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  • BSZ  (97)
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  • 1
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    Subgroup-specific alternative splicing in medulloblastoma (2012)
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    UID:
    (DE-627)1585098663
    Format: 15
    ISSN: 1432-0533
    Note: Gesehen am 11.12.2018
    In: Acta neuropathologica, Berlin : Springer, 1961, 123(2012), 4, Seite 485-499, 1432-0533
    In: volume:123
    In: year:2012
    In: number:4
    In: pages:485-499
    In: extent:15
    Language: English
    DOI: 10.1007/s00401-012-0959-7
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  • 2
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    Prognostic value of medulloblastoma extent of resection after accounting for molecular subgroup : a retrospective integrated clinical and molecular analysis (11)
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    UID:
    (DE-627)168542239X
    Format: 12
    ISSN: 1474-5488
    Content: Background - Patients with incomplete surgical resection of medulloblastoma are controversially regarded as having a marker of high-risk disease, which leads to patients undergoing aggressive surgical resections, so-called second-look surgeries, and intensified chemoradiotherapy. All previous studies assessing the clinical importance of extent of resection have not accounted for molecular subgroup. We analysed the prognostic value of extent of resection in a subgroup-specific manner. - Methods - We retrospectively identified patients who had a histological diagnosis of medulloblastoma and complete data about extent of resection and survival from centres participating in the Medulloblastoma Advanced Genomics International Consortium. We collected from resections done between April, 1997, and February, 2013, at 35 international institutions. We established medulloblastoma subgroup affiliation by gene expression profiling on frozen or formalin-fixed paraffin-embedded tissues. We classified extent of resection on the basis of postoperative imaging as gross total resection (no residual tumour), near-total resection (〈1·5 cm2 tumour remaining), or sub-total resection (≥1·5 cm2 tumour remaining). We did multivariable analyses of overall survival and progression-free survival using the variables molecular subgroup (WNT, SHH, group 4, and group 3), age (〈3 vs ≥3 years old), metastatic status (metastases vs no metastases), geographical location of therapy (North America/Australia vs rest of the world), receipt of chemotherapy (yes vs no) and receipt of craniospinal irradiation (〈30 Gy or 〉30 Gy vs no craniospinal irradiation). The primary analysis outcome was the effect of extent of resection by molecular subgroup and the effects of other clinical variables on overall and progression-free survival. - Findings - We included 787 patients with medulloblastoma (86 with WNT tumours, 242 with SHH tumours, 163 with group 3 tumours, and 296 with group 4 tumours) in our multivariable Cox models of progression-free and overall survival. We found that the prognostic benefit of increased extent of resection for patients with medulloblastoma is attenuated after molecular subgroup affiliation is taken into account. We identified a progression-free survival benefit for gross total resection over sub-total resection (hazard ratio [HR] 1·45, 95% CI 1·07-1·96, p=0·16) but no overall survival benefit (HR 1·23, 0·87-1·72, p=0·24). We saw no progression-free survival or overall survival benefit for gross total resection compared with near-total resection (HR 1·05, 0·71-1·53, p=0·8158 for progression-free survival and HR 1·14, 0·75-1·72, p=0·55 for overall survival). No significant survival benefit existed for greater extent of resection for patients with WNT, SHH, or group 3 tumours (HR 1·03, 0·67-1·58, p=0·89 for sub-total resection vs gross total resection). For patients with group 4 tumours, gross total resection conferred a benefit to progression-free survival compared with sub-total resection (HR 1·97, 1·22-3·17, p=0·0056), especially for those with metastatic disease (HR 2·22, 1·00-4·93, p=0·050). However, gross total resection had no effect on overall survival compared with sub-total resection in patients with group 4 tumours (HR 1·67, 0·93-2·99, p=0·084). - Interpretation - The prognostic benefit of increased extent of resection for patients with medulloblastoma is attenuated after molecular subgroup affiliation is taken into account. Although maximum safe surgical resection should remain the standard of care, surgical removal of small residual portions of medulloblastoma is not recommended when the likelihood of neurological morbidity is high because there is no definitive benefit to gross total resection compared with near-total resection. - Funding - Canadian Cancer Society Research Institute, Terry Fox Research Institute, Canadian Institutes of Health Research, National Institutes of Health, Pediatric Brain Tumor Foundation, and the Garron Family Chair in Childhood Cancer Research.
