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MDM2 Amplification and PI3KCA Mutation in a Case of Sclerosing Rhabdomyosarcoma
Joint Authors
Hooper, Jody E.
Beadling, Carol
Hung, Arthur
Olson, Susan B.
Keller, Charles
Ryan, Christopher W.
Corless, Christopher L.
Wettach, George R.
Mansoor, Atiya
Warrick, Andrea
Kikuchi, Ken
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-05-20
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
A rare sclerosing variant of rhabdomyosarcoma characterized by prominent hyalinization and pseudovascular pattern has recently been described as a subtype biologically distinct from embryonal, alveolar, and pleomorphic forms.
We present cytogenetic and molecular findings as well as experimental studies of an unusual case of sclerosing rhabdomyosarcoma.
The primary lesion arose within the plantar subcutaneous tissue of the left foot of an otherwise healthy 23-year-old male who eventually developed pulmonary nodules despite systemic chemotherapy.
Two genetic abnormalities identified in surgical and/or autopsy samples of the tumor were introduced into 10T1/2 murine fibroblasts to determine whether these genetic changes cooperatively facilitated transformation and growth.
Cytogenetic analysis revealed a complex abnormal hyperdiploid clone, and MDM2 gene amplification was confirmed by fluorescence in situ hybridization.
Cancer gene mutation screening using a combination of multiplexed PCR and mass spectroscopy revealed a PIK3CA exon 20 H1047R mutation in the primary tumor, lung metastasis, and liver metastasis.
However, this mutation was not cooperative with MDM2 overexpression in experimental assays for transformation or growth.
Nevertheless, MDM2 and PIK3CA are genes worthy of further investigation in patients with sclerosing rhabdomyosarcoma and might be considered in the enrollment of these patients into clinical trials of targeted therapeutics.
American Psychological Association (APA)
Kikuchi, Ken& Wettach, George R.& Ryan, Christopher W.& Hung, Arthur& Hooper, Jody E.& Beadling, Carol…[et al.]. 2013. MDM2 Amplification and PI3KCA Mutation in a Case of Sclerosing Rhabdomyosarcoma. Complexity،Vol. 2013, no. 2013, pp.1-8.
https://search.emarefa.net/detail/BIM-1011457
Modern Language Association (MLA)
Kikuchi, Ken…[et al.]. MDM2 Amplification and PI3KCA Mutation in a Case of Sclerosing Rhabdomyosarcoma. Complexity No. 2013 (2013), pp.1-8.
https://search.emarefa.net/detail/BIM-1011457
American Medical Association (AMA)
Kikuchi, Ken& Wettach, George R.& Ryan, Christopher W.& Hung, Arthur& Hooper, Jody E.& Beadling, Carol…[et al.]. MDM2 Amplification and PI3KCA Mutation in a Case of Sclerosing Rhabdomyosarcoma. Complexity. 2013. Vol. 2013, no. 2013, pp.1-8.
https://search.emarefa.net/detail/BIM-1011457
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1011457