[1] Curatolo, P., Bombardieri, R. and Jozwiak, S. (2008) Tuberous Sclerosis. Lancet, 372, 657-668. http://dx.doi.org/10.1016/S0140-6736(08)61279-9
[2] Crino, P.B., Nathanson, K.L. and Henske, E.P. (2006) The Tuberous Sclerosis Complex. The New England Journal of Medicine, 355, 1345-1356. http://dx.doi.org/10.1056/NEJMra055323
[3] Dibble, C.C. and Manning, B.D. (2013) Signal Integration by mTORC1 Coordinates Nutrient Input with Biosynthetic Output. Nature Cell Biology, 15, 555-564. http://dx.doi.org/10.1038/ncb2763
[4] Huang, J. and Manning, B.D. (2008) The TSC1-TSC2 Complex: A Molecular Switchboard Controlling Cell Growth. The Biochemical Journal, 412, 179-190. http://dx.doi.org/10.1042/BJ20080281
[5] Huang, J., Dibble, C.C., Matsuzaki, M. and Manning, B.D. (2008) The TSC1-TSC2 Complex Is Required for Proper Activation of mTOR Complex 2. Molecular and Cellular Biology, 28, 4104-4015.
http://dx.doi.org/10.1128/MCB.00289-08
[6] El-Hashemite, N., Zhang, H., Henske, E.P. and Kwiatkowski, D.J. (2003) Mutation in TSC2 and Activation of Mammalian Target of Rapamycin Signalling Pathway in Renal Angiomyolipoma. Lancet, 361, 1348-1349. http://dx.doi.org/10.1016/S0140-6736(03)13044-9
[7] Kenerson, H., Folpe, A.L., Takayama, T.K. and Yeung, R.S. (2007) Activation of the mTOR Pathway in Sporadic Angiomyolipomas and Other Perivascular Epithelioid Cell Neoplasms. Human Pathology, 38, 1361-1371. http://dx.doi.org/10.1016/j.humpath.2007.01.028
[8] Bissler, J.J., Kingswood, J.C., Radzikowska, E., Zonnenberg, B.A., Frost, M., Belousova, E., et al. (2013) Everolimus for Angiomyolipoma Associated with Tuberous Sclerosis Complex or Sporadic Lymphangioleiomyomatosis (EXIST-2): A Multicentre, Randomised, Double-Blind, Placebo-Controlled Trial. Lancet, 381, 817-824. http://dx.doi.org/10.1016/S0140-6736(12)61767-X
[9] Bissler, J.J., McCormack, F.X., Young, L.R., Elwing, J.M., Chuck, G., Leonard, J.M., et al. (2008) Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis. The New England Journal of Medicine, 358, 140-151. http://dx.doi.org/10.1056/NEJMoa063564
[10] Cibas, E.S., Goss, G.A., Kulke, M.H., Demetri, G.D. and Fletcher, C.D. (2001) Malignant Epithelioid Angiomyolipoma (“Sarcoma ex Angiomyolipoma”) of the Kidney: A Case Report and Review of the Literature. The American Journal of Surgical Pathology, 25, 121-126.
http://dx.doi.org/10.1097/00000478-200101000-00014
[11] Brimo, F., Robinson, B., Guo, C., Zhou, M., Latour, M. and Epstein, J.I. (2010) Renal Epithelioid Angiomyolipoma with Atypia: A Series of 40 Cases with Emphasis on Clinicopathologic Prognostic Indicators of Malignancy. The American Journal of Surgical Pathology, 34, 715-722.
[12] Nese, N., Martignoni, G., Fletcher, C.D., Gupta, R., Pan, C.C., Kim, H., et al. (2011) Pure Epithelioid PEComas (So-Called Epithelioid Angiomyolipoma) of the Kidney: A Clinicopathologic Study of 41 Cases: Detailed Assessment of Morphology and Risk Stratification. The American Journal of Surgical Pathology, 35, 161-176. http://dx.doi.org/10.1097/PAS.0b013e318206f2a9
[13] Wolff, N., Kabbani, W., Bradley, T., Raj, G., Watumull, L. and Brugarolas, J. (2010) Sirolimus and Temsirolimus for Epithelioid Angiomyolipoma. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, 28, e65-e68. http://dx.doi.org/10.1200/JCO.2009.26.3061
[14] Wagner, A.J., Malinowska-Kolodziej, I., Morgan, J.A., Qin, W., Fletcher, C.D., Vena, N., et al. (2010) Clinical Activity of mTOR Inhibition with Sirolimus in Malignant Perivascular Epithelioid Cell Tumors: Targeting the Pathogenic Activation of mTORC1 in Tumors. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, 28, 835-840.
http://dx.doi.org/10.1200/JCO.2009.25.2981
[15] Shitara, K., Yatabe, Y., Mizota, A., Sano, T., Nimura, Y. and Muro, K. (2011) Dramatic Tumor Response to Everolimus for Malignant Epithelioid Angiomyolipoma. Japanese Journal of Clinical Oncology, 41, 814-816. http://dx.doi.org/10.1093/jjco/hyr035
[16] Higa, F., Uchihara, T., Haranaga, S., Yara, S., Tateyama, M., Oshiro, Y., et al. (2009) Malignant Epithelioid Angiomyolipoma in the Kidney and Liver of a Patient with Pulmonary Lymphangioleiomyomatosis: Lack of Response to Sirolimus. Internal Medicine, 48, 1821-1825.
