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6. Onkologie

Author

Henze, G., Klingebiel, T., Rutkowski, S., Schlegel, P.-G., Speer, Christian P., editor, Gahr, Manfred, editor, and Dötsch, Jörg, editor

Published
2019
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7. Virtual Reality Rehabilitation in Patients with Chronic Obstructive Pulmonary Disease: A Randomized Controlled Trial

Author

Rutkowski S, Rutkowska A, Kiper P, Jastrzebski D, Racheniuk H, Turolla A, Szczegielniak J, and Casaburi R

Subjects
virtual reality, copd, pulmonary rehabilitation, physical activity, exercise, Diseases of the respiratory system, RC705-779
Abstract

Sebastian Rutkowski, 1 Anna Rutkowska, 1 Paweł Kiper, 2 Dariusz Jastrzebski, 3 Henryk Racheniuk, 1 Andrea Turolla, 2 Jan Szczegielniak, 1 Richard Casaburi 4 1Institute of Physiotherapy, Department of Physical Education and Physiotherapy, Opole University of Technology, Opole, Poland; 2Laboratory of Neurorehabilitation Technologies, Fondazione Ospedale San Camillo IRCCS, Venice, Italy; 3School of Medicine with the Division of Dentistry, Department of Lung Diseases and Tuberculosis, Medical University of Silesia, Zabrze, Poland; 4Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USACorrespondence: Sebastian RutkowskiInstitute of Physiotherapy, Department of Physical Education and Physiotherapy, Opole University of Technology, Opole, PolandTel +48 507027792Fax +48 77 449 80 00Email s.rutkowski@po.opole.plPurpose: This study compared the effects of inpatient-based rehabilitation program of patients with chronic obstructive pulmonary disease (COPD) using non-immersive virtual reality (VR) training with a traditional pulmonary rehabilitation program. The aims of this study were to determine 1) whether rehabilitation featuring both VR as well as exercise training provides benefits over exercise training (ET) alone and 2) whether rehabilitation featuring VR training instead of exercise training provides equivalent benefits.Patients and Methods: The study recruited 106 patients with COPD to a 2-week high-intensity, five times a week intervention. Randomized into three groups, 34 patients participated in a traditional pulmonary rehabilitation program including endurance exercise training (ET), 38 patients participated in traditional pulmonary rehabilitation, including both endurance exercise training and virtual reality training (ET+VR) and 34 patients participated in pulmonary rehabilitation program including virtual reality training but no endurance exercise training (VR). The traditional pulmonary rehabilitation program consisted of fitness exercises, resistance respiratory muscle and relaxation training. Xbox 360® and Kinect® Adventures software were used for the VR training of lower and upper body strength, endurance, trunk control and dynamic balance. Comparison of the changes in the Senior Fitness Test was the primary outcome. Analysis was performed using linear mixed-effects models.Results: The comparison between ET and ET+VR groups showed that ET+VR group was superior to ET group in Arm Curl (p< 0.003), Chair stand (p< 0.008), Back scratch (p< 0.002), Chair sit and reach (p< 0.001), Up and go (p< 0.000), 6-min walk test (p< 0.011). Whereas, the comparison between ET and VR groups showed that VR group was superior to ET group in Arm Curl (p< 0.000), Chair stand (p< 0.001), 6-min walk test (p< 0.031).Conclusion: Results suggest that pulmonary rehabilitation program supplemented with VR training is beneficial intervention to improve physical fitness in patients with COPD.Keywords: virtual reality, COPD, pulmonary rehabilitation, physical activity, exercise

Published
2020

8. ZNS-Tumoren

Author

Fleischhack, G., Rutkowski, S., Pfister, S., Pietsch, T., Tippelt, S., Warmuth-Metz, M., Bison, B., van Velthoven-Wurster, V., Messing-Jünger, M., Kortmann, R.-D., Timmermann, B., Slavc, I., Witt, O., Gnekow, A. K., Hernáiz Driever, P., Kramm, C., Benesch, M., Frühwald, M. C., Hasselblatt, M., Müller, H. L., Sörensen, N., Kordes, U. R., Calaminus, G., Niemeyer, Charlotte, editor, and Eggert, Angelika, editor

