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1. Assessing we-disease appraisals of health problems: development and validation of the we-disease questionnaire

Author

Vogt, Alexandra J., Bartels, Lasse, Bertsch, Isabella C., Mahler, Fiona, Grotzer, Michael, Konrad, Daniel, Leibundgut, Kurt, Rössler, Jochen, Bodenmann, Guy, Landolt, Markus A., Vogt, Alexandra J., Bartels, Lasse, Bertsch, Isabella C., Mahler, Fiona, Grotzer, Michael, Konrad, Daniel, Leibundgut, Kurt, Rössler, Jochen, Bodenmann, Guy, and Landolt, Markus A.

Abstract

In couples dealing with health problems, we-disease appraisals can influence dyadic coping strategies to alleviate distress. This study describes the development and validation of a self-report scale to assess we-disease appraisals of health problems. The newly developed We-Disease Questionnaire (WDQ) was administered in three samples: parents of children with type 1 diabetes (n = 240) or cancer (n = 125) and individuals with visual impairment and their partners (n = 216). Reliability was measured by coefficient omega. To assess construct validity, correlations with other measures of individual and dyadic adjustment were examined. Descriptive statistics across all samples were compared. A 4-item version of the WDQ demonstrated good reliability and validity and showed meaningful associations with established scales. We-disease appraisals were highest among parents of children with cancer and lowest among couples with visual impairment. The WDQ is a reliable and valid measure that can be used across different health problems.

Published
2024

2. Posttraumatic stress symptoms in parents of children with newly diagnosed cancer: 1-year trajectories and relationship variables as predictors

Author

Vogt, Alexandra J; https://orcid.org/0000-0003-4703-7655, Bartels, Lasse; https://orcid.org/0000-0001-6843-7207, Grotzer, Michael; https://orcid.org/0000-0002-1154-2732, Bodenmann, Guy; https://orcid.org/0000-0003-0964-6409, Leibundgut, Kurt, Rössler, Jochen; https://orcid.org/0000-0003-4022-4917, Landolt, Markus A; https://orcid.org/0000-0003-0760-5558, Vogt, Alexandra J; https://orcid.org/0000-0003-4703-7655, Bartels, Lasse; https://orcid.org/0000-0001-6843-7207, Grotzer, Michael; https://orcid.org/0000-0002-1154-2732, Bodenmann, Guy; https://orcid.org/0000-0003-0964-6409, Leibundgut, Kurt, Rössler, Jochen; https://orcid.org/0000-0003-4022-4917, and Landolt, Markus A; https://orcid.org/0000-0003-0760-5558

Abstract

Objective: The way in which parental posttraumatic stress symptoms (PTSS) unfold in the first year after a cancer diagnosis in their child is poorly understood. The aims of this study were to identify parental PTSS trajectories and to examine couple-related predictors (dyadic coping and we-disease appraisals), sociodemographic predictors (education and sex), and medical predictors (child’s physical impairment) of trajectory membership. Method: A 1-year prospective study was conducted, and 157 parents of children newly diagnosed with cancer were assessed. PTSS was measured with the Posttraumatic Diagnostic Scale for DSM-5 (PDS-5) at 3–6 weeks (T1), 6 months (T2), and 12 months (T3) after the diagnosis. The trajectories were identified with Latent Class Growth Analysis, the predictors were explored with binomial logistic regression. Results: Two distinct trajectories were found. The majority of parents (86.0%) followed a low PTSS trajectory, characterized by initially low scores that slightly decreased over 12 months. In contrast, 14.0% of parents displayed a stable, high PTSS trajectory. A high trajectory of child’s physical impairment and low scores in parental dyadic coping were significantly associated with the likelihood of a high parental PTSS trajectory. Conclusions: The findings provide new insights into the critical period of the first year after a child’s cancer diagnosis. While most parents display a resilient, low PTSS trajectory, a minority consistently experience high PTSS levels. Child’s physical impairment and dyadic coping should be considered as predictors for early identification of vulnerable parents. Incorporating dyadic coping in parental support following a childhood cancer diagnosis could be beneficial for parental mental health.

Published
2024

3. Characteristics and feedback of adult survivors of childhood cancer seen in Swiss comprehensive follow-up clinics led by general internists: a prospective cohort study

Author

Tinner, Eva Maria Eugenia, Oezcan, Oezcan, Boesing, Maria, Roser, Katharina, Michel, Gisela, Minder, Anna-Elisabeth, Maier, Sabrina, Bayha, Marinela, Affolter, Helene, Baumgartner, Christine, Meienberg, Fabian, Kuehni, Claudia, Rössler, Jochen, Wertli, Maria M, Leuppi, Jörg D, Tinner, Eva Maria Eugenia, Oezcan, Oezcan, Boesing, Maria, Roser, Katharina, Michel, Gisela, Minder, Anna-Elisabeth, Maier, Sabrina, Bayha, Marinela, Affolter, Helene, Baumgartner, Christine, Meienberg, Fabian, Kuehni, Claudia, Rössler, Jochen, Wertli, Maria M, and Leuppi, Jörg D

Abstract

Objectives In our study, we aimed to characterise adult childhood cancer survivors (ACCS), assess their health issues, gauge health-related quality of life (HRQOL) and evaluate visit satisfaction.Design Prospective cohort study using data from clinical visits and questionnaires.Setting Interdisciplinary follow-up programme for ACCS based on the long-term follow-up (LTFU) guidelines of the Children's Oncology Group and overseen by internists in two Swiss hospitals.Participants ACCS attending our LTFU clinics between April 2017 and January 2022 were eligible.Interventions We documented medical history, current health status and assessed HRQOL using Short Form-36 V.2, comparing it with Swiss general population (SGP) norms (T mean=50, SD=10; age stratified). 3 months post visit, a feedback questionnaire was distributed.Main results Among 102 ACCS (mean age: 32 years (range: 18–62 years), 68% women), 43 had no prior follow-up (36 ACCS>28 years, 7 ACCS≤28 years). A notable 94% had health issues, affecting an average of 6.1 (SD=3.3) organ systems. HRQOL was lower in ACCS>28 years than the SGP>28 years (physical: 44.8 (SD=11.65) vs 49.3 (SD=10.29), p=0.016; mental: 44.4 (SD=13.78) vs 50.53 (SD=9.92), p=0.004). Older ACCS (>28 years) reported inferior physical (44.8 vs 50.1 (SD=9.30), p=0.017) and mental HRQOL (44.4 vs 50.3 (SD=7.20), p=0.009) than younger ACCS. The majority of respondents reported high levels of satisfaction with the consultation, exceeding 90%.Conclusion ACCS attending LTFU clinics face diverse health issues impacting multiple organ systems and exhibit lower HRQOL compared with the SGP. Thus, internist-led LTFU clinics are crucial for optimising follow-up care.Data are available upon reasonable request. Data are available on reasonable request. Data can be made available to collaborating researchers on request and decision in the steering committee. The data are not publicly available due to containing information that could compromise the priv, + ID der Publikation: unilu_75339 + Sprache: Englisch + Letzte Aktualisierung: 2024-07-16 13:45:22

