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Volume 2013 (2013), Article ID 520858, 8 pages
MDM2 Amplification and PI3KCA Mutation in a Case of Sclerosing Rhabdomyosarcoma
1Pediatric Cancer Biology Program, Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health & Science University, 3181 S.W. Sam Jackson Park Road, Mail Code L321, Portland, OR 97239-3098, USA
2Department of Pathology, Oregon Health & Science University, 3181 S.W. Sam Jackson Park Road, Mail Code L41, Portland, OR 97239-3098, USA
3Division of Hematology-Oncology, Department of Medicine, Oregon Health & Science University, Portland, OR 97239, USA
4Department of Radiation Oncology, Oregon Health & Science University, Portland, OR 97239, USA
5Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA
Received 9 March 2013; Accepted 24 April 2013
Academic Editor: Cyril Fisher
Copyright © 2013 Ken Kikuchi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- T. Mentzel and D. Katenkamp, “Sclerosing, pseudovascular rhabdomyosarcoma in adults. Clinicopathological and immunohistochemical analysis of three cases,” Virchows Archiv, vol. 436, no. 4, pp. 305–311, 2000.
- A. L. Folpe, J. K. McKenney, J. A. Bridge, and S. W. Weiss, “Sclerosing rhabdomyosarcoma in adults: report of four cases of a hyalinizing, matrix-rich variant of rhabdomyosarcoma that may be confused with osteosarcoma, chondrosarcoma, or angiosarcoma,” American Journal of Surgical Pathology, vol. 26, no. 9, pp. 1175–1183, 2002.
- T. A. Knipe, R. K. Chandra, and M. F. Bugg, “Sclerosing rhabdomyosarcoma: a rare variant with predilection for the head and neck,” Laryngoscope, vol. 115, no. 1, pp. 48–50, 2005.
- B. Vadgama, N. J. Sebire, M. Malone, and A. D. Ramsay, “Sclerosing rhabdomyosarcoma in childhood: case report and review of the literature,” Pediatric and Developmental Pathology, vol. 7, no. 4, pp. 391–396, 2004.
- M. C. Chiles, D. M. Parham, S. J. Qualman et al., “Sclerosing rhabdomyosarcomas in children and adolescents: a clinicopathologic review of 13 cases from the Intergroup Rhabdomyosarcoma Study Group and Children's Oncology Group,” Pediatric and Developmental Pathology, vol. 7, no. 6, pp. 583–594, 2004.
- R. Croes, M. Debiec-Rychter, K. Cokelaere, R. de Vos, A. Hagemeijer, and R. Sciot, “Adult sclerosing rhabdomyosarcoma: cytogenetic link with embryonal rhabdomyosarcoma,” Virchows Archiv, vol. 446, no. 1, pp. 64–67, 2005.
- E. Zambrano, A. R. Pérez-Atayde, W. Ahrens, and M. Reyes-Múgica, “Pediatric sclerosing rhabdomyosarcoma,” International Journal of Surgical Pathology, vol. 14, no. 3, pp. 193–199, 2006.
- C. Kuhnen, P. Herter, I. Leuschner et al., “Sclerosing pseudovascular rhabdomyosarcoma—immunohistochemical, ultrastructural, and genetic findings indicating a distinct subtype of rhabdomyosarcoma,” Virchows Archiv, vol. 449, no. 5, pp. 572–578, 2006.
- D. Bouron-Dal Soglio, A. L. Rougemont, R. Absi et al., “SNP genotyping of a sclerosing rhabdomyosarcoma: reveals highly aneuploid profile and a specific MDM2/HMGA2 amplification,” Human Pathology, vol. 40, no. 9, pp. 1347–1352, 2009.
- J. Dunlap, C. Beadling, A. Warrick et al., “Multiplex high-throughput gene mutation analysis in acute myeloid leukemia,” Human Pathology, vol. 43, no. 12, pp. 2167–2176, 2012.
- J. R. Hart, L. Liao, J. R. Yates III, and P. K. Vogt, “Essential role of Stat3 in PI3K-induced oncogenic transformation,” Proceedings of the National Academy of Sciences of the United States of America, vol. 108, no. 32, pp. 13247–13252, 2011.
- M. S. Dai, S. X. Zeng, Y. Jin, X. X. Sun, L. David, and H. Lu, “Ribosomal protein L23 activates p53 by inhibiting MDM2 function in response to ribosomal perturbation but not to translation inhibition,” Molecular and Cellular Biology, vol. 24, no. 17, pp. 7654–7668, 2004.
- A. R. Brothman, D. L. Persons, and L. G. Shaffer, “Nomenclature evolution: changes in the ISCN from the 2005 to the 2009 edition,” Cytogenetic and Genome Research, vol. 127, no. 1, pp. 1–4, 2010.