Published
2018
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10. Geographical variability in survival of European children with central nervous system tumours

Author

Hackl, M., Zielonke, N., Oberaigner, W., Van Eycken, E., Henau, K., Valerianova, Z., Dimitrova, N., Sekerija, M., Storm, H., Engholm, G., Mägi, M., Aareleid, T., Malila, N., Seppä, K., Faivre, J., Bossard, N., Uhry, Z., Colonna, M., Clavel, J., Lacour, B., Desandes, E., Brenner, H., Kaatsch, P., Katalinic, A., Garami, M., Jakab, Z., Comber, H., Mazzoleni, G., Bulatko, A., Buzzoni, C., Giacomin, A., Sutera Sardo, A., Mancuso, P., Ferretti, S., Barchielli, A., Caldarella, A., Gatta, G., Sant, M., Amash, H., Amati, C., Baili, P., Berrino, F., Bonfarnuzzo, S., Botta, L., Capocaccia, R., Di Salvo, F., Foschi, R., Margutti, C., Meneghini, E., Minicozzi, P., Trama, A., Serraino, D., Zucchetto, A., De Angelis, R., Caldora, M., Carrani, E., Francisci, S., Mallone, S., Pierannunzio, D., Roazzi, P., Rossi, S., Santaquilani, M., Tavilla, A., Pannozzo, F., Busco, S., Filiberti, R.A., Marani, E., Ricci, P., Pascucci, C., Autelitano, M., Spagnoli, G., Cirilli, C., Fusco, M., Vitale, M.F., Usala, M., Vitale, F., Ravazzolo, B., Michiara, M., Merletti, F., Maule, M., Tumino, R., Mangone, L., Di Felice, E., Falcini, F., Iannelli, A., Sechi, O., Cesaraccio, R., Piffer, S., Madeddu, A., Tisano, F., Maspero, S., Fanetti, A.C., Candela, P., Scuderi, T., Stracci, F., Bianconi, F., Tagliabue, G., Contiero, P., Rugge, M., Guzzinati, S., Pildava, S., Smailyte, G., Calleja, N., Agius, D., Johannesen, T.B., Rachtan, J., Góźdź, S., Mężyk, R., Błaszczyk, J., Bębenek, M., Bielska-Lasota, M., Forjaz de Lacerda, G., Bento, M.J., Castro, C., Miranda, A., Mayer-da-Silva, A., Safaei Diba, C., Primic-Zakelj, M., Errezola, M., Bidaurrazaga, J., Vicente Raneda, M., Díaz García, J.M., Marcos-Navarro, A.I., Marcos-Gragera, R., Izquierdo Font, A., Sanchez, M.J., Chang, D.Y.L., Navarro, C., Chirlaque, M.D., Moreno-Iribas, C., Ardanaz, E., Peris-Bonet, R., Pardo Romaguera, E., Galceran, J., Carulla, M., Lambe, M., Mousavi, M., Bouchardy, C., Usel, M., Ess, S.M., Frick, H., Lorez, M., Herrmann, C., Bordoni, A., Spitale, A., Konzelmann, I., Visser, O., Aarts, M., Otter, R., Coleman, M., Allemani, C., Rachet, B., Verne, J., Stiller, C., Gavin, A., Donnelly, C., Brewster, D.H., Sánchez, M.-J., and Rutkowski, S.