Published
2024

4. Assessing We-Disease Appraisals of Health Problems: Development and Validation of the We-Disease Questionnaire

Author

Vogt, Alexandra J; https://orcid.org/0000-0003-4703-7655, Bartels, Lasse; https://orcid.org/0000-0001-6843-7207, Bertschi, Isabella C, Mahler, Fiona, Grotzer, Michael; https://orcid.org/0000-0002-1154-2732, Konrad, Daniel; https://orcid.org/0000-0001-9067-4356, Leibundgut, Kurt, Rössler, Jochen; https://orcid.org/0000-0003-4022-4917, Bodenmann, Guy; https://orcid.org/0000-0003-0964-6409, Landolt, Markus A; https://orcid.org/0000-0003-0760-5558, Vogt, Alexandra J; https://orcid.org/0000-0003-4703-7655, Bartels, Lasse; https://orcid.org/0000-0001-6843-7207, Bertschi, Isabella C, Mahler, Fiona, Grotzer, Michael; https://orcid.org/0000-0002-1154-2732, Konrad, Daniel; https://orcid.org/0000-0001-9067-4356, Leibundgut, Kurt, Rössler, Jochen; https://orcid.org/0000-0003-4022-4917, Bodenmann, Guy; https://orcid.org/0000-0003-0964-6409, and Landolt, Markus A; https://orcid.org/0000-0003-0760-5558

Abstract

In couples dealing with health problems, we-disease appraisals can influence dyadic coping strategies to alleviate distress. This study describes the development and validation of a self-report scale to assess we-disease appraisals of health problems. The newly developed We-Disease Questionnaire (WDQ) was administered in three samples: parents of children with type 1 diabetes (n = 240) or cancer (n = 125) and individuals with visual impairment and their partners (n = 216). Reliability was measured by coefficient omega. To assess construct validity, correlations with other measures of individual and dyadic adjustment were examined. Descriptive statistics across all samples were compared. A 4-item version of the WDQ demonstrated good reliability and validity and showed meaningful associations with established scales. We-disease appraisals were highest among parents of children with cancer and lowest among couples with visual impairment. The WDQ is a reliable and valid measure that can be used across different health problems.

Published
2024

5. A systematic review of the safety and efficacy of currently used treatment modalities in the treatment of patients with PIK3CA-related overgrowth spectrum

Author

Bernhard, Sarah M., Adam, Luise, Atef, Hady, Häberli, Dario, Bramer, Wichor M., Minder, Beatrice, Döring, Yvonne, Laine, Jessica E., Muka, Taulant, Rössler, Jochen, Baumgartner, Iris, Bernhard, Sarah M., Adam, Luise, Atef, Hady, Häberli, Dario, Bramer, Wichor M., Minder, Beatrice, Döring, Yvonne, Laine, Jessica E., Muka, Taulant, Rössler, Jochen, and Baumgartner, Iris

Published
2022

6. The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas.

Author

UCL - SSS/DDUV/GEHU - Génétique, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Service de chirurgie plastique, Diociaiuti, Andrea, Baselga, Eulalia, Boon, Laurence M, Dompmartin, Anne, Dvorakova, Veronika, El Hachem, May, Gasparella, Paolo, Haxhija, Emir, Ghaffarpour, Nader, Kyrklund, Kristiina, Irvine, Alan D, Kapp, Friedrich G, Rößler, Jochen, Salminen, Päivi, van den Bosch, Caroline, van der Vleuten, Carine, Kool, Leo Schultze, Vikkula, Miikka, UCL - SSS/DDUV/GEHU - Génétique, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Service de chirurgie plastique, Diociaiuti, Andrea, Baselga, Eulalia, Boon, Laurence M, Dompmartin, Anne, Dvorakova, Veronika, El Hachem, May, Gasparella, Paolo, Haxhija, Emir, Ghaffarpour, Nader, Kyrklund, Kristiina, Irvine, Alan D, Kapp, Friedrich G, Rößler, Jochen, Salminen, Päivi, van den Bosch, Caroline, van der Vleuten, Carine, Kool, Leo Schultze, and Vikkula, Miikka

Abstract

The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN), is dedicated to gathering the best expertise in Europe and provide accessible cross-border healthcare to patients with rare vascular diseases. Infantile Hemangiomas (IH) are benign vascular tumors of infancy that rapidly growth in the first weeks of life, followed by stabilization and spontaneous regression. In rare cases the extent, the localization or the number of lesions may cause severe complications that need specific and careful management. Severe IH may be life-threatening due to airway obstruction, liver or cardiac failure or may harbor a risk of functional impairment, severe pain, and/or significant and permanent disfigurement. Rare IHs include syndromic variants associated with extracutaneous abnormalities (PHACE and LUMBAR syndromes), and large segmental hemangiomas. There are publications that focus on evidence-based medicine on propranolol treatment for IH and consensus statements on the management of rare infantile hemangiomas mostly focused on PHACES syndrome. The Vascular Anomalies Working Group (VASCA-WG) decided to develop a diagnostic and management pathway for severe and rare IHs with a Nominal Group Technique (NGT), a well-established, structured, multistep, facilitated group meeting technique used to generate consensus statements. The pathway was drawn following two face-to-face meetings and in multiple web meetings to facilitate discussion, and by mail to avoid the influence of most authoritative members. The VASCA-WG has produced this opinion statement reflecting strategies developed by experts and patient representatives on how to approach patients with severe and rare IH in a practical manner; we present an algorithmic view of the results of our work.

Published
2022

7. The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas

Author

UCL - SSS/DDUV/GEHU - Génétique, UCL - (SLuc) Centre de malformations vasculaires congénitales, Diociaiuti, Andrea, Baselga, Eulalia, Boon, Laurence M., Dompmartin, Anne, Dvorakova, Veronika, El Hachem, May, Gasparella, Paolo, Haxhija, Emir, Ghaffarpour, Nader, Kyrklund, Kristiina, Irvine, Alan D., Kapp, Friedrich G., Rößler, Jochen, Salminen, Päivi, van den Bosch, Caroline, van der Vleuten, Carine, Kool, Leo Schultze, Vikkula, Miikka, UCL - SSS/DDUV/GEHU - Génétique, UCL - (SLuc) Centre de malformations vasculaires congénitales, Diociaiuti, Andrea, Baselga, Eulalia, Boon, Laurence M., Dompmartin, Anne, Dvorakova, Veronika, El Hachem, May, Gasparella, Paolo, Haxhija, Emir, Ghaffarpour, Nader, Kyrklund, Kristiina, Irvine, Alan D., Kapp, Friedrich G., Rößler, Jochen, Salminen, Päivi, van den Bosch, Caroline, van der Vleuten, Carine, Kool, Leo Schultze, and Vikkula, Miikka

Abstract

The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN), is dedicated to gathering the best expertise in Europe and provide accessible cross-border healthcare to patients with rare vascular diseases. Infantile Hemangiomas (IH) are benign vascular tumors of infancy that rapidly growth in the first weeks of life, followed by stabilization and spontaneous regression. In rare cases the extent, the localization or the number of lesions may cause severe complications that need specific and careful management. Severe IH may be lifethreatening due to airway obstruction, liver or cardiac failure or may harbor a risk of functional impairment, severe pain, and/or significant and permanent disfigurement. Rare IHs include syndromic variants associated with extracutaneous abnormalities (PHACE and LUMBAR syndromes), and large segmental hemangiomas. There are publications that focus on evidence-based medicine on propranolol treatment for IH and consensus statements on the management of rare infantile hemangiomas mostly focused on PHACES syndrome. The Vascular Anomalies Working Group (VASCA-WG) decided to develop a diagnostic and management pathway for severe and rare IHs with a Nominal Group Technique (NGT), a well-established, structured, multistep, facilitated group meeting technique used to generate consensus statements. The pathway was drawn following two face-to-face

