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14 results on '"Buccoliero, A.M."'

2. Title: Defining the clinical and prognostic landscape of embryonal tumors with multi-layered rosettes (ETMRs), a rare brain tumor registry (RBTC) study.

Author

Gajjar A., Leary S., Mulcahy Levy J.M., Lassaletta A., Rivas E., Reddy A., Gillespie G.Y., Gupta N., Yalon-Oren M., Amariglio L., Nakamura H., Wu K.-S., Wong T.-T., Ra Y.-S., Spina M.L., Emanuele P.V., Massimi L., Buccoliero A.M., Hansford J.R., Grundy R.G., Adamek D., Fangusaro J., Scharnhorst D., Johnston D., Lafay-Cousin L., Camelo-Piragua S., Kabbara N., Boutarbouch M., Da Costa M.J.G., Hanson D., Wood P., Al-Hussaini M., Amayiri N., Wang Y., Catchpoole D., Michaud J., Bendel A.E., Ellezam B., Gerber N., Plant A., Jeffery R., Dunham C., Moertel C., Walter A., Ziegler D., Dodgshun A., Gottardo N., Demir A., Ramanujachar R., Raabe E., Mary S., Dirks P., Taylor M., Eugene H., Lindsey H., Tihan T., Mette J., Dahl C., Low S., Smith A., Hazrati L.-N., Kresak J., Gino S., Tan E., Morales A., Santa-Maria V., Hawkins C., Bartels U., Stephens D., Nobusawa S., Dufour C., Bourdeaut F., Andre N., Bouffet E., Huang A., Khan S., Solano-Paez P., Suwal T., Al-Karmi S., Lu M., Ho B., Fouladi M., Gajjar A., Leary S., Mulcahy Levy J.M., Lassaletta A., Rivas E., Reddy A., Gillespie G.Y., Gupta N., Yalon-Oren M., Amariglio L., Nakamura H., Wu K.-S., Wong T.-T., Ra Y.-S., Spina M.L., Emanuele P.V., Massimi L., Buccoliero A.M., Hansford J.R., Grundy R.G., Adamek D., Fangusaro J., Scharnhorst D., Johnston D., Lafay-Cousin L., Camelo-Piragua S., Kabbara N., Boutarbouch M., Da Costa M.J.G., Hanson D., Wood P., Al-Hussaini M., Amayiri N., Wang Y., Catchpoole D., Michaud J., Bendel A.E., Ellezam B., Gerber N., Plant A., Jeffery R., Dunham C., Moertel C., Walter A., Ziegler D., Dodgshun A., Gottardo N., Demir A., Ramanujachar R., Raabe E., Mary S., Dirks P., Taylor M., Eugene H., Lindsey H., Tihan T., Mette J., Dahl C., Low S., Smith A., Hazrati L.-N., Kresak J., Gino S., Tan E., Morales A., Santa-Maria V., Hawkins C., Bartels U., Stephens D., Nobusawa S., Dufour C., Bourdeaut F., Andre N., Bouffet E., Huang A., Khan S., Solano-Paez P., Suwal T., Al-Karmi S., Lu M., Ho B., and Fouladi M.

Abstract

ETMR, an aggressive disease characterised by C19MC alterations, were previously categorised as various histologic diagnoses. The clinical spectrum and impact of conventional multi-modal therapy on this new WHO diagnostic category remains poorly understood as a majority of ~200 cases reported to date lack molecular confirmation. We undertook comprehensive clinico-pathologic studies of a large molecularly confirmed cohort to improve disease recognition and treatment approaches. Amongst 623 CNSPNETs patients enrolled in the RBTC registry, 159 primary ETMRs were confirmed based on a combination of FISH (125), methylation analysis (88), SNP and RNAseq (32) analyses; 91% had C19MC amplification/gains/fusions, 9% lacked C19MC alterations but had global methylation features of ETMR NOS. ETMRs arose in young patients (median age 26 months) predominantly as localized disease (M0-72%, M2-3 -18%) at multiple locations including cerebrum (60%) cerebellum (18%), midline structures (6%); notably 10% were brainstem primaries mimicking DIPG. Uni-and multivariate analyses of clinical and treatment details of curative regimens available for 110 patients identified metastatic disease (p=0.002), brainstem locations(p=0.005), extent of surgery, receipt of multi-modal therapy including high dose chemotherapy and radiation (P<0.001) as significant treatment prognosticators, while C19MC status, age and gender were nonsignificant risk factors. Analyses of events in all patients showed respective EFS at 3 and 12 months of 84%(95%CI:77-91) and 37%(95%CI:20-41) and 4yr OS of 27%(95%CI:18-37) indicating despite intensified therapies ETMR is a rapidly progressive and fatal disease. Our comprehensive data on the largest cohort of molecularly-confirmed ETMRs provides a critical framework to guide current clinical management and development of clinical trials.