Published
2017
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12. Comprehensive assessments and related interventions to enhance the long-term outcomes of child, adolescent and young adult cancer survivors – presentation of the CARE for CAYA-Program study protocol and associated literature review

Author

Salchow, J., Mann, J., Koch, B., von Grundherr, J., Jensen, W., Elmers, S., Straub, L. A., Vettorazzi, E., Escherich, G., Rutkowski, S., Dwinger, S., Bergelt, C., Sokalska-Duhme, M., Bielack, S., Calaminus, G., Baust, K., Classen, C. F., Rössig, C., Faber, J., Faller, H., Hilgendorf, I., Gebauer, J., Langer, T., Metzler, M., Schuster, S., Niemeyer, C., Puzik, A., Reinhardt, D., Dirksen, U., Sander, A., Köhler, M., Habermann, J. K., Bokemeyer, C., and Stein, A.

Published
2020
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13. Cycling in Immersive VR: Motivation and Affects in Post-COVID Patients

Author

Mondellini, Marta, Rutkowski, S., Colombo, V., Mondellini M. (ORCID:0000-0002-9578-4586), Mondellini, Marta, Rutkowski, S., Colombo, V., and Mondellini M. (ORCID:0000-0002-9578-4586)

Abstract

The present work reports preliminary results in a group of post-COVID patients participating in a pulmonary rehabilitation program with an Immersive Virtual Reality system. 22 participants performed endurance training for 3 weeks, cycling in an Immersive Virtual Park while wearing a Head-Mounted Display. Motivation, positive and negative emotions, and flow status are assessed at the beginning (t0) and end (t1) of the rehabilitation program. All the variables related to motivation (Intrinsic Motivation, Identified Regulation, and External Regulation) obtain higher average scores after the rehabilitation program (respectively, p = 0.003, p = 0.006, p = 0.015), showing that the experience is perceived as fun, motivating, and as a choice and not an obligation. Similarly, the flow state increases with the experience (p = 0.024). At the same time, amotivation decreases during the 3 weeks of treatment (p < 0.001). During the PR program, no difference emerges between positive and negative affects, but positive affects are reported more often than negative ones. These preliminary results suggest that training with the Immersive Virtual Park is perceived as a highly positive experience and can support the patient’s motivation for long-term rehabilitation.

Published
2023

14. Das CARE-for-CAYA-Programm: Präventionskonzept für junge Menschen nach Krebserkrankung

Author

Quidde, J., Koch, B., Salchow, J., Jensen, W., von Grundherr, J., Escherich, G., Rutkowski, S., Schulz-Kindermann, F., Bergelt, C., Bokemeyer, C., Sokalska-Duhme, M., Bielack, S., Calaminus, G., Classen, C. F., Rössig, C., Faber, J., Faller, H., Hilgendorf, I., Langer, T., Metzler, M., Schuster, S., Niemeyer, C., Pierce, A., Reinhardt, D., Sander, A., Köhler, M., and Stein, A.

Published
2017
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15. Hirntumoren

Author

Rutkowski, S., Schlegel, P.-G., Speer, Christian P., editor, and Gahr, Manfred, editor

Published
2013
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16. Radiotherapy Quality Assurance in SIOP Ependymoma II – Experiences from Germany, Austria and Switzerland

Author

Merta, J., primary, Jakob, K., additional, Lin, Y.L., additional, Kramer, P.H., additional, Plaude, S., additional, Behrends, C., additional, Stickan-Verfürth, M., additional, Geismar, D., additional, Mynarek, M., additional, Dietzsch, S., additional, Kortmann, R.D., additional, Benesch, M., additional, Gerber, N., additional, Rutkowski, S., additional, and Timmermann, B., additional

Published
2022
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19. Hirntumoren

Author

Wolff, J. E. A., Rutkowski, S., Kühl, J., Kortmann, R. D., Schmoll, Hans-Joachim, editor, Höffken, Klaus, editor, and Possinger, Kurt, editor

Published
2006
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20. Hirntumoren

Author

Kühl, J., Rutkowski, S., Schlegel, P.-G., Speer, Christian P., and Gahr, Manfred

Published
2005
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21. JS04.4.A Beyond β-catenin: Genetic alterations ofTP53 andOTX2 and older age indicate increased risk of relapse in WNT medulloblastomas

Author

Goschzik, T, primary, Mynarek, M, additional, Doerner, E, additional, Spier, I, additional, Warmuth-Metz, M, additional, Bison, B, additional, Obrecht, D, additional, Struve, N, additional, Kortmann, R, additional, Hau, P, additional, Aretz, S, additional, Rutkowski, S, additional, and Pietsch, T, additional

Published
2022
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30. Colorectal responses to distension and feeding in patients with spinal cord injury

Author

Suttor, V.P., Ng, C., Rutkowski, S., Hansen, R.D., Kellow, J.E., and Malcolm, A.