- A. F. Nascimento and C. D. M. Fletcher, “Spindle cell rhabdomyosarcoma in adults,” American Journal of Surgical Pathology, vol. 29, no. 8, pp. 1106–1113, 2005.
- T. Mentzel and C. Kuhnen, “Spindle cell rhabdomyosarcoma in adults: clinicopathological and immunohistochemical analysis of seven new cases,” Virchows Archiv, vol. 449, no. 5, pp. 554–560, 2006.
- Pathology and Genetics of Tumours of Soft Tissue and Bone, World Health Organization Classification of Tumor, IARC, Lyon, France, 2013.
- A. Italiano, L. Bianchini, F. Keslair et al., “HMGA2 is the partner of MDM2 in well-differentiated and dedifferentiated liposarcomas whereas CDK4 belongs to a distinct inconsistent amplicon,” International Journal of Cancer, vol. 122, no. 10, pp. 2233–2241, 2008.
- P. Ragazzini, G. Gamberi, L. Pazzaglia et al., “Amplification of CDK4, MDM2, SAS and GLI genes in leiomyosarcoma, alveolar and embryonal rhabdomyosarcoma,” Histology and Histopathology, vol. 19, no. 2, pp. 401–411, 2004.
- D. Gisselsson, P. Andreasson, J. M. Meis-Kindblom, L. G. Kindblom, F. Mertens, and N. Mandahl, “Amplification of 12q13 and 12q15 sequences in a sclerosing epithelioid fibrosarcoma,” Cancer Genetics and Cytogenetics, vol. 107, no. 2, pp. 102–106, 1998.
- L. T. Vassilev, B. T. Vu, B. Graves et al., “In vivo activation of the p53 pathway by small-molecule antagonists of MDM2,” Science, vol. 303, no. 5659, pp. 844–848, 2004.
- I. Ray-Coquard, J. Y. Blay, A. Italiano et al., “Effect of the MDM2 antagonist RG7112 on the P53 pathway in patients with MDM2-amplified, well-differentiated or dedifferentiated liposarcoma: an exploratory proof-of-mechanism study,” The Lancet Oncology, vol. 13, no. 11, pp. 1133–1140, 2012.
- K. G. Wiman, “Pharmacological reactivation of mutant p53: from protein structure to the cancer patient,” Oncogene, vol. 29, no. 30, pp. 4245–4252, 2010.
- A. Yoda, K. Toyoshima, Y. Watanabe et al., “Arsenic trioxide augments Chk2/p53-mediated apoptosis by inhibiting oncogenic Wip1 phosphatase,” Journal of Biological Chemistry, vol. 283, no. 27, pp. 18969–18979, 2008.
- B. Karakas, K. E. Bachman, and B. H. Park, “Mutation of the PIK3CA oncogene in human cancers,” British Journal of Cancer, vol. 94, no. 4, pp. 455–459, 2006.
- J. Barretina, B. S. Taylor, S. Banerji et al., “Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy,” Nature Genetics, vol. 42, no. 8, pp. 715–721, 2010.
- N. Shukla, N. Ameur, I. Yilmaz et al., “Oncogene mutation profiling of pediatric solid tumors reveals significant subsets of embryonal rhabdomyosarcoma and neuroblastoma with mutated genes in growth signaling pathways,” Clinical Cancer Research, vol. 18, no. 3, pp. 748–757, 2012.
- T. Ikenoue, F. Kanai, Y. Hikiba et al., “Functional analysis of PIK3CA gene mutations in human colorectal cancer,” Cancer Research, vol. 65, no. 11, pp. 4562–4567, 2005.
- L. Cen, F. C. Hsieh, H. J. Lin, C. S. Chen, S. J. Qualman, and J. Lin, “PDK-1/AKT pathway as a novel therapeutic target in rhabdomyosarcoma cells using OSU-03012 compound,” British Journal of Cancer, vol. 97, no. 6, pp. 785–791, 2007.
- H. Hirai, H. Sootome, Y. Nakatsuru et al., “MK-2206, an allosteric akt inhibitor, enhances antitumor efficacy by standard chemotherapeutic agents or molecular targeted drugs in vitro and in vivo,” Molecular Cancer Therapeutics, vol. 9, no. 7, pp. 1956–1967, 2010.
- K. Kojima, M. Shimanuki, M. Shikami et al., “The dual PI3 kinase/mTOR inhibitor PI-103 prevents p53 induction by Mdm2 inhibition but enhances p53-mediated mitochondrial apoptosis in p53 wild-type AML,” Leukemia, vol. 22, no. 9, pp. 1728–1736, 2008.
- J. R. Adams, K. Xu, J. C. Liu et al., “Cooperation between Pik3ca and p53 mutations in mouse mammary tumor formation,” Cancer Research, vol. 71, no. 7, pp. 2706–2717, 2011.