Published
2021

4. Histopathological findings in brain tissue obtained during epilepsy surgery

Author

Blümcke, I., Spreafico, R., Haaker, G., Coras, R., Kobow, K., Bien, C.G., Pfäfflin, M., Elger, C., Widman, G., Schramm, J., Becker, A., Braun, K.P.J., Leijten, F.S.S., Baayen, J.C., Aronica, E., Chassoux, F., Hamer, H., Stefan, H., Rössler, K., Thom, M., Walker, M.C., Sisodiya, S.M., Duncan, J.S., McEvoy, A.W., Pieper, T., Holthausen, H., Kudernatsch, M., Meencke, H.J., Kahane, P., Schulze-Bonhage, A., Zentner, J., Heiland, D., Urbach, H., Steinhoff, B.J., Bast, T., Tassi, L., Lo Russo, G., Ozkara, C., Oz, B., Krsek, P., Vogelgesang, S., Runge, U., Lerche, H., Weber, Y., Honavar, M., Pimentel, J., Arzimanoglou, A., Ulate-Campos, A., Noachtar, S., Hartl, E., Schijns, O.E.M.G., Guerrini, R., Barba, C., Jacques, T.S., Cross, J.H., Feucht, M., Mühlebner, A., Grunwald, T., Trinka, E., Winkler, P.A., Gil-Nagel, A., Toledano Delgado, R., Mayer, T., Lutz, M., Zountsas, B., Garganis, K., Rosenow, F., Hermsen, A., Örtzen, T.J. von, Diepgen, T.L., Avanzini, G., Aparicio, J., Bento, C., Beckervordersandforth, J., Buccoliero, A.M., Cabral, P., Chamadoira, C., Colon, A.J., Chabardès, S., Carpenter, S., Czech, T., Dressler, A., Deleo, F., Dílio, A., Dings, J., Devaux, B., De Tisi, J., De Bellescize, J., Ebner, A., Franke, K., Groeppel, G., Giordano, F., Gozzo, F., Garbelli, R., Guenot, M., García‐Morales, I., Gómez‐Angulo, J.C., Garcia, G., Hainfellner, J.A., Höfler, J., Hoogland, G., Hendriks, M.P.H., Hofman, P., Harding, B., Huppertz, H.J., Herms, J., Hilkman, D.M.W., Hamelin, S., Idema, S., Jansen, F.E., Jahodova, A., Keeley, A., Kalss, G., Kudr, M., Kroell, J., Kokkinos, V., Keo Kosal, P., Kalbhenn, T., Leitinger, M., Landré, E., Melo Pires, M., Matas, A., Mann, M.W., Ostrowsky‐Coste, K., Prinz, M., Puttinger, G., Peraud, A., Rangel Pinho, R., Romero, C., Rego, R., Rouhl, R.P.W., Ryvlin, P., Rumia, J., Rampp, S., Scholl, T., Schulz, R., Stone, T.J., Streichenberger, N., Tisdall, M., Turak, B., Taipa, R., Uzan, M., Kranen‐Mastenbroek, V. van, Varlet, P., Vlooswijk, M.C.G., Wagner, L., Weis, S., Blümcke, I., Spreafico, R., Haaker, G., Coras, R., Kobow, K., Bien, C.G., Pfäfflin, M., Elger, C., Widman, G., Schramm, J., Becker, A., Braun, K.P.J., Leijten, F.S.S., Baayen, J.C., Aronica, E., Chassoux, F., Hamer, H., Stefan, H., Rössler, K., Thom, M., Walker, M.C., Sisodiya, S.M., Duncan, J.S., McEvoy, A.W., Pieper, T., Holthausen, H., Kudernatsch, M., Meencke, H.J., Kahane, P., Schulze-Bonhage, A., Zentner, J., Heiland, D., Urbach, H., Steinhoff, B.J., Bast, T., Tassi, L., Lo Russo, G., Ozkara, C., Oz, B., Krsek, P., Vogelgesang, S., Runge, U., Lerche, H., Weber, Y., Honavar, M., Pimentel, J., Arzimanoglou, A., Ulate-Campos, A., Noachtar, S., Hartl, E., Schijns, O.E.M.G., Guerrini, R., Barba, C., Jacques, T.S., Cross, J.H., Feucht, M., Mühlebner, A., Grunwald, T., Trinka, E., Winkler, P.A., Gil-Nagel, A., Toledano Delgado, R., Mayer, T., Lutz, M., Zountsas, B., Garganis, K., Rosenow, F., Hermsen, A., Örtzen, T.J. von, Diepgen, T.L., Avanzini, G., Aparicio, J., Bento, C., Beckervordersandforth, J., Buccoliero, A.M., Cabral, P., Chamadoira, C., Colon, A.J., Chabardès, S., Carpenter, S., Czech, T., Dressler, A., Deleo, F., Dílio, A., Dings, J., Devaux, B., De Tisi, J., De Bellescize, J., Ebner, A., Franke, K., Groeppel, G., Giordano, F., Gozzo, F., Garbelli, R., Guenot, M., García‐Morales, I., Gómez‐Angulo, J.C., Garcia, G., Hainfellner, J.A., Höfler, J., Hoogland, G., Hendriks, M.P.H., Hofman, P., Harding, B., Huppertz, H.J., Herms, J., Hilkman, D.M.W., Hamelin, S., Idema, S., Jansen, F.E., Jahodova, A., Keeley, A., Kalss, G., Kudr, M., Kroell, J., Kokkinos, V., Keo Kosal, P., Kalbhenn, T., Leitinger, M., Landré, E., Melo Pires, M., Matas, A., Mann, M.W., Ostrowsky‐Coste, K., Prinz, M., Puttinger, G., Peraud, A., Rangel Pinho, R., Romero, C., Rego, R., Rouhl, R.P.W., Ryvlin, P., Rumia, J., Rampp, S., Scholl, T., Schulz, R., Stone, T.J., Streichenberger, N., Tisdall, M., Turak, B., Taipa, R., Uzan, M., Kranen‐Mastenbroek, V. van, Varlet, P., Vlooswijk, M.C.G., Wagner, L., and Weis, S.