Published
2022

8. No wrong decisions in an all‐wrong situation. A qualitative study on the lived experiences of families of children with diffuse intrinsic pontine glioma

Author

De Clercq, Eva; https://orcid.org/0000-0002-7835-9553, Grotzer, Michael; https://orcid.org/0000-0002-1154-2732, Landolt, Markus A; https://orcid.org/0000-0003-0760-5558, Helversen, Bettina, Flury, Maria; https://orcid.org/0000-0002-2954-0284, Rössler, Jochen; https://orcid.org/0000-0003-4022-4917, Kurzo, Andrea, Streuli, Jürg Caspar; https://orcid.org/0000-0001-7586-9542, De Clercq, Eva; https://orcid.org/0000-0002-7835-9553, Grotzer, Michael; https://orcid.org/0000-0002-1154-2732, Landolt, Markus A; https://orcid.org/0000-0003-0760-5558, Helversen, Bettina, Flury, Maria; https://orcid.org/0000-0002-2954-0284, Rössler, Jochen; https://orcid.org/0000-0003-4022-4917, Kurzo, Andrea, and Streuli, Jürg Caspar; https://orcid.org/0000-0001-7586-9542

Abstract

Background: Diffuse intrinsic pontine glioma (DIPG) is a rare, but lethal pediatric brain tumor with a median survival of less than 1 year. Existing treatment may prolong life and control symptoms, but may cause toxicity and side effects. In order to improve child- and family-centered care, we aimed to better understand the treatment decision-making experiences of parents, as studies on this topic are currently lacking. Procedure: The data for this study came from 24 semistructured interviews with parents whose children were diagnosed with DIPG in two children's hospitals in Switzerland and died between 2000 and 2016. Analysis of the dataset was done using reflexive thematic analysis. Results: For most parents, the decision for or against treatment was relatively straightforward given the fatality of the tumor and the absence of treatment protocols. Most of them had no regrets about their decision for or against treatment. The most distressing factor for them was observing their child's gradual loss of independence and informing them about the inescapability of death. To counter this powerlessness, many parents opted for complementary or alternative medicine in order to "do something." Many parents reported psychological problems in the aftermath of their child's death and coping strategies between mothers and fathers often differed. Conclusion: The challenges of DIPG are unique and explain why parental and shared decision-making is different in DIPG compared to other cancer diagnoses. Considering that treatment decisions shape parents' grief trajectory, clinicians should reassure parents by framing treatment decisions in terms of family's deeply held values and goals.

Published
2022

9. Cancer predisposition syndromes as a risk factor for early second primary neoplasms after childhood cancer - A national cohort study

Author

Waespe, Nicolas, Belle, Fabiën N, Redmond, Shelagh, Schindera, Christina, Spycher, Ben D, Rössler, Jochen, Ansari, Marc, Kuehni, Claudia E, Waespe, Nicolas, Belle, Fabiën N, Redmond, Shelagh, Schindera, Christina, Spycher, Ben D, Rössler, Jochen, Ansari, Marc, and Kuehni, Claudia E

Abstract

BACKGROUND Childhood cancer patients are at increased risk of second primary neoplasms (SPNs). We assessed incidence and risk factors for early SPNs with a focus on cancer predisposition syndromes (CPSs). PATIENTS AND METHODS This cohort study used data from the Swiss Childhood Cancer Registry. We included patients with first primary neoplasms (FPNs) diagnosed before age 21 years from 1986 to 2015 and identified SPNs occurring before age 21. We calculated standardised incidence ratios (SIRs) and absolute excess risks (AERs) using Swiss population cancer incidence data, and cumulative incidence of SPNs. We calculated hazard ratios (HRs) of risk factors for SPNs using Fine and Gray competing risk regression. RESULTS Among 8074 childhood cancer patients, 304 (4%) were diagnosed with a CPS and 94 (1%) developed early SPNs. The incidence of SPNs was more than 10-fold higher in childhood cancer patients than the incidence of neoplasms in the general population (SIR = 10.6, 95% confidence interval [CI]: 8.7-13.1) and the AER was 179/100,000 person-years (CI: 139-219). Cumulative incidence of SPNs 20 years after FPN diagnosis was 23% in patients with CPSs (CI: 12-41%) and 2.7% in those without (CI: 2.0-3.6%). Risk factors for SPNs were CPSs (HR = 7.8, CI: 4.8-12.7), chemotherapy (HR = 2.2, CI: 1.1-4.6), radiotherapy (HR = 1.9, CI = 1.2-2.9), haematopoietic stem cell transplantation (HR = 1.8, CI: 1-3.3), and older age (15-20 years) at FPN diagnosis (HR = 1.9, CI: 1.1-3.2). CONCLUSION CPSs are associated with a high risk of SPNs before age 21 years. Identification of CPSs is important for appropriate cancer surveillance and targeted screening.

Published
2021

10. Novel FGFR4-Targeting Single-Domain Antibodies for Multiple Targeted Therapies against Rhabdomyosarcoma

Author

Alijaj, Nagjie, Moutel, Sandrine; https://orcid.org/0000-0002-9585-4855, Gouveia, Zelia L, Gray, Maxim, Roveri, Maurizio, Dzhumashev, Dzhangar, Weber, Florian, Meier, Gianmarco, Luciani, Paola; https://orcid.org/0000-0001-9664-0149, Rössler, Jochen K, Schäfer, Beat W; https://orcid.org/0000-0001-5988-2915, Perez, Franck; https://orcid.org/0000-0002-9129-9401, Bernasconi, Michele; https://orcid.org/0000-0002-5746-8806, Alijaj, Nagjie, Moutel, Sandrine; https://orcid.org/0000-0002-9585-4855, Gouveia, Zelia L, Gray, Maxim, Roveri, Maurizio, Dzhumashev, Dzhangar, Weber, Florian, Meier, Gianmarco, Luciani, Paola; https://orcid.org/0000-0001-9664-0149, Rössler, Jochen K, Schäfer, Beat W; https://orcid.org/0000-0001-5988-2915, Perez, Franck; https://orcid.org/0000-0002-9129-9401, and Bernasconi, Michele; https://orcid.org/0000-0002-5746-8806

Abstract

The fibroblast growth factor receptor 4 (FGFR4) is overexpressed in rhabdomyosarcoma (RMS) and represents a promising target for treatments based on specific and efficient antibodies. Despite progress, there is an urgent need for targeted treatment options to improve survival rates, and to limit long-term side effects. From phage display libraries we selected FGFR4-specific single-domain antibodies (sdAb) binding to recombinant FGFR4 and validated them by flow cytometry, surface plasmon resonance, and fluorescence microscopy. The specificity of the selected sdAb was verified on FGFR4-wild type and FGFR4-knock out cells. FGFR4-sdAb were used to decorate vincristine-loaded liposomes and to generate chimeric antigen receptor (CAR) T cells. First, incubation of RMS cells with FGFR4-sdAb revealed that FGFR4-sdAb can block FGF19-FGFR4 signaling via the MAPK pathway and could therefore serve as therapeutics for FGFR4-dependent cancers. Second, FGFR4-targeted vincristine-loaded liposomes bound specifically to RMS cells and were internalized by the receptor, demonstrating the potential for active drug delivery to the tumor. Third, FGFR4-CAR T cells, generated with one sdAb candidate, demonstrated strong and specific cytotoxicity against FGFR4 expressing RMS cells. We selected novel FGFR4-sdAb with high specificity and nano- to picomolar affinities for FGFR4 which have the potential to enable multiple FGFR4-targeted cancer therapy approaches.

