Genomic, epigenomic, and transcriptomic profiling towards identifying omics features and specific biomarkers that distinguish uterine leiomyosarcoma and leiomyoma at molecular levels

Tomoko Miyata, Kenzo Sonoda, Junko Tomikawa, Chiharu Tayama, Kohji Okamura, Kayoko Maehara, Hiroaki Kobayashi, Norio Wake, Kiyoko Kato, Kenichiro Hata, Kazuhiko Nakabayashi

Research output: Contribution to journalArticle

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Abstract

Uterine leiomyosarcoma (LMS) is the worst malignancy among the gynecologic cancers. Uterine leiomyoma (LM), a benign tumor of myometrial origin, is the most common among women of childbearing age. Because of their similar symptoms, it is difficult to preoperatively distinguish the two conditions only by ultrasound and pelvic MRI. While histopathological diagnosis is currently the main approach used to distinguish them postoperatively, unusual histologic variants of LM tend to be misdiagnosed as LMS. Therefore, development of molecular diagnosis as an alternative or confirmatory means will help to diagnose LMS more accurately. We adopted omics-based technologies to identify genome-wide features to distinguish LMS from LM and revealed that copy number, gene expression, and DNA methylation profiles successfully distinguished these tumors. LMS was found to possess features typically observed in malignant solid tumors, such as extensive chromosomal abnormalities, overexpression of cell cycle-related genes, hypomethylation spreading through large genomic regions, and frequent hypermethylation at the polycomb group target genes and protocadherin genes. We also identified candidate expression and DNA methylation markers, which will facilitate establishing postoperative molecular diagnostic tests based on conventional quantitative assays. Our results demonstrate the feasibility of establishing such tests and the possibility of developing preoperative and noninvasive methods.

Original languageEnglish
Article number412068
JournalSarcoma
Volume2015
DOIs
Publication statusPublished - Jan 1 2015

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Leiomyosarcoma
Leiomyoma
Epigenomics
Biomarkers
DNA Methylation
Neoplasms
cdc Genes
Molecular Pathology
Diagnostic Errors
Genetic Markers
Routine Diagnostic Tests
Chromosome Aberrations
Genes
Genome
Technology
Gene Expression

All Science Journal Classification (ASJC) codes

  • Oncology
  • Radiology Nuclear Medicine and imaging

Cite this

Genomic, epigenomic, and transcriptomic profiling towards identifying omics features and specific biomarkers that distinguish uterine leiomyosarcoma and leiomyoma at molecular levels. / Miyata, Tomoko; Sonoda, Kenzo; Tomikawa, Junko; Tayama, Chiharu; Okamura, Kohji; Maehara, Kayoko; Kobayashi, Hiroaki; Wake, Norio; Kato, Kiyoko; Hata, Kenichiro; Nakabayashi, Kazuhiko.

In: Sarcoma, Vol. 2015, 412068, 01.01.2015.

Research output: Contribution to journalArticle

Miyata, Tomoko ; Sonoda, Kenzo ; Tomikawa, Junko ; Tayama, Chiharu ; Okamura, Kohji ; Maehara, Kayoko ; Kobayashi, Hiroaki ; Wake, Norio ; Kato, Kiyoko ; Hata, Kenichiro ; Nakabayashi, Kazuhiko. / Genomic, epigenomic, and transcriptomic profiling towards identifying omics features and specific biomarkers that distinguish uterine leiomyosarcoma and leiomyoma at molecular levels. In: Sarcoma. 2015 ; Vol. 2015.
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