Abstract

Item does not contain fulltext, Background: Detailed neuropathological information on the structural brain lesions underlying seizures is valuable for understanding drug-resistant focal epilepsy. Methods: We report the diagnoses made on the basis of resected brain specimens from 9523 patients who underwent epilepsy surgery for drug-resistant seizures in 36 centers from 12 European countries over 25 years. Histopathological diagnoses were determined through examination of the specimens in local hospitals (41%) or at the German Neuropathology Reference Center for Epilepsy Surgery (59%). Results: The onset of seizures occurred before 18 years of age in 75.9% of patients overall, and 72.5% of the patients underwent surgery as adults. The mean duration of epilepsy before surgical resection was 20.1 years among adults and 5.3 years among children. The temporal lobe was involved in 71.9% of operations. There were 36 histopathological diagnoses in seven major disease categories. The most common categories were hippocampal sclerosis, found in 36.4% of the patients (88.7% of cases were in adults), tumors (mainly ganglioglioma) in 23.6%, and malformations of cortical development in 19.8% (focal cortical dysplasia was the most common type, 52.7% of cases of which were in children). No histopathological diagnosis could be established for 7.7% of the patients. Conclusions: In patients with drug-resistant focal epilepsy requiring surgery, hippocampal sclerosis was the most common histopathological diagnosis among adults, and focal cortical dysplasia was the most common diagnosis among children. Tumors were the second most common lesion in both groups. (Funded by the European Union and others.)