Published
2020

11. Stigmatization Predicts Psychological Adjustment and Quality of Life in Children and Adolescents With a Facial Difference

Author

Masnari, Ornella, Schiestl, Clemens, Rössler, Jochen, Gütlein, Stefanie K., Neuhaus, Kathrin, Weibel, Lisa, Meuli, Martin, Landolt, Markus A., Masnari, Ornella, Schiestl, Clemens, Rössler, Jochen, Gütlein, Stefanie K., Neuhaus, Kathrin, Weibel, Lisa, Meuli, Martin, and Landolt, Markus A.

Abstract

Objectives This cross-sectional study assessed psychological adjustment and health-related quality of life (HRQOL) in children and adolescents with congenital or acquired facial differences and identified potential predictors of adjustment. Methods Data were obtained from 88 children, ages 9 months to 16 years, by means of parent questionnaires (n = 86) and standardized interviews with children ≥7 years old (n = 31). Evaluation measures included the Child Behavior Checklist (CBCL), KIDSCREEN-27, TNO-AZL Preschool Quality of Life Questionnaire (TAPQOL), and Perceived Stigmatization Questionnaire. Results Psychological adjustment, as measured by the CBCL, was within norms. Parent-reported HRQOL was good in preschool children. Parent- and self-reported HRQOL of participants 7-16 years old was impaired in several dimensions, including psychological well-being. Psychological adjustment (especially internalizing behavior problems) and HRQOL were predicted primarily by perceived stigmatization. Conclusions Identification of stigma experiences and appropriate support may be crucial to enhancing psychological adjustment and quality of life in children with facial disfigurement

Published
2017

12. New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

Author

Sturm, Dominik, Orr, Brent A., Toprak, Umut H., Hovestadt, Volker, Jones, David T W, Capper, David, Sill, Martin, Buchhalter, Ivo, Northcott, Paul A., Leis, Irina, Ryzhova, Marina, Koelsche, Christian, Pfaff, Elke, Allen, Sariah J., Balasubramanian, Gnanaprakash, Worst, Barbara C., Pajtler, Kristian W., Brabetz, Sebastian, Johann, Pascal D., Sahm, Felix, Reimand, Jüri, Mackay, Alan, Carvalho, Diana M., Remke, Marc, Phillips, Joanna J., Perry, Arie, Cowdrey, Cynthia, Drissi, Rachid, Fouladi, Maryam, Giangaspero, Felice, Łastowska, Maria, Grajkowska, Wiesława, Scheurlen, Wolfram, Pietsch, Torsten, Hagel, Christian, Gojo, Johannes, Lötsch, Daniela, Berger, Walter, Slavc, Irene, Haberler, Christine, Jouvet, Anne, Holm, Stefan, Hofer, Silvia, Prinz, Marco, Keohane, Catherine, Fried, Iris, Mawrin, Christian, Scheie, David, Mobley, Bret C., Schniederjan, Matthew J., Santi, Mariarita, Buccoliero, Anna M., Dahiya, Sonika, Kramm, Christof M., Von Bueren, André O., Von Hoff, Katja, Rutkowski, Stefan, Herold-Mende, Christel, Frühwald, Michael C., Milde, Till, Hasselblatt, Martin, Wesseling, Pieter, Rößler, Jochen, Schüller, Ulrich, Ebinger, Martin, Schittenhelm, Jens, Frank, Stephan, Grobholz, Rainer, Vajtai, Istvan, Hans, Volkmar, Schneppenheim, Reinhard, Zitterbart, Karel, Collins, V. Peter, Aronica, Eleonora, Varlet, Pascale, Puget, Stephanie, Dufour, Christelle, Grill, Jacques, Figarella-Branger, Dominique, Wolter, Marietta, Schuhmann, Martin U., Shalaby, Tarek, Grotzer, Michael, Van Meter, Timothy, Monoranu, Camelia Maria, Felsberg, Jörg, Reifenberger, Guido, Snuderl, Matija, Forrester, Lynn Ann, Koster, Jan, Versteeg, Rogier, Volckmann, Richard, Van Sluis, Peter, Wolf, Stephan, Mikkelsen, Tom, Gajjar, Amar, Aldape, Kenneth, Moore, Andrew S., Taylor, Michael D., Jones, Chris, Jabado, Nada, Karajannis, Matthias A., Eils, Roland, Schlesner, Matthias, Lichter, Peter, Von Deimling, Andreas, Pfister, Stefan M., Ellison, David W., Korshunov, Andrey, Kool, Marcel, Sturm, Dominik, Orr, Brent A., Toprak, Umut H., Hovestadt, Volker, Jones, David T W, Capper, David, Sill, Martin, Buchhalter, Ivo, Northcott, Paul A., Leis, Irina, Ryzhova, Marina, Koelsche, Christian, Pfaff, Elke, Allen, Sariah J., Balasubramanian, Gnanaprakash, Worst, Barbara C., Pajtler, Kristian W., Brabetz, Sebastian, Johann, Pascal D., Sahm, Felix, Reimand, Jüri, Mackay, Alan, Carvalho, Diana M., Remke, Marc, Phillips, Joanna J., Perry, Arie, Cowdrey, Cynthia, Drissi, Rachid, Fouladi, Maryam, Giangaspero, Felice, Łastowska, Maria, Grajkowska, Wiesława, Scheurlen, Wolfram, Pietsch, Torsten, Hagel, Christian, Gojo, Johannes, Lötsch, Daniela, Berger, Walter, Slavc, Irene, Haberler, Christine, Jouvet, Anne, Holm, Stefan, Hofer, Silvia, Prinz, Marco, Keohane, Catherine, Fried, Iris, Mawrin, Christian, Scheie, David, Mobley, Bret C., Schniederjan, Matthew J., Santi, Mariarita, Buccoliero, Anna M., Dahiya, Sonika, Kramm, Christof M., Von Bueren, André O., Von Hoff, Katja, Rutkowski, Stefan, Herold-Mende, Christel, Frühwald, Michael C., Milde, Till, Hasselblatt, Martin, Wesseling, Pieter, Rößler, Jochen, Schüller, Ulrich, Ebinger, Martin, Schittenhelm, Jens, Frank, Stephan, Grobholz, Rainer, Vajtai, Istvan, Hans, Volkmar, Schneppenheim, Reinhard, Zitterbart, Karel, Collins, V. Peter, Aronica, Eleonora, Varlet, Pascale, Puget, Stephanie, Dufour, Christelle, Grill, Jacques, Figarella-Branger, Dominique, Wolter, Marietta, Schuhmann, Martin U., Shalaby, Tarek, Grotzer, Michael, Van Meter, Timothy, Monoranu, Camelia Maria, Felsberg, Jörg, Reifenberger, Guido, Snuderl, Matija, Forrester, Lynn Ann, Koster, Jan, Versteeg, Rogier, Volckmann, Richard, Van Sluis, Peter, Wolf, Stephan, Mikkelsen, Tom, Gajjar, Amar, Aldape, Kenneth, Moore, Andrew S., Taylor, Michael D., Jones, Chris, Jabado, Nada, Karajannis, Matthias A., Eils, Roland, Schlesner, Matthias, Lichter, Peter, Von Deimling, Andreas, Pfister, Stefan M., Ellison, David W., Korshunov, Andrey, and Kool, Marcel

