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Updated: Dec 6, 2025
09:21
Tumorsphere Derivation and Treatment from Primary Tumor Cells Isolated from Mouse Rhabdomyosarcomas
Published on: September 13, 2019
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Distinct clonal evolution in a case with anaplastic embryonal rhabdomyosarcoma
Keisuke Kato1,2, Ai Yoshimi1,2, Asami Noda2
1Division of Pediatric Hematology and Oncology, Ibaraki Children's Hospital, Mito, Ibaraki, Japan.
Summary
This study reveals distinct clonal evolution in anaplastic embryonal rhabdomyosarcoma (ERMS), highlighting intratumoral heterogeneity and TP53 mutations. Further research is needed to understand ERMS anaplasia.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Clonal evolution and intratumoral heterogeneity are key in malignancy, including rhabdomyosarcoma.
- This study investigates a unique clonal feature in anaplastic embryonal type rhabdomyosarcoma (ERMS) via molecular analysis.
Observation:
- A pediatric case of metastatic pelvic ERMS with focal anaplasia was analyzed.
- A cell line (ICH-ERMS-1) was established from the biopsy.
- Multiple samples (biopsy, autopsy, cell line) underwent histopathological, cytogenetic, and molecular analysis.
Findings:
- The biopsy showed ERMS with focal anaplasia and a TP53 codon 245 mutation.
- Autopsy tissue and cell line exhibited a TP53 codon 248 mutation.
- Backtrack analysis confirmed the TP53 codon 248 mutation in the original biopsy, indicating clonal evolution. A PTPN11 codon 69 mutation was present in all samples.
Implications:
- The findings underscore intratumoral heterogeneity and clonal changes in anaplastic ERMS.
- Further studies are required to determine if alterations in the p14ARF-p53-MDM2 pathway drive anaplasia in ERMS.
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