Published
2017

5. Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations

Author

Bongaarts, A. (Anika), Giannikou, K. (Krinio), Reinten, R.J. (Roy J.), Anink, J.J. (Jasper), Mills, J.D. (James D.), Jansen, F.H. (Flip), Spliet, W.G.M. (Wim), den Dunnen, W.F.A. (Willfred F.A.), Coras, R. (Roland), Blümcke, I. (Ingmar), Paulus, W. (Werner), Scholl, T. (Theresa), Feucht, M. (Martha), Kotulska, K. (Katarzyna), Jozwiak, S., Buccoliero, A.M. (Anna Maria), Caporalini, C. (Chiara), Giordano, F. (Flavio), Genitori, L. (Lorenzo), Soylemezoglu, F. (Figen), Pimentel, J., Nellist, M.D. (Mark), Schouten-van Meeteren, A.Y.N. (Antoinette), Nag, A. (Anwesha), Mühlebner, A. (Angelika), Kwiatkowski, D. (David), Aronica, E.M.A. (Eleonora), Bongaarts, A. (Anika), Giannikou, K. (Krinio), Reinten, R.J. (Roy J.), Anink, J.J. (Jasper), Mills, J.D. (James D.), Jansen, F.H. (Flip), Spliet, W.G.M. (Wim), den Dunnen, W.F.A. (Willfred F.A.), Coras, R. (Roland), Blümcke, I. (Ingmar), Paulus, W. (Werner), Scholl, T. (Theresa), Feucht, M. (Martha), Kotulska, K. (Katarzyna), Jozwiak, S., Buccoliero, A.M. (Anna Maria), Caporalini, C. (Chiara), Giordano, F. (Flavio), Genitori, L. (Lorenzo), Soylemezoglu, F. (Figen), Pimentel, J., Nellist, M.D. (Mark), Schouten-van Meeteren, A.Y.N. (Antoinette), Nag, A. (Anwesha), Mühlebner, A. (Angelika), Kwiatkowski, D. (David), and Aronica, E.M.A. (Eleonora)

Abstract

Subependymal giant cell astrocytomas (SEGAs) are rare, low-grade glioneuronal brain tumors that occur almost exclusively in patients with tuberous sclerosis complex (TSC). Though histologically benign, SEGAs can lead to serious neurological complications, including hydrocephalus, intractable seizures and death. Previous studies in a limited number of SEGAs have provided evidence for a biallelic two-hit inactivation of either TSC1 or TSC2, resulting in constitutive activation of the mechanistic target of rapamycin complex 1 pathway. The activating BRAF V600E mutation is a common genetic alteration in low grade gliomas and glioneuronal tumors, and has been reported in SEGAs as well. In the present study, we assessed the prevalence of the BRAF V600E mutation in a large cohort of TSC related SEGAs (n=58 patients including 56 with clinical TSC) and found no evidence of either BRAF V600E or other mutations in BRAF. To confirm that these SEGAs fit the classic model of two hit TSC1 or TSC2 inactivation, we also performed massively parallel sequencing of these loci. Nineteen (19) of 34 (56%) samples had mutations in TSC2, 10 (29%) had mutations in TSC1, while 5 (15%) had no mutation identified in TSC1/TSC2. The majority of these samples had loss of heterozygosity in the same gene in which the mutation was identified. These results significantly extend previous studies, and in agreement with the Knudson two hit mechanism indicate that biallelic alterations in TSC2 and less commonly, TSC1 are consistently seen in SEGAs.