    Note: Gesehen am 12.12.2019
    In: The lancet 〈London〉 / Oncology, London : The Lancet Publ. Group, 2000, 17(2016), 4, Seite 484-495, 1474-5488
    In: volume:17
    In: year:2016
    In: number:4
    In: pages:484-495
    In: extent:12
    Language: English
    DOI: 10.1016/S1470-2045(15)00581-1
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  • 3
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    Mutations in regulators of the epigenome and their connections to global chromatin patterns in cancer (9)
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    UID:
    (DE-627)1779070446
    Format: 16
    ISSN: 1471-0064
    Content: Tumour genomes are characterized by extensive alterations that affect the genome as well as the epigenome. Both types of alterations change global gene expression patterns.Novel genome-wide sequencing technologies allow the comprehensive search for genetic and epigenetic alterations. These technologies provide extensive data sets on genes and gene regions that are altered in a cancer genome.Many malignancies show mutations or other chromosomal rearrangements in genes that are responsible for the establishment, maintenance and reading of epigenetic patterns.Epigenetic pathways include DNA methylation, histone modifications and chromatin remodelling.Many tumour genomes carry a specific mutation in a regulator of the epigenome (such as histone H3.3 K27M and isocitrate dehydrogenase 1 (IDH1) R132H mutations) and are characterized by subgroup-specific DNA and histone modification patterns. This suggests that mutations in regulators of the epigenome are mechanistically linked to the altered epigenome.In this Review, we propose a systematic integrative analysis of profiling data to uncover molecular mechanisms that lead to altered epigenomes.Mutations in regulators of the epigenome are attractive targets for epigenetic therapy.
    Note: Gesehen am 25.11.2021
    In: Nature reviews / Genetics, London : Nature Publ. Group, 2000, 14(2013), 11, Seite 765-780, 1471-0064
    In: volume:14
    In: year:2013
    In: number:11
    In: pages:765-780
    In: extent:16
    Language: English
    DOI: 10.1038/nrg3554
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  • 4
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    Clinical, radiologic, pathologic, and molecular characteristics of long-term survivors of diffuse intrinsic pontine glioma (DIPG) : a collaborative report from the International and European Society for Pediatric Oncology DIPG Registries (10)
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    UID:
    (DE-627)169155930X
    Format: 10
    ISSN: 1527-7755
    Content: PurposeDiffuse intrinsic pontine glioma (DIPG) is a brainstem malignancy with a median survival of 〈 1 year. The International and European Society for Pediatric Oncology DIPG Registries collaborated to compare clinical, radiologic, and histomolecular characteristics between short-term survivors (STSs) and long-term survivors (LTSs).Materials and MethodsData abstracted from registry databases included patients from North America, Australia, Germany, Austria, Switzerland, the Netherlands, Italy, France, the United Kingdom, and Croatia.ResultsAmong 1,130 pediatric and young adults with radiographically confirmed DIPG, 122 (11%) were excluded. Of the 1,008 remaining patients, 101 (10%) were LTSs (survival ≥ 2 years). Median survival time was 11 months (interquartile range, 7.5 to 16 months), and 1-, 2-, 3-, 4-, and 5-year survival rates were 42.3% (95% CI, 38.1% to 44.1%), 9.6% (95% CI, 7.8% to 11.3%), 4.3% (95% CI, 3.2% to 5.8%), 3.2% (95% CI, 2.4% to 4.6%), and 2.2% (95% CI, 1.4% to 3.4%), respectively. LTSs, compared with STSs, more commonly presented at age 〈 3 or 〉 10 years (11% v 3% and 33% v 23%, respectively; P 〈 .001) and with longer symptom duration (P 〈 .001). STSs, compared with LTSs, more commonly presented with cranial nerve palsy (83% v 73%, respectively; P = .008), ring enhancement (38% v 23%, respectively; P = .007), necrosis (42% v 26%, respectively; P = .009), and extrapontine extension (92% v 86%, respectively; P = .04). LTSs more commonly received systemic therapy at diagnosis (88% v 75% for STSs; P = .005). Biopsies and autopsies were performed in 299 patients (30%) and 77 patients (10%), respectively; 181 tumors (48%) were molecularly characterized. LTSs were more likely to harbor a HIST1H3B mutation (odds ratio, 1.28; 95% CI, 1.1 to 1.5; P = .002).ConclusionWe report clinical, radiologic, and molecular factors that correlate with survival in children and young adults with DIPG, which are important for risk stratification in future clinical trials.
    Note: Gesehen am 04.03.2020
    In: Journal of clinical oncology, Alexandria, Va. : American Society of Clinical Oncology, 1983, 36(2018), 19, Seite 1963-1972, 1527-7755
    In: volume:36
    In: year:2018
    In: number:19
    In: pages:1963-1972
    In: extent:10
    Language: English
    DOI: 10.1200/JCO.2017.75.9308
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  • 5
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    The genetics of pediatric brain tumors (12)
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    UID:
    (DE-627)1837061564
    Format: 9
    ISSN: 1534-6293
    Content: Brain tumors are the most common childhood solid malignancy and the leading cause of cancer-related death in children. Medulloblastoma, ependymoma, supratentorial primitive neuroectodermal tumors, and pilocytic astrocytoma are the most prevalent types, all of which are clinically, histologically, and genetically heterogeneous. Despite an incomplete molecular understanding of these tumors, we have made significant headway in the past 5 years in identifying and classifying important genetic alterations and pathways central to the disease process. This review summarizes our current state of knowledge, emphasizes recent seminal findings in the field, and proposes future research efforts needed to further characterize the genetic basis of pediatric brain tumors.
