Year: 2012
Type: article
Study design: Observational Study
Abstract: BACKGROUND: The diagnosis of atypical teratoid/rhabdoid tumor (AT/RT) may pose difficulties.We therefore aim to share our experiences as reference pathologists within the European Rhabdoid Tumor Registry (EURHAB) and the International Choroid Plexus Tumor Registry CPT-SIOP.METHODS: Evaluation of clinical, histological and molecular genetic features of AT/RT diagnosed at the Institute of Neuropathology, University Hospital Mu ¨nster.RESULTS: In the vast majority of brain tumors (46/47) seen in the context of the European Rhabdoid Tumor Registry (EURHAB), the diagnosis of AT/RT could be confirmed.The median age of the patients was 1 year (interquartile range 1-3), 59% of tumors were located supratentorially.Loss of nuclear SMARCB1/INI1 staining was encountered in 44 tumors (96%), but SMARCB1/INI1 staining was retained in two cases.In one of those, loss of protein expression of another SWI/SNF chromatin-remodeling complex member, the ATPase subunit SMARCA4/BRG1 due to a homozygous mutation could be demonstrated.A number of 14 CPT-SIOP cases, which had been suspected to represent choroid plexus carcinoma, also turned out to be AT/RT.The median age of the patients was 1 year (interquartile range 1-3), only 29% of tumors were of supratentorial location.Twelve tumors showed loss of nuclear SMARCB1/INI1 staining (86%), but SMARCB1/INI1 staining was retained in two cases, one showing loss of SMARCA4/BRG1 expression due to a homozygous mutation.CONCLUSIONS: In the majority of cases seen within EURHAB, the diagnosis of AT/RT was confirmed.The high number of AT/RT encountered within CPT-SIOP highlights the importance of considering AT/RT as a differential diagnosis in cases suspected to be choroid plexus carcinoma.Importantly, retained SMARCB1/INI1 staining does not rule out the possibility of AT/RT and genetic alterations of other members of the SWI/SNF complex, namely SMARCA4/BRG1, need to be considered.SUPPORT: MH and WP are supported by IZKF Mu ¨nster (Ha3/016/11) and Deutsche Krebshilfe (DK 108263).
Source: Neuro-Oncology
Authors: M. Hasselblatt, U. Kordes, J. Wolff, A. Jeibmann, M. Fruhwald, W. Paulus, M. Hasselblatt, S. Isken, U. Kordes, R. Siebert, R. Schneppenheim, M. Fruhwald, W. Paulus, M. Benesch, G. Fleischhack, B. Gruhn, P.-G. Schlegel, O. Witt, W. Holter, A. Reiter, C. Urban, M. C. Fruhwald, L. Lafay-Cousin, A. Huang, C. Hawkins, C. Fryer, E. Bouffet, C. Kruchko, J. Propp, B. McCarthy, T. Dolecek, K. Kerl, R. Unland, H. Jurgens, M. Fruhwald, M. W. Kieran, C. W. M. Roberts, J. A. Biegel, L. E. MacConaill, B. E. Rich, K. L. Ligon, S. Chi, A. Kondo, K. Shimoji, I. Ogino, F. Junya, S. Sakaguchi, M. Miyajima, H. Arai, I. Alimova, J. Knipstein, P. Harris, S. Venkataraman, V. Marquez, D. Birks, N. Foreman, R. Vibhakar, K. Bartelheim, M. Hasselblatt, M. Warmuth-Metz, R.-D. Kortmann, J. Gerss, R. Schneppenheim, R. Siebert, M. C. Fruhwald, D. Rizzo, P. Freneaux, H. Brisse, B. Parfait, F. Doz, C. Dufour, J.-L. Stephan, C. Edan, D. Ranchere-Vince, M. Peuchmaur, O. Delattre, F. Bourdeaut, S. Y. Soh, M. Y. Chan, W. T. Seow, K. Chang, W. H. Ng, A. M. Tan, J. Knipstein, I. Alimova, D. Birks, R. Vibhakar, K. Yamasaki, C. Tanaka, K. Okada, H. Fujisaki, Y. Osugi, J. Hara, Y. Matsusaka, H. Sakamoto, T. Inoue, P. Batchelder, D. Birks, B. K. DeMasters, N. Foreman, M. Handler, D. Sumerauer, P. Vasovcak, A. Puchmajerova, M. Zapotocky, A. Vicha, M. Kyncl, J. Zamecnik, Z. Sedlacek, R. Kodet, O. Geludkova, E. Kumirova, A. Korshunov, Y. Kushel, A. Melikyan, L. Shishkina, M. Ryzhova, V. Ozerova, S. Gorbatyh, V. Popov, E. Pavlova, O. Scherbenko, I. Borodina, D. Birks, A. Donson, C. Dunham, E. Algar, R. Vibhakar, M. Handler, N. Foreman, E. Algar, D. Popovski, A. Muscat, D. Ashley, P. Modena, I. Sardi, M. Brenca, L. Giunti, R. Maestro, A. M. Buccoliero, B. Pollo, L. Genitori, F. Giangaspero, M. Massimino, V. Amani, A. Griesinger, D. Birks, A. Donson, L. Bemis, N. Foreman, S. Schittone, D. Puccetti, D. Wargowski, L. Messiaen, N. Patel, S. Salamat, D. Rusinak, B. Iskandar, X. Lun, A. Jayanthan, P. Forsyth, A. Narendran
Institutions: University of Münster, Universität Hamburg, Augsburg University, Christian-Albrechts-Universität zu Kiel, Boston Children's Hospital, Medical University of Graz, Heidelberg University, Friedrich-Alexander-Universität Erlangen-Nürnberg, Justus-Liebig-Universität Gießen, University of Illinois Chicago, Harvard University, Children's Hospital of Philadelphia, University of Colorado Boulder, Leipzig University, Institut Curie, Deakin University, Sapienza University of Rome, University of Colorado Denver, University of Wisconsin–Madison, University of Alabama at Birmingham
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W2104088791