Published
2016

13. New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

Author

Sturm, Dominik, Orr, Brent A., Toprak, Umut H., Hovestadt, Volker, Jones, David T W, Capper, David, Sill, Martin, Buchhalter, Ivo, Northcott, Paul A., Leis, Irina, Ryzhova, Marina, Koelsche, Christian, Pfaff, Elke, Allen, Sariah J., Balasubramanian, Gnanaprakash, Worst, Barbara C., Pajtler, Kristian W., Brabetz, Sebastian, Johann, Pascal D., Sahm, Felix, Reimand, Jüri, Mackay, Alan, Carvalho, Diana M., Remke, Marc, Phillips, Joanna J., Perry, Arie, Cowdrey, Cynthia, Drissi, Rachid, Fouladi, Maryam, Giangaspero, Felice, Łastowska, Maria, Grajkowska, Wiesława, Scheurlen, Wolfram, Pietsch, Torsten, Hagel, Christian, Gojo, Johannes, Lötsch, Daniela, Berger, Walter, Slavc, Irene, Haberler, Christine, Jouvet, Anne, Holm, Stefan, Hofer, Silvia, Prinz, Marco, Keohane, Catherine, Fried, Iris, Mawrin, Christian, Scheie, David, Mobley, Bret C., Schniederjan, Matthew J., Santi, Mariarita, Buccoliero, Anna M., Dahiya, Sonika, Kramm, Christof M., Von Bueren, André O., Von Hoff, Katja, Rutkowski, Stefan, Herold-Mende, Christel, Frühwald, Michael C., Milde, Till, Hasselblatt, Martin, Wesseling, Pieter, Rößler, Jochen, Schüller, Ulrich, Ebinger, Martin, Schittenhelm, Jens, Frank, Stephan, Grobholz, Rainer, Vajtai, Istvan, Hans, Volkmar, Schneppenheim, Reinhard, Zitterbart, Karel, Collins, V. Peter, Aronica, Eleonora, Varlet, Pascale, Puget, Stephanie, Dufour, Christelle, Grill, Jacques, Figarella-Branger, Dominique, Wolter, Marietta, Schuhmann, Martin U., Shalaby, Tarek, Grotzer, Michael, Van Meter, Timothy, Monoranu, Camelia Maria, Felsberg, Jörg, Reifenberger, Guido, Snuderl, Matija, Forrester, Lynn Ann, Koster, Jan, Versteeg, Rogier, Volckmann, Richard, Van Sluis, Peter, Wolf, Stephan, Mikkelsen, Tom, Gajjar, Amar, Aldape, Kenneth, Moore, Andrew S., Taylor, Michael D., Jones, Chris, Jabado, Nada, Karajannis, Matthias A., Eils, Roland, Schlesner, Matthias, Lichter, Peter, Von Deimling, Andreas, Pfister, Stefan M., Ellison, David W., Korshunov, Andrey, Kool, Marcel, Sturm, Dominik, Orr, Brent A., Toprak, Umut H., Hovestadt, Volker, Jones, David T W, Capper, David, Sill, Martin, Buchhalter, Ivo, Northcott, Paul A., Leis, Irina, Ryzhova, Marina, Koelsche, Christian, Pfaff, Elke, Allen, Sariah J., Balasubramanian, Gnanaprakash, Worst, Barbara C., Pajtler, Kristian W., Brabetz, Sebastian, Johann, Pascal D., Sahm, Felix, Reimand, Jüri, Mackay, Alan, Carvalho, Diana M., Remke, Marc, Phillips, Joanna J., Perry, Arie, Cowdrey, Cynthia, Drissi, Rachid, Fouladi, Maryam, Giangaspero, Felice, Łastowska, Maria, Grajkowska, Wiesława, Scheurlen, Wolfram, Pietsch, Torsten, Hagel, Christian, Gojo, Johannes, Lötsch, Daniela, Berger, Walter, Slavc, Irene, Haberler, Christine, Jouvet, Anne, Holm, Stefan, Hofer, Silvia, Prinz, Marco, Keohane, Catherine, Fried, Iris, Mawrin, Christian, Scheie, David, Mobley, Bret C., Schniederjan, Matthew J., Santi, Mariarita, Buccoliero, Anna M., Dahiya, Sonika, Kramm, Christof M., Von Bueren, André O., Von Hoff, Katja, Rutkowski, Stefan, Herold-Mende, Christel, Frühwald, Michael C., Milde, Till, Hasselblatt, Martin, Wesseling, Pieter, Rößler, Jochen, Schüller, Ulrich, Ebinger, Martin, Schittenhelm, Jens, Frank, Stephan, Grobholz, Rainer, Vajtai, Istvan, Hans, Volkmar, Schneppenheim, Reinhard, Zitterbart, Karel, Collins, V. Peter, Aronica, Eleonora, Varlet, Pascale, Puget, Stephanie, Dufour, Christelle, Grill, Jacques, Figarella-Branger, Dominique, Wolter, Marietta, Schuhmann, Martin U., Shalaby, Tarek, Grotzer, Michael, Van Meter, Timothy, Monoranu, Camelia Maria, Felsberg, Jörg, Reifenberger, Guido, Snuderl, Matija, Forrester, Lynn Ann, Koster, Jan, Versteeg, Rogier, Volckmann, Richard, Van Sluis, Peter, Wolf, Stephan, Mikkelsen, Tom, Gajjar, Amar, Aldape, Kenneth, Moore, Andrew S., Taylor, Michael D., Jones, Chris, Jabado, Nada, Karajannis, Matthias A., Eils, Roland, Schlesner, Matthias, Lichter, Peter, Von Deimling, Andreas, Pfister, Stefan M., Ellison, David W., Korshunov, Andrey, and Kool, Marcel