Published
2017
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6. New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

Author

Sturm, D., Orr, B.A., Toprak, U.H., Hovestadt, V., Jones, D.T., Capper, D., Sill, M., Buchhalter, I., Northcott, P.A., Leis, I., Ryzhova, M., Koelsche, C., Pfaff, E., Allen, S.J., Balasubramanian, G., Worst, B.C., Pajtler, K.W., Brabetz, S., Johann, P.D., Sahm, F., Reimand, J., Mackay, A., Carvalho, D.M., Remke, M., Phillips, J.J., Perry, A., Cowdrey, C., Drissi, R., Fouladi, M., Giangaspero, F., Lastowska, M., Grajkowska, W., Scheurlen, W., Pietsch, T., Hagel, C., Gojo, J., Lotsch, D., Berger, W., Slavc, I., Haberler, C., Jouvet, A., Holm, S., Hofer, S., Prinz, M., Keohane, C., Fried, I., Mawrin, C., Scheie, D., Mobley, B.C., Schniederjan, M.J., Santi, M., Buccoliero, A.M., Dahiya, S., Kramm, C.M., Bueren, A.O. von, Hoff, K. von, Rutkowski, S., Herold-Mende, C., Fruhwald, M.C., Milde, T., Hasselblatt, M., Wesseling, P., Rossler, J., Schuller, U., Ebinger, M., Schittenhelm, J., Frank, S., Grobholz, R., Vajtai, I., Hans, V., Schneppenheim, R., Zitterbart, K., Collins, V.P., Aronica, E., Varlet, P., Puget, S., Dufour, C., Grill, J., Figarella-Branger, D., Wolter, M., Schuhmann, M.U., Shalaby, T., Grotzer, M., Meter, T. van, Monoranu, C.M., Felsberg, J., Reifenberger, G., Snuderl, M., Forrester, L.A., Koster, J., Versteeg, R., Volckmann, R., Sluis, P. van, Wolf, S., Mikkelsen, T., Gajjar, A., Aldape, K., Moore, A.S., Taylor, M.D., Jones, C., et al., Sturm, D., Orr, B.A., Toprak, U.H., Hovestadt, V., Jones, D.T., Capper, D., Sill, M., Buchhalter, I., Northcott, P.A., Leis, I., Ryzhova, M., Koelsche, C., Pfaff, E., Allen, S.J., Balasubramanian, G., Worst, B.C., Pajtler, K.W., Brabetz, S., Johann, P.D., Sahm, F., Reimand, J., Mackay, A., Carvalho, D.M., Remke, M., Phillips, J.J., Perry, A., Cowdrey, C., Drissi, R., Fouladi, M., Giangaspero, F., Lastowska, M., Grajkowska, W., Scheurlen, W., Pietsch, T., Hagel, C., Gojo, J., Lotsch, D., Berger, W., Slavc, I., Haberler, C., Jouvet, A., Holm, S., Hofer, S., Prinz, M., Keohane, C., Fried, I., Mawrin, C., Scheie, D., Mobley, B.C., Schniederjan, M.J., Santi, M., Buccoliero, A.M., Dahiya, S., Kramm, C.M., Bueren, A.O. von, Hoff, K. von, Rutkowski, S., Herold-Mende, C., Fruhwald, M.C., Milde, T., Hasselblatt, M., Wesseling, P., Rossler, J., Schuller, U., Ebinger, M., Schittenhelm, J., Frank, S., Grobholz, R., Vajtai, I., Hans, V., Schneppenheim, R., Zitterbart, K., Collins, V.P., Aronica, E., Varlet, P., Puget, S., Dufour, C., Grill, J., Figarella-Branger, D., Wolter, M., Schuhmann, M.U., Shalaby, T., Grotzer, M., Meter, T. van, Monoranu, C.M., Felsberg, J., Reifenberger, G., Snuderl, M., Forrester, L.A., Koster, J., Versteeg, R., Volckmann, R., Sluis, P. van, Wolf, S., Mikkelsen, T., Gajjar, A., Aldape, K., Moore, A.S., Taylor, M.D., Jones, C., and et al.

