Transcriptome Concordance Between Borderline Tumors and Endometrioid Carcinoma: An Integrative Genomic Analysis

ABSTRACT Background Borderline ovarian tumors (BOTs) differ from ovarian carcinomas in their clinical presentation and behavior, yet their molecular characteristics remain poorly understood. This study aims to address this gap by integrating whole‐exome sequencing (WES) and RNA sequencing (RNA‐seq)...

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Main Authors: Mio Takahashi, Kohei Nakamura, Tatsuyuki Chiyoda, Chihiro Okada, Sachio Nohara, Reika Takamatsu, Shintaro Yanazume, Hiroaki Kobayashi, Hiroshi Nishihara, Wataru Yamagami
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:Cancer Medicine
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Online Access:https://doi.org/10.1002/cam4.70601
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author Mio Takahashi
Kohei Nakamura
Tatsuyuki Chiyoda
Chihiro Okada
Sachio Nohara
Reika Takamatsu
Shintaro Yanazume
Hiroaki Kobayashi
Hiroshi Nishihara
Wataru Yamagami
author_facet Mio Takahashi
Kohei Nakamura
Tatsuyuki Chiyoda
Chihiro Okada
Sachio Nohara
Reika Takamatsu
Shintaro Yanazume
Hiroaki Kobayashi
Hiroshi Nishihara
Wataru Yamagami
author_sort Mio Takahashi
collection DOAJ
description ABSTRACT Background Borderline ovarian tumors (BOTs) differ from ovarian carcinomas in their clinical presentation and behavior, yet their molecular characteristics remain poorly understood. This study aims to address this gap by integrating whole‐exome sequencing (WES) and RNA sequencing (RNA‐seq) to compare BOTs with high‐grade serous carcinoma (HGSC), endometrioid carcinoma (EC), and clear‐cell carcinoma (CCC). Objective To elucidate the molecular features of BOTs and evaluate their similarities and differences in comparison to HGSC, EC, and CCC. Methods The study analyzed 44 ovarian tumor samples, employing WES to identify genomic alterations and RNA‐seq to examine transcriptomic profiles. Comparative analyses were conducted to investigate the molecular relationships among the tumor types. Results The genomic analysis revealed that BOTs share significant similarities with EC. Furthermore, the transcriptomic data highlighted a novel and substantial similarity between BOTs and EC, suggesting deeper biological linkages, including potentially shared oncogenic pathways or tumor microenvironmental factors. These findings challenge traditional classifications and suggest a closer molecular alignment of BOTs with EC than previously understood. Conclusions This study provides new insights into the molecular characteristics of BOTs, demonstrating their significant resemblance to EC at both the genomic and transcriptomic levels. These results underscore the potential need to reconsider the molecular classification of ovarian tumors and open new avenues for research into the pathogenesis and treatment strategies for BOTs.
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spelling doaj-art-1a8b3dfb81694dec878caded2bd7e31b2025-01-24T08:46:07ZengWileyCancer Medicine2045-76342025-01-01142n/an/a10.1002/cam4.70601Transcriptome Concordance Between Borderline Tumors and Endometrioid Carcinoma: An Integrative Genomic AnalysisMio Takahashi0Kohei Nakamura1Tatsuyuki Chiyoda2Chihiro Okada3Sachio Nohara4Reika Takamatsu5Shintaro Yanazume6Hiroaki Kobayashi7Hiroshi Nishihara8Wataru Yamagami9Department of Obstetrics and Gynecology Keio University School of Medicine Tokyo JapanCenter for Cancer Genomics Keio University School of Medicine Tokyo JapanDepartment of Obstetrics and Gynecology Keio University School of Medicine Tokyo JapanDepartment of Biomedical Informatics, Communication Engineering Center, Electronic Systems Business Group Mitsubishi Electric Software co. Ltd Amagasaki Hyogo JapanDepartment of Biomedical Informatics, Communication Engineering Center, Electronic Systems Business Group Mitsubishi Electric Software co. Ltd Amagasaki Hyogo JapanCenter for Cancer Genomics Keio University School of Medicine Tokyo JapanDepartment of Obstetrics and Gynecology, Faculty of Medicine Kagoshima University, Kagoshima Kagoshima JapanDepartment of Obstetrics and Gynecology, Faculty of Medicine Kagoshima University, Kagoshima Kagoshima JapanCenter for Cancer Genomics Keio University School of Medicine Tokyo JapanDepartment of Obstetrics and Gynecology Keio University School of Medicine Tokyo JapanABSTRACT Background Borderline ovarian tumors (BOTs) differ from ovarian carcinomas in their clinical presentation and behavior, yet their molecular characteristics remain poorly understood. This study aims to address this gap by integrating whole‐exome sequencing (WES) and RNA sequencing (RNA‐seq) to compare BOTs with high‐grade serous carcinoma (HGSC), endometrioid carcinoma (EC), and clear‐cell carcinoma (CCC). Objective To elucidate the molecular features of BOTs and evaluate their similarities and differences in comparison to HGSC, EC, and CCC. Methods The study analyzed 44 ovarian tumor samples, employing WES to identify genomic alterations and RNA‐seq to examine transcriptomic profiles. Comparative analyses were conducted to investigate the molecular relationships among the tumor types. Results The genomic analysis revealed that BOTs share significant similarities with EC. Furthermore, the transcriptomic data highlighted a novel and substantial similarity between BOTs and EC, suggesting deeper biological linkages, including potentially shared oncogenic pathways or tumor microenvironmental factors. These findings challenge traditional classifications and suggest a closer molecular alignment of BOTs with EC than previously understood. Conclusions This study provides new insights into the molecular characteristics of BOTs, demonstrating their significant resemblance to EC at both the genomic and transcriptomic levels. These results underscore the potential need to reconsider the molecular classification of ovarian tumors and open new avenues for research into the pathogenesis and treatment strategies for BOTs.https://doi.org/10.1002/cam4.70601borderline ovarian tumorgenomic analysisovarian cancerRNA sequencingtranscriptome
spellingShingle Mio Takahashi
Kohei Nakamura
Tatsuyuki Chiyoda
Chihiro Okada
Sachio Nohara
Reika Takamatsu
Shintaro Yanazume
Hiroaki Kobayashi
Hiroshi Nishihara
Wataru Yamagami
Transcriptome Concordance Between Borderline Tumors and Endometrioid Carcinoma: An Integrative Genomic Analysis
Cancer Medicine
borderline ovarian tumor
genomic analysis
ovarian cancer
RNA sequencing
transcriptome
title Transcriptome Concordance Between Borderline Tumors and Endometrioid Carcinoma: An Integrative Genomic Analysis
title_full Transcriptome Concordance Between Borderline Tumors and Endometrioid Carcinoma: An Integrative Genomic Analysis
title_fullStr Transcriptome Concordance Between Borderline Tumors and Endometrioid Carcinoma: An Integrative Genomic Analysis
title_full_unstemmed Transcriptome Concordance Between Borderline Tumors and Endometrioid Carcinoma: An Integrative Genomic Analysis
title_short Transcriptome Concordance Between Borderline Tumors and Endometrioid Carcinoma: An Integrative Genomic Analysis
title_sort transcriptome concordance between borderline tumors and endometrioid carcinoma an integrative genomic analysis
topic borderline ovarian tumor
genomic analysis
ovarian cancer
RNA sequencing
transcriptome
url https://doi.org/10.1002/cam4.70601
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