Published
2016

14. New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

Author

Sturm, Dominik, Orr, Brent A., Toprak, Umut H., Hovestadt, Volker, Jones, David T W, Capper, David, Sill, Martin, Buchhalter, Ivo, Northcott, Paul A., Leis, Irina, Ryzhova, Marina, Koelsche, Christian, Pfaff, Elke, Allen, Sariah J., Balasubramanian, Gnanaprakash, Worst, Barbara C., Pajtler, Kristian W., Brabetz, Sebastian, Johann, Pascal D., Sahm, Felix, Reimand, Jüri, Mackay, Alan, Carvalho, Diana M., Remke, Marc, Phillips, Joanna J., Perry, Arie, Cowdrey, Cynthia, Drissi, Rachid, Fouladi, Maryam, Giangaspero, Felice, Łastowska, Maria, Grajkowska, Wiesława, Scheurlen, Wolfram, Pietsch, Torsten, Hagel, Christian, Gojo, Johannes, Lötsch, Daniela, Berger, Walter, Slavc, Irene, Haberler, Christine, Jouvet, Anne, Holm, Stefan, Hofer, Silvia, Prinz, Marco, Keohane, Catherine, Fried, Iris, Mawrin, Christian, Scheie, David, Mobley, Bret C., Schniederjan, Matthew J., Santi, Mariarita, Buccoliero, Anna M., Dahiya, Sonika, Kramm, Christof M., Von Bueren, André O., Von Hoff, Katja, Rutkowski, Stefan, Herold-Mende, Christel, Frühwald, Michael C., Milde, Till, Hasselblatt, Martin, Wesseling, Pieter, Rößler, Jochen, Schüller, Ulrich, Ebinger, Martin, Schittenhelm, Jens, Frank, Stephan, Grobholz, Rainer, Vajtai, Istvan, Hans, Volkmar, Schneppenheim, Reinhard, Zitterbart, Karel, Collins, V. Peter, Aronica, Eleonora, Varlet, Pascale, Puget, Stephanie, Dufour, Christelle, Grill, Jacques, Figarella-Branger, Dominique, Wolter, Marietta, Schuhmann, Martin U., Shalaby, Tarek, Grotzer, Michael, Van Meter, Timothy, Monoranu, Camelia Maria, Felsberg, Jörg, Reifenberger, Guido, Snuderl, Matija, Forrester, Lynn Ann, Koster, Jan, Versteeg, Rogier, Volckmann, Richard, Van Sluis, Peter, Wolf, Stephan, Mikkelsen, Tom, Gajjar, Amar, Aldape, Kenneth, Moore, Andrew S., Taylor, Michael D., Jones, Chris, Jabado, Nada, Karajannis, Matthias A., Eils, Roland, Schlesner, Matthias, Lichter, Peter, Von Deimling, Andreas, Pfister, Stefan M., Ellison, David W., Korshunov, Andrey, Kool, Marcel, Sturm, Dominik, Orr, Brent A., Toprak, Umut H., Hovestadt, Volker, Jones, David T W, Capper, David, Sill, Martin, Buchhalter, Ivo, Northcott, Paul A., Leis, Irina, Ryzhova, Marina, Koelsche, Christian, Pfaff, Elke, Allen, Sariah J., Balasubramanian, Gnanaprakash, Worst, Barbara C., Pajtler, Kristian W., Brabetz, Sebastian, Johann, Pascal D., Sahm, Felix, Reimand, Jüri, Mackay, Alan, Carvalho, Diana M., Remke, Marc, Phillips, Joanna J., Perry, Arie, Cowdrey, Cynthia, Drissi, Rachid, Fouladi, Maryam, Giangaspero, Felice, Łastowska, Maria, Grajkowska, Wiesława, Scheurlen, Wolfram, Pietsch, Torsten, Hagel, Christian, Gojo, Johannes, Lötsch, Daniela, Berger, Walter, Slavc, Irene, Haberler, Christine, Jouvet, Anne, Holm, Stefan, Hofer, Silvia, Prinz, Marco, Keohane, Catherine, Fried, Iris, Mawrin, Christian, Scheie, David, Mobley, Bret C., Schniederjan, Matthew J., Santi, Mariarita, Buccoliero, Anna M., Dahiya, Sonika, Kramm, Christof M., Von Bueren, André O., Von Hoff, Katja, Rutkowski, Stefan, Herold-Mende, Christel, Frühwald, Michael C., Milde, Till, Hasselblatt, Martin, Wesseling, Pieter, Rößler, Jochen, Schüller, Ulrich, Ebinger, Martin, Schittenhelm, Jens, Frank, Stephan, Grobholz, Rainer, Vajtai, Istvan, Hans, Volkmar, Schneppenheim, Reinhard, Zitterbart, Karel, Collins, V. Peter, Aronica, Eleonora, Varlet, Pascale, Puget, Stephanie, Dufour, Christelle, Grill, Jacques, Figarella-Branger, Dominique, Wolter, Marietta, Schuhmann, Martin U., Shalaby, Tarek, Grotzer, Michael, Van Meter, Timothy, Monoranu, Camelia Maria, Felsberg, Jörg, Reifenberger, Guido, Snuderl, Matija, Forrester, Lynn Ann, Koster, Jan, Versteeg, Rogier, Volckmann, Richard, Van Sluis, Peter, Wolf, Stephan, Mikkelsen, Tom, Gajjar, Amar, Aldape, Kenneth, Moore, Andrew S., Taylor, Michael D., Jones, Chris, Jabado, Nada, Karajannis, Matthias A., Eils, Roland, Schlesner, Matthias, Lichter, Peter, Von Deimling, Andreas, Pfister, Stefan M., Ellison, David W., Korshunov, Andrey, and Kool, Marcel

Published
2016

15. New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs.

Author

Sturm, Dominik, Sturm, Dominik, Orr, Brent A, Toprak, Umut H, Hovestadt, Volker, Jones, David TW, Capper, David, Sill, Martin, Buchhalter, Ivo, Northcott, Paul A, Leis, Irina, Ryzhova, Marina, Koelsche, Christian, Pfaff, Elke, Allen, Sariah J, Balasubramanian, Gnanaprakash, Worst, Barbara C, Pajtler, Kristian W, Brabetz, Sebastian, Johann, Pascal D, Sahm, Felix, Reimand, Jüri, Mackay, Alan, Carvalho, Diana M, Remke, Marc, Phillips, Joanna J, Perry, Arie, Cowdrey, Cynthia, Drissi, Rachid, Fouladi, Maryam, Giangaspero, Felice, Łastowska, Maria, Grajkowska, Wiesława, Scheurlen, Wolfram, Pietsch, Torsten, Hagel, Christian, Gojo, Johannes, Lötsch, Daniela, Berger, Walter, Slavc, Irene, Haberler, Christine, Jouvet, Anne, Holm, Stefan, Hofer, Silvia, Prinz, Marco, Keohane, Catherine, Fried, Iris, Mawrin, Christian, Scheie, David, Mobley, Bret C, Schniederjan, Matthew J, Santi, Mariarita, Buccoliero, Anna M, Dahiya, Sonika, Kramm, Christof M, von Bueren, André O, von Hoff, Katja, Rutkowski, Stefan, Herold-Mende, Christel, Frühwald, Michael C, Milde, Till, Hasselblatt, Martin, Wesseling, Pieter, Rößler, Jochen, Schüller, Ulrich, Ebinger, Martin, Schittenhelm, Jens, Frank, Stephan, Grobholz, Rainer, Vajtai, Istvan, Hans, Volkmar, Schneppenheim, Reinhard, Zitterbart, Karel, Collins, V Peter, Aronica, Eleonora, Varlet, Pascale, Puget, Stephanie, Dufour, Christelle, Grill, Jacques, Figarella-Branger, Dominique, Wolter, Marietta, Schuhmann, Martin U, Shalaby, Tarek, Grotzer, Michael, van Meter, Timothy, Monoranu, Camelia-Maria, Felsberg, Jörg, Reifenberger, Guido, Snuderl, Matija, Forrester, Lynn Ann, Koster, Jan, Versteeg, Rogier, Volckmann, Richard, van Sluis, Peter, Wolf, Stephan, Mikkelsen, Tom, Gajjar, Amar, Aldape, Kenneth, Moore, Andrew S, Taylor, Michael D, Jones, Chris, Sturm, Dominik, Sturm, Dominik, Orr, Brent A, Toprak, Umut H, Hovestadt, Volker, Jones, David TW, Capper, David, Sill, Martin, Buchhalter, Ivo, Northcott, Paul A, Leis, Irina, Ryzhova, Marina, Koelsche, Christian, Pfaff, Elke, Allen, Sariah J, Balasubramanian, Gnanaprakash, Worst, Barbara C, Pajtler, Kristian W, Brabetz, Sebastian, Johann, Pascal D, Sahm, Felix, Reimand, Jüri, Mackay, Alan, Carvalho, Diana M, Remke, Marc, Phillips, Joanna J, Perry, Arie, Cowdrey, Cynthia, Drissi, Rachid, Fouladi, Maryam, Giangaspero, Felice, Łastowska, Maria, Grajkowska, Wiesława, Scheurlen, Wolfram, Pietsch, Torsten, Hagel, Christian, Gojo, Johannes, Lötsch, Daniela, Berger, Walter, Slavc, Irene, Haberler, Christine, Jouvet, Anne, Holm, Stefan, Hofer, Silvia, Prinz, Marco, Keohane, Catherine, Fried, Iris, Mawrin, Christian, Scheie, David, Mobley, Bret C, Schniederjan, Matthew J, Santi, Mariarita, Buccoliero, Anna M, Dahiya, Sonika, Kramm, Christof M, von Bueren, André O, von Hoff, Katja, Rutkowski, Stefan, Herold-Mende, Christel, Frühwald, Michael C, Milde, Till, Hasselblatt, Martin, Wesseling, Pieter, Rößler, Jochen, Schüller, Ulrich, Ebinger, Martin, Schittenhelm, Jens, Frank, Stephan, Grobholz, Rainer, Vajtai, Istvan, Hans, Volkmar, Schneppenheim, Reinhard, Zitterbart, Karel, Collins, V Peter, Aronica, Eleonora, Varlet, Pascale, Puget, Stephanie, Dufour, Christelle, Grill, Jacques, Figarella-Branger, Dominique, Wolter, Marietta, Schuhmann, Martin U, Shalaby, Tarek, Grotzer, Michael, van Meter, Timothy, Monoranu, Camelia-Maria, Felsberg, Jörg, Reifenberger, Guido, Snuderl, Matija, Forrester, Lynn Ann, Koster, Jan, Versteeg, Rogier, Volckmann, Richard, van Sluis, Peter, Wolf, Stephan, Mikkelsen, Tom, Gajjar, Amar, Aldape, Kenneth, Moore, Andrew S, Taylor, Michael D, and Jones, Chris

