Evidence map›Paper›PMID 41162745›Full record

ArticleBJC reports2025

Transcriptome profiling of uterine leiomyosarcomas identifies a leiomyoma-like expression pattern that indicates better survival.

Sara Khamaiseh, Riitta Koivisto-Korander, Nora Schreiber, Esa Pitkänen, Terhi Ahvenainen, Ralf Bützow, Miika Mehine, Pia Vahteristo

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Article in BJC reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

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5citing papers in PubMed
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3 · Its place in the literature

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5 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Sara KhamaisehApplied Tumor Genomics Research Program, University of Helsinki, Helsinki, Finland.
Riitta Koivisto-KoranderDepartment of Obstetrics and Gynecology, Helsinki University Hospital, Helsinki, Finland.
Nora SchreiberApplied Tumor Genomics Research Program, University of Helsinki, Helsinki, Finland.
Esa PitkänenApplied Tumor Genomics Research Program, University of Helsinki, Helsinki, Finland.
Terhi AhvenainenApplied Tumor Genomics Research Program, University of Helsinki, Helsinki, Finland.
Ralf BützowApplied Tumor Genomics Research Program, University of Helsinki, Helsinki, Finland.
Miika MehineApplied Tumor Genomics Research Program, University of Helsinki, Helsinki, Finland.
Pia VahteristoApplied Tumor Genomics Research Program, University of Helsinki, Helsinki, Finland. pia.vahteristo@helsinki.fi.ORCID http://orcid.org/0000-0002-4615-3825

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundUterine leiomyosarcomas are rare and aggressive cancers with poor survival. Their non-cancerous counterparts, uterine leiomyomas, are common tumors affecting many women during reproductive years. Distinguishing leiomyosarcomas from leiomyomas remains a diagnostic challenge. This study aimed to identify molecular biomarkers that differentiate leiomyosarcomas from leiomyomas and to assess their prognostic value.

methodsWe analyzed 3'RNA sequencing data from 51 leiomyosarcomas and 44 leiomyomas with differential gene expression analysis and machine learning to identify diagnostic biomarkers. We utilized immunohistochemistry to validate the findings. We used Kaplan-Meier and Cox regression models to assess disease-specific survival in leiomyosarcoma patients.

resultsLeiomyosarcomas exhibited significant dysregulation of the retinoblastoma and cell cycle pathways. Clustering based on retinoblastoma pathway genes identified a subset of leiomyosarcomas with a leiomyoma-like expression profile that associated with better survival. Machine learning-based classification identified genes with high predictive accuracy, including genes from the retinoblastoma pathway. Immunohistochemistry validated TOP2A and CDK1 as potential diagnostic biomarkers, and their higher expression was associated with worse survival. Leiomyoma driver alterations were found in 27% of leiomyosarcomas, but these showed no association with survival.

conclusionOur results reveal molecular heterogeneity in uterine leiomyosarcomas and provide potential diagnostic and prognostic biomarkers for improved patient management.

Identifiers

PMID41162745
PMCPMC12572308

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