted therapy<p>Neuroendocrine carcinoma of the cervix (NEC) is a rare and highly aggressive cervical malignancy. Given that no targeted therapy has been approved specifically to NEC, we investigated the presence of novel, potentially targetable biomarkers in a large cohort of NEC. Sixty-two NEC were molecularly profiled for biomarkers of targeted therapies including antibody-drug conjugates [delta-like canonical notch ligand 3 (DLL3), a trophoblast cell surface antigen 2 (TROP-2), and folate receptor 1 (FOLR1)], <em>NTRK1-3</em> gene fusions, and immune checkpoint inhibitors [programmed death-ligand 1 (PD-L1), tumor mutational burden, and microsatellite instability] using immunohistochemistry and DNA/RNA next-generation sequencing assays. A cohort of squamous cell carcinomas of the cervix (n=599) was used for comparison for immune-oncology biomarkers. DLL3 expression was observed in 81% of the cases. DLL3 expression was inversely correlated with commonly observed pathogenic mutations in <em>PIK3CA</em> (17%) (<em>P</em>=0.018) and <em>PTEN</em> (10%) (<em>P</em>=0.006). Other more frequently seen pathogenic mutations (<em>TP53</em> 17%, <em>KRAS</em> 11%, and <em>CTNNB1</em> 5%) were not associated with DLL3 expression. TROP-2 expression was detected in only 1 case and no case expressed FOLR1. Although NTRK protein expression was observed in 21% of the cases, none of these had <em>an NTRK</em> gene fusion. PD-L1 expression (10%) and high tumor mutational burden (3%) were significantly less frequent in NEC compared with the squamous cell carcinoma cohort (79% and 11%, respectively). None of the NEC exhibited high microsatellite instability status. Despite frequent DLL3 expression in NEC, a potential therapeutic benefit of DLL3-targeted drugs remains uncertain given the recent failure of the Rova-T therapeutic trial in small cell lung carcinomas. Small cohorts of NEC enriched in PIK3CA/PTEN/AKT and programmed cell death protein 1/PD-L1 alterations indicate therapeutic roles for their respective inhibitors.</p> <h2>Other Information</h2> <p>Published in: Applied Immunohistochemistry & Molecular Morphology<br> License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by-nc-nd/4.0/</a><br> See article on publisher's website: <a href="http://dx.doi.org/10.1097/pai.0000000000000884" target="_blank">http://dx.doi.org/10.1097/pai.0000000000000884</a></p>2021-04-01T00:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1097/pai.0000000000000884https://figshare.com/articles/journal_contribution/Molecular_Profiling_Reveals_Limited_Targetable_Biomarkers_in_Neuroendocrine_Carcinoma_of_the_Cervix/23701659CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/237016592021-04-01T00:00:00Z
spellingShingle Molecular Profiling Reveals Limited Targetable Biomarkers in Neuroendocrine Carcinoma of the Cervix
Adela Cimic (14908512)
Biomedical and clinical sciences
Oncology and carcinogenesis
cervix
neuroendocrine carcinoma
molecular profiling
sequencing
targeted therapy
status_str publishedVersion
title Molecular Profiling Reveals Limited Targetable Biomarkers in Neuroendocrine Carcinoma of the Cervix
title_full Molecular Profiling Reveals Limited Targetable Biomarkers in Neuroendocrine Carcinoma of the Cervix
title_fullStr Molecular Profiling Reveals Limited Targetable Biomarkers in Neuroendocrine Carcinoma of the Cervix
title_full_unstemmed Molecular Profiling Reveals Limited Targetable Biomarkers in Neuroendocrine Carcinoma of the Cervix
title_short Molecular Profiling Reveals Limited Targetable Biomarkers in Neuroendocrine Carcinoma of the Cervix
title_sort Molecular Profiling Reveals Limited Targetable Biomarkers in Neuroendocrine Carcinoma of the Cervix
topic Biomedical and clinical sciences
Oncology and carcinogenesis
cervix
neuroendocrine carcinoma
molecular profiling
sequencing
targeted therapy