Abstract

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

16. New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

Author

Pathologie patiënten zorg, Pathologie, Cancer, Sturm, Dominik, Orr, Brent A., Toprak, Umut H., Hovestadt, Volker, Jones, David T W, Capper, David, Sill, Martin, Buchhalter, Ivo, Northcott, Paul A., Leis, Irina, Ryzhova, Marina, Koelsche, Christian, Pfaff, Elke, Allen, Sariah J., Balasubramanian, Gnanaprakash, Worst, Barbara C., Pajtler, Kristian W., Brabetz, Sebastian, Johann, Pascal D., Sahm, Felix, Reimand, Jüri, Mackay, Alan, Carvalho, Diana M., Remke, Marc, Phillips, Joanna J., Perry, Arie, Cowdrey, Cynthia, Drissi, Rachid, Fouladi, Maryam, Giangaspero, Felice, Łastowska, Maria, Grajkowska, Wiesława, Scheurlen, Wolfram, Pietsch, Torsten, Hagel, Christian, Gojo, Johannes, Lötsch, Daniela, Berger, Walter, Slavc, Irene, Haberler, Christine, Jouvet, Anne, Holm, Stefan, Hofer, Silvia, Prinz, Marco, Keohane, Catherine, Fried, Iris, Mawrin, Christian, Scheie, David, Mobley, Bret C., Schniederjan, Matthew J., Santi, Mariarita, Buccoliero, Anna M., Dahiya, Sonika, Kramm, Christof M., Von Bueren, André O., Von Hoff, Katja, Rutkowski, Stefan, Herold-Mende, Christel, Frühwald, Michael C., Milde, Till, Hasselblatt, Martin, Wesseling, Pieter, Rößler, Jochen, Schüller, Ulrich, Ebinger, Martin, Schittenhelm, Jens, Frank, Stephan, Grobholz, Rainer, Vajtai, Istvan, Hans, Volkmar, Schneppenheim, Reinhard, Zitterbart, Karel, Collins, V. Peter, Aronica, Eleonora, Varlet, Pascale, Puget, Stephanie, Dufour, Christelle, Grill, Jacques, Figarella-Branger, Dominique, Wolter, Marietta, Schuhmann, Martin U., Shalaby, Tarek, Grotzer, Michael, Van Meter, Timothy, Monoranu, Camelia Maria, Felsberg, Jörg, Reifenberger, Guido, Snuderl, Matija, Forrester, Lynn Ann, Koster, Jan, Versteeg, Rogier, Volckmann, Richard, Van Sluis, Peter, Wolf, Stephan, Mikkelsen, Tom, Gajjar, Amar, Aldape, Kenneth, Moore, Andrew S., Taylor, Michael D., Jones, Chris, Jabado, Nada, Karajannis, Matthias A., Eils, Roland, Schlesner, Matthias, Lichter, Peter, Von Deimling, Andreas, Pfister, Stefan M., Ellison, David W., Korshunov, Andrey, Kool, Marcel, Pathologie patiënten zorg, Pathologie, Cancer, Sturm, Dominik, Orr, Brent A., Toprak, Umut H., Hovestadt, Volker, Jones, David T W, Capper, David, Sill, Martin, Buchhalter, Ivo, Northcott, Paul A., Leis, Irina, Ryzhova, Marina, Koelsche, Christian, Pfaff, Elke, Allen, Sariah J., Balasubramanian, Gnanaprakash, Worst, Barbara C., Pajtler, Kristian W., Brabetz, Sebastian, Johann, Pascal D., Sahm, Felix, Reimand, Jüri, Mackay, Alan, Carvalho, Diana M., Remke, Marc, Phillips, Joanna J., Perry, Arie, Cowdrey, Cynthia, Drissi, Rachid, Fouladi, Maryam, Giangaspero, Felice, Łastowska, Maria, Grajkowska, Wiesława, Scheurlen, Wolfram, Pietsch, Torsten, Hagel, Christian, Gojo, Johannes, Lötsch, Daniela, Berger, Walter, Slavc, Irene, Haberler, Christine, Jouvet, Anne, Holm, Stefan, Hofer, Silvia, Prinz, Marco, Keohane, Catherine, Fried, Iris, Mawrin, Christian, Scheie, David, Mobley, Bret C., Schniederjan, Matthew J., Santi, Mariarita, Buccoliero, Anna M., Dahiya, Sonika, Kramm, Christof M., Von Bueren, André O., Von Hoff, Katja, Rutkowski, Stefan, Herold-Mende, Christel, Frühwald, Michael C., Milde, Till, Hasselblatt, Martin, Wesseling, Pieter, Rößler, Jochen, Schüller, Ulrich, Ebinger, Martin, Schittenhelm, Jens, Frank, Stephan, Grobholz, Rainer, Vajtai, Istvan, Hans, Volkmar, Schneppenheim, Reinhard, Zitterbart, Karel, Collins, V. Peter, Aronica, Eleonora, Varlet, Pascale, Puget, Stephanie, Dufour, Christelle, Grill, Jacques, Figarella-Branger, Dominique, Wolter, Marietta, Schuhmann, Martin U., Shalaby, Tarek, Grotzer, Michael, Van Meter, Timothy, Monoranu, Camelia Maria, Felsberg, Jörg, Reifenberger, Guido, Snuderl, Matija, Forrester, Lynn Ann, Koster, Jan, Versteeg, Rogier, Volckmann, Richard, Van Sluis, Peter, Wolf, Stephan, Mikkelsen, Tom, Gajjar, Amar, Aldape, Kenneth, Moore, Andrew S., Taylor, Michael D., Jones, Chris, Jabado, Nada, Karajannis, Matthias A., Eils, Roland, Schlesner, Matthias, Lichter, Peter, Von Deimling, Andreas, Pfister, Stefan M., Ellison, David W., Korshunov, Andrey, and Kool, Marcel

