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Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript
- Source :
- International Journal of Molecular Sciences, Volume 22, Issue 11, International Journal of Molecular Sciences, Vol 22, Iss 5484, p 5484 (2021)
- Publication Year :
- 2021
- Publisher :
- MDPI, 2021.
-
Abstract
- Background: Spindle cell rhabdomyosarcoma (S-RMS) is a rare tumor that was previously considered as an uncommon variant of embryonal RMS (ERMS) and recently reclassified as a distinct RMS subtype with NCOA2, NCOA1, and VGLL2 fusion genes. In this study, we established a cell line (S-RMS1) derived from a four-month-old boy with infantile spindle cell RMS harboring SRF-NCOA2 gene fusion. Methods: Morphological and molecular characteristics of S-RMS1 were analyzed and compared with two RMS cell lines, RH30 and RD18. Whole genome sequencing of S-RMS1 and clinical exome sequencing of genomic DNA were performed. Results: S-RMS1 showed cells small in size, with a fibroblast-like morphology and positivity for MyoD-1, myogenin, desmin, and smooth muscle actin. The population doubling time was 3.7 days. Whole genome sequencing demonstrated that S-RMS1 retained the same genetic profile of the tumor at diagnosis. A Western blot analysis showed downregulation of AKT-p and YAP-p while RT-qPCR showed upregulation of endoglin and GATA6 as well as downregulation of TGFßR1 and Mef2C transcripts. Conclusion: This is the first report of the establishment of a cell line from an infantile spindle cell RMS with SRF-NCOA2 gene fusion. S-RMS1 should represent a useful tool for the molecular characterization of this rare and almost unknown tumor.
- Subjects :
- Adult
Male
Serum Response Factor
genetic structures
QH301-705.5
Recombinant Fusion Proteins
Cell
spindle cell
Down-Regulation
Biology
SRF-NCOA2
Catalysis
Article
Inorganic Chemistry
Fusion gene
Nuclear Receptor Coactivator 2
Young Adult
Nuclear Receptor Coactivator 1
Downregulation and upregulation
Rhabdomyosarcoma
medicine
Humans
Exome
Biology (General)
Physical and Theoretical Chemistry
Spindle cell rhabdomyosarcoma
Child
QD1-999
Molecular Biology
Spectroscopy
Exome sequencing
Whole genome sequencing
Organic Chemistry
Infant
General Medicine
cell line
medicine.disease
musculoskeletal system
Molecular biology
Computer Science Applications
Chemistry
medicine.anatomical_structure
Fusion transcript
Child, Preschool
Female
Myogenin
Gene Fusion
Subjects
Details
- Language :
- English
- ISSN :
- 14220067
- Volume :
- 22
- Issue :
- 11
- Database :
- OpenAIRE
- Journal :
- International Journal of Molecular Sciences
- Accession number :
- edsair.doi.dedup.....9ef96708a2c2d01a397e7c38faf3ce36