Subjects
Colorectal diseases -- Risk factors, Colorectal diseases -- Care and treatment, Colorectal diseases -- Research, Spinal cord injuries -- Complications and side effects, Neural transmission -- Physiological aspects, Neural transmission -- Research, Biological sciences
Abstract

The role of the central nervous system in enteroenteric motor reflexes remains controversial. Our aims were as follows: 1) to evaluate colorectal, rectocolic, gastrocolonic, and gastrorectal reflex responses in patients with cervical spinal cord injury (SCI) and 2) to compare these responses with those in healthy subjects. In six patients with SCI (5 male, 42 [+ or -] 4 yr) and six healthy control subjects (5 male, 36 [+ or -] 5 yr), 2-min phasic distensions were performed randomly via dual-barostat balloons in the colon and rectum. Continuous colonic and rectal balloon volumes were recorded during distensions and after a 1,000-kcal liquid meal. Mean balloon volumes were recorded before, during, and after phasic distensions and over 60 min postprandially. The colorectal response was similar in control subjects and SCI patients (rectal volume reduction = 28 [+ or -] 11% and 15 [+ or -] 5% in SCI patients and healthy subjects, respectively); the rectocolic response was variable. The gastrocolonic response was present in all subjects (colonic volume reduction = 49 [+ or -] 4% and 44 [+ or -] 3% in SCI patients and healthy subjects, respectively), with a time effect in the first 30 min (P < 0.0001) and a group effect in the second 30 rain (P < 0.004). The gastrorectal response was present in four SCI patients and five healthy subjects (rectal volume reduction = 38 [+ or -] 4% and 41 [+ or -] 3% in SCI patients and healthy subjects, respectively), with a time effect in the first 30 min (P < 0.0001) but no group effect in the second 30 min. Intact neural transmission between the spinal cord and higher centers is not essential for normal colorectal motor responses to feeding and distension; however, a degree of central nervous system and neurobormonal modulation of these responses is likely. gastrocolonic; gastrorectal; rectocolic; colon; spinal injury

Published
2009

33. Follow-up evaluation of a web-based pediatric brain tumor board in Latin America

Author

Rosabal-Obando M, Osorio DS, Lassaletta A, Morales-La Madrid A, Bartels U, Finlay JL, Qaddoumi I, Rutkowski S, and Mynarek M

Subjects
virtual tumor boards, tele-oncology, childhood brain tumors, low- and middle-income countries, high-income countries, neuro-oncology, outreach
Abstract

BACKGROUND: Since 2013, pediatric oncologists from Central and South America discuss neuro-oncology cases with experts from North America and Europe in a web-based "Latin American Tumor Board" (LATB). Here, we evaluate the feasibility of recommendations rendered by the Board. METHODS: An electronic questionnaire was distributed to physicians who had received recommendations between October 2017 and October 2018. Physicians were asked regarding the feasibility of each recommendation given during the LATB discussion. Baseline case characteristics of all presented cases were obtained from anonymized minutes. RESULTS: Of the 142 patients discussed, data on 103 patients from 15 countries were available, corresponding to 283 recommendations. Physicians followed 60% of diagnostic procedural recommendations and 69% of therapeutic recommendations. The most difficult recommendations to follow were genetic and molecular testing, pathology review, chemotherapy, surgery, and molecular targeted therapies. Histological diagnoses changed in eight of 18 cases in which a pathology review was undertaken. Fifty-four percent of the recommendations that could not be implemented were considered not feasible in the specific context of the patient, while 31% were not implemented due to a decision of the medical staff or the parents (15% not specified). However, 96% of respondents considered the recommendations useful. CONCLUSION: Recommendations were frequently perceived as useful, and were applicable in the participating institutions. Nevertheless, limitations in availability of diagnostic procedures and treatment modalities affected the feasibility of some recommendations. Tele-oncology tumor boards offer physicians from low- and middle-income countries access to real-time, high-level subspecialist expertise and provide a valuable platform for worldwide information exchange.