    Note: Gesehen am 20.02.2023
    In: Current neurology and neuroscience reports, Philadelphia, Pa. : Current Science Inc., 2001, 10(2010), 3, Seite 215-223, 1534-6293
    In: volume:10
    In: year:2010
    In: number:3
    In: pages:215-223
    In: extent:9
    Language: English
    DOI: 10.1007/s11910-010-0103-9
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  • 6
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    Heterogeneity within the PF-EPN-B ependymoma subgroup (2018)
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    UID:
    (DE-627)1662712324
    Format: 11 , Illustrationen
    ISSN: 1432-0533
    Content: Posterior fossa ependymoma comprise three distinct molecular variants, termed PF-EPN-A (PFA), PF-EPN-B (PFB), and PF-EPN-SE (subependymoma). Clinically, they are very disparate and PFB tumors are currently being considered for a trial of radiation avoidance. However, to move forward, unraveling the heterogeneity within PFB would be highly desirable. To discern the molecular heterogeneity within PFB, we performed an integrated analysis consisting of DNA methylation profiling, copy-number profiling, gene expression profiling, and clinical correlation across a cohort of 212 primary posterior fossa PFB tumors. Unsupervised spectral clustering and t-SNE analysis of genome-wide methylation data revealed five distinct subtypes of PFB tumors, termed PFB1-5, with distinct demographics, copy-number alterations, and gene expression profiles. All PFB subtypes were distinct from PFA and posterior fossa subependymomas. Of the five subtypes, PFB4 and PFB5 are more discrete, consisting of younger and older patients, respectively, with a strong female-gender enrichment in PFB5 (age: p = 0.011, gender: p = 0.04). Broad copy-number aberrations were common; however, many events such as chromosome 2 loss, 5 gain, and 17 loss were enriched in specific subtypes and 1q gain was enriched in PFB1. Late relapses were common across all five subtypes, but deaths were uncommon and present in only two subtypes (PFB1 and PFB3). Unlike the case in PFA ependymoma, 1q gain was not a robust marker of poor progression-free survival; however, chromosome 13q loss may represent a novel marker for risk stratification across the spectrum of PFB subtypes. Similar to PFA ependymoma, there exists a significant intertumoral heterogeneity within PFB, with distinct molecular subtypes identified. Even when accounting for this heterogeneity, extent of resection remains the strongest predictor of poor outcome. However, this biological heterogeneity must be accounted for in future preclinical modeling and personalized therapies.
    Note: First online: 17 July 2018 , Gesehen am 02.04.2019
    In: Acta neuropathologica, Berlin : Springer, 1961, 136(2018), 2, Seite 227-237, 1432-0533
    In: volume:136
    In: year:2018
    In: number:2
    In: pages:227-237
    In: extent:11
    Language: English
    DOI: 10.1007/s00401-018-1888-x
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  • 7
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    Ein Update zum Li-Fraumeni-Syndrom (11)
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    UID:
    (DE-627)1694259137
    Format: 8
    ISSN: 1432-1963
    Content: Das Li-Fraumeni-Syndrom (LFS; „Online Mendelian Inheritance in Man“, OMIM #151623) gilt als eines der aggressivsten derzeit bekannten Krebsprädispositionssyndrome. Das heterogene Tumorspektrum wird dominiert von Knochen- und Weichteilsarkomen, verschiedenen Hirntumoren, prämenopausalem Brustkrebs und dem adrenokortikalen Karzinom (ACC). Bereits im Kindesalter ist das Krebsrisiko sehr stark erhöht und nicht selten entwickeln Menschen mit einem LFS synchrone und metachrone Tumoren. Bei der Diagnosestellung können typische histopathologische Befunde und molekulargenetische Signaturen helfen. Das LFS wird autosomal-dominant vererbt und zeigt dabei eine variablere Penetranz als bisher angenommen. Die Prävalenz des LFS liegt bei etwa 1:5000 mit einer hohen interregionalen Varianz. Verursacht wird das LFS durch eine Keimbahnmutation im TP53-Gen. TP53 kodiert für das Protein p53, ein essentieller Transkriptionsfaktor, der bei zellulärem Stress eine Antitumorantwort der Zelle initiiert. Bei Menschen mit LFS kommt es, bedingt durch den Verlust an funktionstüchtigem p53, zu einer Störung des zellulären Schutzmechanismus und damit zu einem deutlich erhöhten Krebsrisiko. Um das Überleben von Menschen mit LFS zu verbessern, werden strukturiert getaktete Früherkennungsmaßnahmen empfohlen. Es bedarf jedoch nationaler und internationaler longitudinaler Beobachtungsstudien, um eine gute Kosten/Aufwand - Nutzen Abwägung zu erhalten. Aus diesem Grund haben die Autoren das LFS-Krebsprädispositionsregister gegründet, in das alle Patienten mit LFS und anderen Krebsprädispositionssyndromen gemeldet werden können. Detaillierte Informationen finden Sie unter www.krebs-praedisposition.de.