Abstract

Item does not contain fulltext, Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly aggressive, poorly differentiated embryonal tumors occurring predominantly in young children but also affecting adolescents and adults. Herein, we demonstrate that a significant proportion of institutionally diagnosed CNS-PNETs display molecular profiles indistinguishable from those of various other well-defined CNS tumor entities, facilitating diagnosis and appropriate therapy for patients with these tumors. From the remaining fraction of CNS-PNETs, we identify four new CNS tumor entities, each associated with a recurrent genetic alteration and distinct histopathological and clinical features. These new molecular entities, designated "CNS neuroblastoma with FOXR2 activation (CNS NB-FOXR2)," "CNS Ewing sarcoma family tumor with CIC alteration (CNS EFT-CIC)," "CNS high-grade neuroepithelial tumor with MN1 alteration (CNS HGNET-MN1)," and "CNS high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)," will enable meaningful clinical trials and the development of therapeutic strategies for patients affected by poorly differentiated CNS tumors.

Published
2016

7. Good interobserver and intraobserver agreement in the evaluation of the new ILAE classification of focal cortical dysplasias

Author

Coras, R., de Boer, O.J., Armstrong, D., Becker, A., Jacques, T.S., Miyata, H., Thom, M, Vinters, H.V., Spreafico, R., Oz, B., Marucci, G., Pimentel, J., Muhlebner, A., Zamecnik, J., Buccoliero, A.M., Rogerio, F., Streichenberger, N., Arai, N., Bugiani, M., Vogelgesang, S., Macaulay, R., Salon, C., Hans, V., Polivka, M., Giangaspero, F., Fauziah, D., Kim, J.H., Liu, L., Dandan, W., Gao, J., Lindeboom, B., Blumcke, I., Aronica, E., Amsterdam Cardiovascular Sciences, Pathology, Other departments, Amsterdam Neuroscience, Amsterdam Public Health, Neurology, and NCA - Childhood White Matter Diseases

Subjects
Cerebral Cortex, Male, Observer Variation, neuropathology, brain, epilepsy, reproducibility, classification, agreement, Malformations of Cortical Development, Child, Preschool, Humans, Female, Epilepsies, Partial, Child, Coloring Agents
Abstract

Purpose: An International League Against Epilepsy (ILAE) consensus classification system for focal cortical dysplasias (FCDs) has been published in 2011 specifying clinicopathologic FCD variants. The aim of the present work was to microscopically assess interobserver agreement and intraobserver reproducibility for FCD categories among an international group of neuropathologists with different levels of experience and access to epilepsy surgery tissue. Methods: Surgical FCD specimens covering a broad histopathology spectrum were retrieved from 22 patients with epilepsy. Three surgical nonepilepsy specimens served as controls. A total of 188 slides with routine or immunohistochemical stainings were digitalized with a slide scanner to allow Internet-based microscopy review. Nine experienced neuropathologists were invited to review these cases twice at a time gap of 3 months and different orders of case presentation. The 2011 ILAE FCD consensus classification served as instruction. Kappa analysis was calculated to estimate interobserver and intraobserver agreement levels. In a third evaluation round, 21 additional neuropathologists with different experience and access to epilepsy surgery reviewed the same case series. Key Findings: Interobserver agreement was good (kappa = 0.6360), with 84% consensus of diagnoses during the first evaluation (21 of 25 cases). Kappa values increased to 0.6532 after reevaluation, and consensus was obtained in 24 (96%) of 25 cases. Overall intraobserver reproducibility was also good (kappa = 0.7824, ranging from 0.4991 to 1.000). Fewest changes in the classification were made in the FCD type II group (2.2% of 225 original diagnoses), whereas the majority of changes occurred in FCD type III (13.7% of 225 original diagnoses). In the third evaluation round, interobserver agreement was reflected by the level of experience of each neuropathologist, with kappa values ranging from moderate (0.5056; high level of experience >40 cases/year) to low (0.3265; low level of experience

Published
2012

11. O6- Methylguanine-DNA-Methyltransferase in Recurring Anaplastic Ependymomas: PCR and Immunohistochemistry

Author

Buccoliero, A.M., primary, Castiglione, F., additional, Rossi Degl'innocenti, D., additional, Paglierani, M., additional, Maio, V., additional, Gheri, C.F., additional, Garbini, F., additional, Moncini, D., additional, Taddei, A., additional, Sardi, I., additional, Sanzo, M., additional, Giordano, F., additional, Mussa, F., additional, Genitori, L., additional, and Taddei, G.L., additional