Published
2021

36. Clinical Outcomes and Patient-Matched Molecular Composition of Relapsed Medulloblastoma

Author

Kumar, R, Smith, KS, Deng, M, Terhune, C, Robinson, GW, Orr, BA, Liu, APY, Lin, T, Billups, CA, Chintagumpala, M, Bowers, DC, Hassall, TE, Hansford, JR, Khuong-Quang, DA, Crawford, JR, Bendel, AE, Gururangan, S, Schroeder, K, Bouffet, E, Bartels, U, Fisher, MJ, Cohn, R, Partap, S, Kellie, SJ, McCowage, G, Paulino, AC, Rutkowski, S, Fleischhack, G, Dhall, G, Klesse, LJ, Leary, S, Nazarian, J, Kool, M, Wesseling, P, Ryzhova, M, Zheludkova, O, Golanov, A, McLendon, RE, Packer, RJ, Dunham, C, Hukin, J, Fouladi, M, Faria, CC, Pimentel, J, Walter, AW, Jabado, N, Cho, Y-J, Perreault, S, Croul, SE, Zapotocky, M, Hawkins, C, Tabori, U, Taylor, MD, Pfister, SM, Klimo, P, Boop, FA, Ellison, DW, Merchant, TE, Onar-Thomas, A, Korshunov, A, Jones, DTW, Gajjar, A, Ramaswamy, V, Northcott, PA, Kumar, R, Smith, KS, Deng, M, Terhune, C, Robinson, GW, Orr, BA, Liu, APY, Lin, T, Billups, CA, Chintagumpala, M, Bowers, DC, Hassall, TE, Hansford, JR, Khuong-Quang, DA, Crawford, JR, Bendel, AE, Gururangan, S, Schroeder, K, Bouffet, E, Bartels, U, Fisher, MJ, Cohn, R, Partap, S, Kellie, SJ, McCowage, G, Paulino, AC, Rutkowski, S, Fleischhack, G, Dhall, G, Klesse, LJ, Leary, S, Nazarian, J, Kool, M, Wesseling, P, Ryzhova, M, Zheludkova, O, Golanov, A, McLendon, RE, Packer, RJ, Dunham, C, Hukin, J, Fouladi, M, Faria, CC, Pimentel, J, Walter, AW, Jabado, N, Cho, Y-J, Perreault, S, Croul, SE, Zapotocky, M, Hawkins, C, Tabori, U, Taylor, MD, Pfister, SM, Klimo, P, Boop, FA, Ellison, DW, Merchant, TE, Onar-Thomas, A, Korshunov, A, Jones, DTW, Gajjar, A, Ramaswamy, V, and Northcott, PA

