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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

1
Department of Pediatric Hematology/Oncology and Cell and Gene Therapy, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
2
Histology-Core Facility, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
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Pathology Unit, Department of Laboratories, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
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Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy
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Genetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
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Institute of Pediatric Research Città Della Speranza and Laboratory of Solid Tumors, Clinic of Pediatric Hematology-Oncology, University of Padova, 35129 Padova, Italy
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Nico Innovagroup S.r.l., 25125 Brescia, Italy
*
Author to whom correspondence should be addressed.
equal contribution.
Academic Editor: Gasparini Patrizia
Int. J. Mol. Sci. 2021, 22(11), 5484; https://doi.org/10.3390/ijms22115484
Received: 16 March 2021 / Revised: 17 May 2021 / Accepted: 18 May 2021 / Published: 22 May 2021
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. View Full-Text
Keywords: spindle cell; rhabdomyosarcoma; SRF-NCOA2; cell line spindle cell; rhabdomyosarcoma; SRF-NCOA2; cell line
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MDPI and ACS Style

Colletti, M.; Galardi, A.; Miele, E.; Di Paolo, V.; Russo, I.; De Stefanis, C.; De Vito, R.; Rinelli, M.; Ciolfi, A.; De Angelis, B.; Zin, A.; Guffanti, A.; Digilio, M.C.; Novelli, A.; Alaggio, R.; Milano, G.M.; Di Giannatale, A. Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript. Int. J. Mol. Sci. 2021, 22, 5484. https://doi.org/10.3390/ijms22115484

AMA Style

Colletti M, Galardi A, Miele E, Di Paolo V, Russo I, De Stefanis C, De Vito R, Rinelli M, Ciolfi A, De Angelis B, Zin A, Guffanti A, Digilio MC, Novelli A, Alaggio R, Milano GM, Di Giannatale A. Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript. International Journal of Molecular Sciences. 2021; 22(11):5484. https://doi.org/10.3390/ijms22115484

Chicago/Turabian Style

Colletti, Marta, Angela Galardi, Evelina Miele, Virginia Di Paolo, Ida Russo, Cristiano De Stefanis, Rita De Vito, Martina Rinelli, Andrea Ciolfi, Biagio De Angelis, Angelica Zin, Alessandro Guffanti, Maria C. Digilio, Antonio Novelli, Rita Alaggio, Giuseppe M. Milano, and Angela Di Giannatale. 2021. "Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript" International Journal of Molecular Sciences 22, no. 11: 5484. https://doi.org/10.3390/ijms22115484

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