Published
2008
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14. MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism

Author

Stéphanie Puget, Mariarita Santi, Daniel C. Bowers, Cynthia Hawkins, Rosemary E. Henn, Laura M. Urbanski, Jeremiah Wala, Mélanie Pagès, Azra H. Ligon, Anna Maria Buccoliero, Peleg M. Horowitz, Phillip B. Storm, Mirko Scagnet, Liliana Goumnerova, Matthew D. Ducar, Kristine Pelton, Pascale Varlet, Uri Tabori, Sabine Mueller, Pratiti Bandopadhayay, Yun Jee Kang, Rameen Beroukhim, Joanna J. Phillips, Adam C. Resnick, Payal Jain, Brenton R. Paolella, László Bognár, Mark W. Kieran, David S. Knoff, Yuankun Zhu, Rhamy Zeid, Shakti Ramkissoon, Charles G. Eberhart, Hayley Malkin, Adam Tracy, Katie Boucher, Amanda Silva, Lori A. Ramkissoon, Adrianne Gladden-Young, Keith L. Ligon, Nada Jabado, Jacques Grill, Daphne A. Haas-Kogan, Sandro Santagata, James E. Bradner, Charles D. Stiles, Alexander J. Federation, Harry J. Han, Almos Klekner, Angela J. Waanders, Sara Seepo, Ryan O’Rourke, Paul Van Hummelen, Namrata Choudhari, D. Ashley Hill, Fausto J. Rodriguez, Caterina Giannini, William J. Gibson, Alon Goren, Peter C. Burger, Guillaume Bergthold, Steven E. Schumacher, Bandopadhayay P., Ramkissoon L.A., Jain P., Bergthold G., Wala J., Zeid R., Schumacher S.E., Urbanski L., O'Rourke R., Gibson W.J., Pelton K., Ramkissoon S.H., Han H.J., Zhu Y., Choudhari N., Silva A., Boucher K., Henn R.E., Kang Y.J., Knoff D., Paolella B.R., Gladden-Young A., Varlet P., Pages M., Horowitz P.M., Federation A., Malkin H., Tracy A.A., Seepo S., Ducar M., Van Hummelen P., Santi M., Buccoliero A.M., Scagnet M., Bowers D.C., Giannini C., Puget S., Hawkins C., Tabori U., Klekner A., Bognar L., Burger P.C., Eberhart C., Rodriguez F.J., Hill D.A., Mueller S., Haas-Kogan D.A., Phillips J.J., Santagata S., Stiles C.D., Bradner J.E., Jabado N., Goren A., Grill J., Ligon A.H., Goumnerova L., Waanders A.J., Storm P.B., Kieran M.W., Ligon K.L., Beroukhim R., and Resnick A.C.

Subjects
0301 basic medicine, Oncogene Proteins, Fusion, Carcinogenesis, Angiocentric Glioma, Biology, medicine.disease_cause, Article, Oncogene Proteins v-myb, 03 medical and health sciences, Glioma, Cell Line, Tumor, Genetics, medicine, Humans, MYB, Exome, Epigenetics, Child, Carcinogenesi, Gene Rearrangement, Mutation, Comparative Genomic Hybridization, High-Throughput Nucleotide Sequencing, RNA-Binding Proteins, Gene rearrangement, medicine.disease, Gene Expression Regulation, Neoplastic, 030104 developmental biology, Cancer research, Human
Abstract

Angiocentric gliomas are pediatric low-grade gliomas (PLGGs) without known recurrent genetic drivers. We performed genomic analysis of new and published data from 249 PLGGs, including 19 angiocentric gliomas. We identified MYB-QKI fusions as a specific and single candidate driver event in angiocentric gliomas. In vitro and in vivo functional studies show that MYB-QKI rearrangements promote tumorigenesis through three mechanisms: MYB activation by truncation, enhancer translocation driving aberrant MYB-QKI expression and hemizygous loss of the tumor suppressor QKI. To our knowledge, this represents the first example of a single driver rearrangement simultaneously transforming cells via three genetic and epigenetic mechanisms in a tumor.

Published
2016

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