Abstract

PURPOSE: We sought to investigate clinical outcomes of relapsed medulloblastoma and to compare molecular features between patient-matched diagnostic and relapsed tumors. METHODS: Children and infants enrolled on either SJMB03 (NCT00085202) or SJYC07 (NCT00602667) trials who experienced medulloblastoma relapse were analyzed for clinical outcomes, including anatomic and temporal patterns of relapse and postrelapse survival. A largely independent, paired molecular cohort was analyzed by DNA methylation array and next-generation sequencing. RESULTS: A total of 72 of 329 (22%) SJMB03 and 52 of 79 (66%) SJYC07 patients experienced relapse with significant representation of Group 3 and wingless tumors. Although most patients exhibited some distal disease (79%), 38% of patients with sonic hedgehog tumors experienced isolated local relapse. Time to relapse and postrelapse survival varied by molecular subgroup with longer latencies for patients with Group 4 tumors. Postrelapse radiation therapy among previously nonirradiated SJYC07 patients was associated with long-term survival. Reirradiation was only temporizing for SJMB03 patients. Among 127 patients with patient-matched tumor pairs, 9 (7%) experienced subsequent nonmedulloblastoma CNS malignancies. Subgroup (96%) and subtype (80%) stabilities were largely maintained among the remainder. Rare subgroup divergence was observed from Group 4 to Group 3 tumors, which is coincident with genetic alterations involving MYC, MYCN, and FBXW7. Subgroup-specific patterns of alteration were identified for driver genes and chromosome arms. CONCLUSION: Clinical behavior of relapsed medulloblastoma must be contextualized in terms of up-front therapies and molecular classifications. Group 4 tumors exhibit slower biological progression. Utility of radiation at relapse is dependent on patient age and prior treatments. Degree and patterns of molecular conservation at relapse vary by subgroup. Relapse tissue enables verification of molecular ta

Published
2021

37. Sarcoma classification by DNA methylation profiling

Author

Koelsche, C, Schrimpf, D, Stichel, D, Sill, M, Sahm, F, Reuss, DE, Blattner, M, Worst, B, Heilig, CE, Beck, K, Horak, P, Kreutzfeldt, S, Paff, E, Stark, S, Johann, P, Selt, F, Ecker, J, Sturm, D, Pajtler, K W, Reinhardt, A, Wefers, AK, Sievers, P, Ebrahimi, A, Suwala, A, Fernandez-Klett, F, Casalini, B, Korshunov, A, Hovestadt, V, Kommoss, FKF, Kriegsmann, M, Schick, M, Bewerunge-Hudler, M, Milde, T, Witt, O, Kulozik, AE, Kool, M, Romero-Perez, L, Grunewald, TGP, Kirchner, T, Wick, W, Platten, M, Unterberg, A, Uhl, M, Abdollahi, A, Debus, J, Lehner, B, Thomas, C, Hasselblatt, M, Paulus, W, Hartmann, C, Staszewski, O, Prinz, M, Hench, J, Frank, S, Versleijen-Jonkers, YMH, Weidema, ME, Mentzel, T, Griewank, K, Alava, E, Martin, JD, Gastearena, MAI, Chang, KTE, Low, SYY, Cuevas-Bourdier, A, Mittelbronn, M, Mynarek, M, Rutkowski, S, Schuller, U, Mautner, VF, Schittenhelm, J, Serrano, J, Snuderl, M, Buttner, R, Klingebiel, T, Buslei, R, Gessler, M, Wesseling, P, Dinjens, Winand, Brandner, S, Jaunmuktane, Z, Lyskjaer, I, Schirmacher, P, Stenzinger, A, Brors, B, Glimm, H, Heining, C, Tirado, OM, Sainz-Jaspeado, M, Mora, J, Alonso, J, del Muro, XG, Moran, S, Esteller, M, Benhamida, JK, Ladanyi, M, Wardelmann, E, Antonescu, C, Flanagan, A, Dirksen, U, Hohenberger, P, Baumhoer, D, Hartmann, W, Vokuhl, C, Flucke, U, Petersen, I, Mechtersheimer, G, Capper, D, Jones, DT, Frohling, S, Pfister, SM, von Deimling, A, Koelsche, C, Schrimpf, D, Stichel, D, Sill, M, Sahm, F, Reuss, DE, Blattner, M, Worst, B, Heilig, CE, Beck, K, Horak, P, Kreutzfeldt, S, Paff, E, Stark, S, Johann, P, Selt, F, Ecker, J, Sturm, D, Pajtler, K W, Reinhardt, A, Wefers, AK, Sievers, P, Ebrahimi, A, Suwala, A, Fernandez-Klett, F, Casalini, B, Korshunov, A, Hovestadt, V, Kommoss, FKF, Kriegsmann, M, Schick, M, Bewerunge-Hudler, M, Milde, T, Witt, O, Kulozik, AE, Kool, M, Romero-Perez, L, Grunewald, TGP, Kirchner, T, Wick, W, Platten, M, Unterberg, A, Uhl, M, Abdollahi, A, Debus, J, Lehner, B, Thomas, C, Hasselblatt, M, Paulus, W, Hartmann, C, Staszewski, O, Prinz, M, Hench, J, Frank, S, Versleijen-Jonkers, YMH, Weidema, ME, Mentzel, T, Griewank, K, Alava, E, Martin, JD, Gastearena, MAI, Chang, KTE, Low, SYY, Cuevas-Bourdier, A, Mittelbronn, M, Mynarek, M, Rutkowski, S, Schuller, U, Mautner, VF, Schittenhelm, J, Serrano, J, Snuderl, M, Buttner, R, Klingebiel, T, Buslei, R, Gessler, M, Wesseling, P, Dinjens, Winand, Brandner, S, Jaunmuktane, Z, Lyskjaer, I, Schirmacher, P, Stenzinger, A, Brors, B, Glimm, H, Heining, C, Tirado, OM, Sainz-Jaspeado, M, Mora, J, Alonso, J, del Muro, XG, Moran, S, Esteller, M, Benhamida, JK, Ladanyi, M, Wardelmann, E, Antonescu, C, Flanagan, A, Dirksen, U, Hohenberger, P, Baumhoer, D, Hartmann, W, Vokuhl, C, Flucke, U, Petersen, I, Mechtersheimer, G, Capper, D, Jones, DT, Frohling, S, Pfister, SM, and von Deimling, A