    Note: Gesehen am 08.04.2020
    In: Der Pathologe, Berlin : Springer, 1994, 40(2019), 6, Seite 592-599, 1432-1963
    In: volume:40
    In: year:2019
    In: number:6
    In: pages:592-599
    In: extent:8
    Language: German
    DOI: 10.1007/s00292-019-00657-y
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  • 8
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    Response in a child with a BRAF V600E mutated desmoplastic infantile astrocytoma upon retreatment with vemurafenib (2018)
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    UID:
    (DE-627)1581360738
    Format: 4
    ISSN: 1545-5017
    Content: Infants with low-grade glioma (LGG) and diencephalic syndrome have a poor outcome. The patient described here had a desmoplastic infantile astrocytoma harboring a BRAF V600E mutation. After relapse following initial standard chemotherapy treatment, he was successfully treated with the BRAF V600E inhibitor vemurafenib at the age of 3 years 11 months and 5 years 0 months. A rapid response was observed on both occasions. This illustrates the possibility of continuous oncogenic addiction and the therapeutic potential of BRAF V600E inhibitor monotherapy in LGG, even in very young severely compromised children. BRAF V600E inhibition in LGG and possible (re-)treatment regimens are briefly discussed.
    Note: First published: 12 December 2017 , Gesehen am 27.09.2018
    In: Pediatric blood & cancer, New York, NY : Wiley, 2004, 65(2018), 3, Artikel-ID e26893, Seite 1-4, 1545-5017
    In: volume:65
    In: year:2018
    In: number:3
    In: elocationid:e26893
    In: pages:1-4
    In: extent:4
    Language: English
    DOI: 10.1002/pbc.26893
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  • 9
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    Intralabyrinthine schwannomas : surgical management and hearing rehabilitation with cochlear implants (2017)
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    UID:
    (DE-627)1663712468
    Format: Diagramme, Illustrationen
    ISSN: 1433-0458
    Content: Acoustic neuroma; Cochlea; Cochlear implant; Hearing loss; Vertigo
    In: HNO, Berlin : Springer, 1996, 65(2017), Supplement 2, Seite 136-148, 1433-0458
    In: volume:65
    In: year:2017
    In: month:Au
    In: supplement:Supplement 2
    In: pages:136-148
    Language: English
    DOI: 10.1007/s00106-017-0364-6
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  • 10
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    From sampling to sequencing : a liquid biopsy pre-analytic workflow to maximize multi-layer genomic information from a single tube (15)
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    UID:
    (DE-627)1765911788
    Format: 25
    ISSN: 2072-6694
    Content: Liquid biopsies hold great promise for the management of cancer. Reliable liquid biopsy data depend on stable and reproducible pre-analytical protocols that comply with quality measures, irrespective of the sampling and processing site. We established a workflow for plasma preservation, followed by processing, cell-free nucleic acid isolation, quantification, and enrichment of potentially tumor-derived cell-free DNA and RNA. Employing the same input material for a direct comparison of different kits and protocols allowed us to formulate unbiased recommendations for sample collection, storage, and processing. The presented workflow integrates the stabilization in Norgen, PAX, or Streck tubes and subsequent parallel isolation of cell-free DNA and RNA with NucleoSnap and NucleoSpin. Qubit, Bioanalyzer, and TapeStation quantification and quality control steps were optimized for minimal sample use and high sensitivity and reproducibility. We show the efficiency of the proposed workflow by successful droplet digital PCR amplification of both cell-free DNA and RNA and by detection of tumor-specific alterations in low-coverage whole-genome sequencing and DNA methylation profiling of plasma-derived cell-free DNA. For the first time, we demonstrated successful parallel extraction of cell-free DNA and RNA from plasma samples. This workflow paves the road towards multi-layer genomic analysis from one single liquid biopsy sample.
    Note: Gesehen am 06.08.2021
    In: Cancers, Basel : MDPI, 2009, 13(2021), 12, Artikel-ID 3002, Seite 1-25, 2072-6694
    In: volume:13
    In: year:2021
    In: number:12
    In: elocationid:3002
    In: pages:1-25
    In: extent:25
    Language: English
    DOI: 10.3390/cancers13123002
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