Published
2016

17. New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

Author

Sturm, Dominik, Orr, Brent A, Toprak, Umut H, Hovestadt, Volker, Jones, David T W, Capper, David, Sill, Martin, Buchhalter, Ivo, Northcott, Paul A, Leis, Irina, Ryzhova, Marina, Koelsche, Christian, Pfaff, Elke, Allen, Sariah J, Balasubramanian, Gnanaprakash, Worst, Barbara C, Pajtler, Kristian W, Brabetz, Sebastian, Johann, Pascal David, Sahm, Felix, Reimand, Jüri, Mackay, Alan sim, Carvalho, Diana M, Remke, Marc, Phillips, Joanna J, Perry, Arie, Cowdrey, Cynthia, Drissi, Rachid, Fouladi, Maryam, Giangaspero, Felice, Łastowska, Maria, Grajkowska, Wiesława, Scheurlen, Wolfram, Pietsch, Torsten, Hagel, Christian, Gojo, Johannes, Lötsch, Daniela, Berger, Walter, Slavc, Irene, Haberler, Christine, Jouvet, Anne, Holm, Stefan, Hofer, Silvia, Prinz, Marco, Keohane, Catherine, Fried, Iris, Mawrin, Christian, Scheie, David, Mobley, Bret C, Schniederjan, Matthew J, Santi, Mariarita, Buccoliero, Anna M, Dahiya, Sonika, Kramm, Christof M, von Bueren, André O, von Hoff, Katja, Rutkowski, Stefan, Herold-Mende, Christel, Frühwald, Michael C, Milde, Till, Hasselblatt, Martin, Wesseling, Pieter, Rössler, Jochen, Schüller, Ulrich, Ebinger, Martin, Schittenhelm, Jens, Frank, Stephan, Grobholz, Rainer, Vajtai, Istvan, Hans, Volkmar, Schneppenheim, Reinhard, Zitterbart, Karel, Collins, V Peter, Aronica, Eleonora, Varlet, Pascale, Puget, Stephanie, Dufour, Christelle, Grill, Jacques, Figarella-Branger, Dominique, Wolter, Marietta, Schuhmann, Martin U, Shalaby, Tarek, Grotzer, Michael, van Meter, Timothy, Monoranu, Camelia-Maria, Felsberg, Jörg, Reifenberger, Guido, Snuderl, Matija, Forrester, Lynn Ann, Koster, Jan, Versteeg, Rogier, Volckmann, Richard, van Sluis, Peter, Wolf, Stephan, Mikkelsen, Tom, Gajjar, Amar, Aldape, Kenneth, Moore, Andrew S., Taylor, Michael D, Jones, Chris, Jabado, Nada, Karajannis, Matthias A, Eils, Roland, Schlesner, Matthias, Lichter, Peter, von Deimling, Andreas, Pfister, Stefan M, Ellison, David W, Korshunov, Andrey, Kool, Marcel, Sturm, Dominik, Orr, Brent A, Toprak, Umut H, Hovestadt, Volker, Jones, David T W, Capper, David, Sill, Martin, Buchhalter, Ivo, Northcott, Paul A, Leis, Irina, Ryzhova, Marina, Koelsche, Christian, Pfaff, Elke, Allen, Sariah J, Balasubramanian, Gnanaprakash, Worst, Barbara C, Pajtler, Kristian W, Brabetz, Sebastian, Johann, Pascal David, Sahm, Felix, Reimand, Jüri, Mackay, Alan sim, Carvalho, Diana M, Remke, Marc, Phillips, Joanna J, Perry, Arie, Cowdrey, Cynthia, Drissi, Rachid, Fouladi, Maryam, Giangaspero, Felice, Łastowska, Maria, Grajkowska, Wiesława, Scheurlen, Wolfram, Pietsch, Torsten, Hagel, Christian, Gojo, Johannes, Lötsch, Daniela, Berger, Walter, Slavc, Irene, Haberler, Christine, Jouvet, Anne, Holm, Stefan, Hofer, Silvia, Prinz, Marco, Keohane, Catherine, Fried, Iris, Mawrin, Christian, Scheie, David, Mobley, Bret C, Schniederjan, Matthew J, Santi, Mariarita, Buccoliero, Anna M, Dahiya, Sonika, Kramm, Christof M, von Bueren, André O, von Hoff, Katja, Rutkowski, Stefan, Herold-Mende, Christel, Frühwald, Michael C, Milde, Till, Hasselblatt, Martin, Wesseling, Pieter, Rössler, Jochen, Schüller, Ulrich, Ebinger, Martin, Schittenhelm, Jens, Frank, Stephan, Grobholz, Rainer, Vajtai, Istvan, Hans, Volkmar, Schneppenheim, Reinhard, Zitterbart, Karel, Collins, V Peter, Aronica, Eleonora, Varlet, Pascale, Puget, Stephanie, Dufour, Christelle, Grill, Jacques, Figarella-Branger, Dominique, Wolter, Marietta, Schuhmann, Martin U, Shalaby, Tarek, Grotzer, Michael, van Meter, Timothy, Monoranu, Camelia-Maria, Felsberg, Jörg, Reifenberger, Guido, Snuderl, Matija, Forrester, Lynn Ann, Koster, Jan, Versteeg, Rogier, Volckmann, Richard, van Sluis, Peter, Wolf, Stephan, Mikkelsen, Tom, Gajjar, Amar, Aldape, Kenneth, Moore, Andrew S., Taylor, Michael D, Jones, Chris, Jabado, Nada, Karajannis, Matthias A, Eils, Roland, Schlesner, Matthias, Lichter, Peter, von Deimling, Andreas, Pfister, Stefan M, Ellison, David W, Korshunov, Andrey, and Kool, Marcel

Abstract

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

18. Stigmatization Predicts Psychological Adjustment and Quality of Life in Children and Adolescents With a Facial Difference

Author

Masnari, Ornella, Schiestl, Clemens, Rössler, Jochen, Gütlein, Stefanie K., Neuhaus, Kathrin, Weibel, Lisa, Meuli, Martin, Landolt, Markus A., Masnari, Ornella, Schiestl, Clemens, Rössler, Jochen, Gütlein, Stefanie K., Neuhaus, Kathrin, Weibel, Lisa, Meuli, Martin, and Landolt, Markus A.

Abstract

Objectives This cross-sectional study assessed psychological adjustment and health-related quality of life (HRQOL) in children and adolescents with congenital or acquired facial differences and identified potential predictors of adjustment. Methods Data were obtained from 88 children, ages 9 months to 16 years, by means of parent questionnaires (n = 86) and standardized interviews with children ≥7 years old (n = 31). Evaluation measures included the Child Behavior Checklist (CBCL), KIDSCREEN-27, TNO-AZL Preschool Quality of Life Questionnaire (TAPQOL), and Perceived Stigmatization Questionnaire. Results Psychological adjustment, as measured by the CBCL, was within norms. Parent-reported HRQOL was good in preschool children. Parent- and self-reported HRQOL of participants 7-16 years old was impaired in several dimensions, including psychological well-being. Psychological adjustment (especially internalizing behavior problems) and HRQOL were predicted primarily by perceived stigmatization. Conclusions Identification of stigma experiences and appropriate support may be crucial to enhancing psychological adjustment and quality of life in children with facial disfigurement

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