Abstract

Sarcomas are malignant soft tissue and bone tumours affecting adults, adolescents and children. They represent a morphologically heterogeneous class of tumours and some entities lack defining histopathological features. Therefore, the diagnosis of sarcomas is burdened with a high inter-observer variability and misclassification rate. Here, we demonstrate classification of soft tissue and bone tumours using a machine learning classifier algorithm based on array-generated DNA methylation data. This sarcoma classifier is trained using a dataset of 1077 methylation profiles from comprehensively pre-characterized cases comprising 62 tumour methylation classes constituting a broad range of soft tissue and bone sarcoma subtypes across the entire age spectrum. The performance is validated in a cohort of 428 sarcomatous tumours, of which 322 cases were classified by the sarcoma classifier. Our results demonstrate the potential of the DNA methylation-based sarcoma classification for research and future diagnostic applications.

Published
2021

45. Treatment response of CNS high-grade neuroepithelial tumors with MN1 alteration

Author

Baroni LV, Rugilo C, Lubieniecki F, Sampor C, Freytes C, Nobre L, Hansford JR, Malalasekera VS, Zapotocky M, Dodgshun A, Martinez OC, Morales-La Madrid A, Lavarino C, Suñol M, Rutkowski S, Schuller U, Bouffet E, Ramaswamy V, and Alderete D

Subjects
neuroepithelial tumor, astroblastoma, CNS HGNET-MN1, MN1, ependymoma
Abstract

Central nervous system high-grade neuroepithelial tumor with MN1 alteration (CNS HGNET-MN1) is a rare recently described entity. Fourteen CNS HGNET-MN1 patients were identified using genome-wide methylation arrays/RT-PCR across seven institutions. All patients had surgery (gross total resection: 10; subtotal resection: four) as initial management followed by observation alone in three patients, followed by radiotherapy in eight patients (focal: five; craniospinal: two; CyberKnife: one) and systemic chemotherapy in three patients. Seven patients relapsed; five local and two metastatic, despite adjuvant radiotherapy, of which three died. Treatment of CNS HGNET-MN1 remains a major treatment challenge despite aggressive surgical resections and upfront radiotherapy, warranting new approaches to this rare malignancy.

Published
2020

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