http://dx.doi.org/10.2169/internalmedicine.48.2411
[17] Subbiah, V., Trent, J.C. and Kurzrock, R. (2010) Resistance to Mammalian Target of Rapamycin Inhibitor Therapy in Perivascular Epithelioid Cell Tumors. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, 28, e415. http://dx.doi.org/10.1200/JCO.2010.29.4678
[18] Vries, R.G., Bezrookove, V., Zuijderduijn, L.M., Kia, S.K., Houweling, A., Oruetxebarria, I., Raap, A.K. and Verrijzer, C.P. (2005) Cancer-Associated Mutations in Chromatin Remodeler hSNF5 Promote Chromosomal Instability by Compromising the Mitotic Checkpoint. Genes & Development, 19, 665-670. http://dx.doi.org/10.1101/gad.335805
[19] Jackson, E.M., Sievert, A.J., Gai, X., Hakonarson, H., Judkins, A.R., Tooke, L., et al. (2009) Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analysis of INI1/SMARCB1 in Malignant Rhabdoid Tumors. Clinical Cancer Research: An Official Journal of the American Association for Cancer Research, 15, 1923-1930.
http://dx.doi.org/10.1158/1078-0432.CCR-08-2091
[20] Kohashi, K., Oda, Y., Yamamoto, H., Tamiya, S., Izumi, T., Ohta, S., Taguchi, T., Suita, S. and Tsuneyoshi, M. (2007) Highly Aggressive Behavior of Malignant Rhabdoid Tumor: A Special Reference to SMARCB1/INI1 Gene Alterations Using Molecular Genetic Analysis including Quantitative Real-Time PCR. Journal of Cancer Research and Clinical Oncology, 133, 817-824.
http://dx.doi.org/10.1007/s00432-007-0223-z
[21] Kohashi, K., Oda, Y., Yamamoto, H., Tamiya, S., Oshiro, Y., Izumi, T., Taguchi, T. and Tsuneyoshi, M. (2008) SMARCB1/INI1 Protein Expression in Round Cell Soft Tissue Sarcomas Associated with Chromosomal Translocations Involving EWS: A Special Reference to SMARCB1/INI1 Negative Variant Extraskeletal Myxoid Chondrosarcoma. The American Journal of Surgical Pathology, 32, 1168-1174. http://dx.doi.org/10.1097/PAS.0b013e318161781a
[22] Kohashi, K., Oda, Y., Yamamoto, H., Tamiya, S., Matono, H., Iwamoto, Y., Taguchi, T. and Tsuneyoshi, M. (2010) Reduced Expression of SMARCB1/INI1 Protein in Synovial Sarcoma. Modern Pathology, 23, 981-990. http://dx.doi.org/10.1038/modpathol.2010.71
[23] Brenca, M., Rossi, S., Lorenzetto, E., Piccinin, E., Piccinin, S., Rossi, F.M., et al. (2013) SMARCB1/INI1 Genetic Inactivation Is Responsible for Tumorigenic Properties of Epithelioid Sarcoma Cell Line VAESBJ. Molecular Cancer Therapeutics, 12, 1060-1072. http://dx.doi.org/10.1158/1535-7163.MCT-13-0005
[24] Kohashi, K., Izumi, T., Oda, Y., Yamamoto, H., Tamiya, S., Taguchi, T., et al. (2009) Infrequent SMARCB1/INI1 Gene Alteration in Epithelioid Sarcoma: A Useful Tool in Distinguishing Epithelioid Sarcoma from Malignant Rhabdoid Tumor. Human Pathology, 40, 349-355.
http://dx.doi.org/10.1016/j.humpath.2008.08.007
[25] Imbalzano, A.N. and Jones, S.N. (2005) Snf5 Tumor Suppressor Couples Chromatin Remodeling, Checkpoint Control, and Chromosomal Stability. Cancer Cell, 7, 294-295.
http://dx.doi.org/10.1016/j.ccr.2005.04.001
[26] Alarcon-Vargas, D., Zhang, Z., Agarwal, B., Challagulla, K., Mani, S. and Kalpana, G.V. (2006) Targeting Cyclin D1, a Downstream Effector of INI1/hSNF5, in Rhabdoid Tumors. Oncogene, 25, 722-734. http://dx.doi.org/10.1038/sj.onc.1209112
[27] Smith, M.E., Cimica, V., Chinni, S., Challagulla, K., Mani, S. and Kalpana, G.V. (2008) Rhabdoid Tumor Growth Is Inhibited by Flavopiridol. Clinical Cancer Research: An Official Journal of the American Association for Cancer Research, 14, 523-532. http://dx.doi.org/10.1158/1078-0432.CCR-07-1347