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  1. Article: SWI/SNF-deficient tumors of the central nervous system: An update.

    Hasselblatt, Martin / Kool, Marcel / Frühwald, Michael C

    Clinical neuropathology

    2023  Volume 43, Issue 1, Page(s) 2–9

    Abstract: Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant tumor of the central nervous system characterized by biallelic inactivation of SWI/SNF chromatin remodeling complex members SMARCB1/INI1 or (rarely) SMARCA4/BRG1. Most high-grade central ... ...

    Abstract Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant tumor of the central nervous system characterized by biallelic inactivation of SWI/SNF chromatin remodeling complex members SMARCB1/INI1 or (rarely) SMARCA4/BRG1. Most high-grade central nervous system lesions showing loss of nuclear SMARCB1 or SMARCA4 protein expression can indeed be categorized as AT/RT. However, some high-grade lesions have been identified, whose clinical and/or molecular features justify separation from AT/RT. Furthermore, other recently described tumor types such as desmoplastic myxoid tumor, SMARCB1-mutant, and low-grade diffusely infiltrative tumor, SMARCB1-mutant, may even manifest as low-grade lesions. Here, we review recent developments in the definition of the molecular landscape of AT/RT and give an update on other rare high- and low-grade SWI/SNF-deficient central nervous system tumors.
    MeSH term(s) Humans ; SMARCB1 Protein/genetics ; Rhabdoid Tumor/genetics ; Rhabdoid Tumor/pathology ; Neoplasms, Neuroepithelial ; Central Nervous System/pathology ; DNA Helicases/genetics ; Nuclear Proteins/genetics ; Transcription Factors/genetics
    Chemical Substances SMARCB1 Protein ; SMARCA4 protein, human (EC 3.6.1.-) ; DNA Helicases (EC 3.6.4.-) ; Nuclear Proteins ; Transcription Factors
    Language English
    Publishing date 2023-11-16
    Publishing country Germany
    Document type Review ; Journal Article
    ZDB-ID 603167-5
    ISSN 0722-5091
    ISSN 0722-5091
    DOI 10.5414/NP301594
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1745: Show issues Location:
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  2. Book ; Thesis: Endothelinrezeptor-vermittelte Regulation extrazellulärer Endothelin-1-Spiegel in primären Astrocytenkulturen der Ratte

    Hasselblatt, Martin

    1997  

    Author's details vorgelegt von Martin Hasselblatt
    Language German
    Size VIII, 69 Bl. : Ill., graph. Darst.
    Edition [Mikrofiche-Ausg.]
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Göttingen, Univ., Diss., 1997
    HBZ-ID HT012864773
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2000 MB 615 order for loan Magazin

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  3. Article: Current Molecular and Clinical Landscape of ATRT - The Link to Future Therapies.

    Gastberger, Katharina / Fincke, Victoria E / Mucha, Marlena / Siebert, Reiner / Hasselblatt, Martin / Frühwald, Michael C

    Cancer management and research

    2023  Volume 15, Page(s) 1369–1393

    Abstract: ATRT is a highly aggressive and rare pediatric CNS tumor of very young children. Its genetic hallmark is bi-allelic inactivation ... ...

    Abstract ATRT is a highly aggressive and rare pediatric CNS tumor of very young children. Its genetic hallmark is bi-allelic inactivation of
    Language English
    Publishing date 2023-12-07
    Publishing country New Zealand
    Document type Journal Article ; Review
    ZDB-ID 2508013-1
    ISSN 1179-1322
    ISSN 1179-1322
    DOI 10.2147/CMAR.S379451
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Radiation Therapy Plays an Important Role in the Treatment of Atypical Teratoid/Rhabdoid Tumors: Analysis of the EU-RHAB Cohorts and Their Precursors.

    Frisch, Sabine / Libuschewski, Hanna / Peters, Sarah / Gerß, Joachim / von Hoff, Katja / Kortmann, Rolf-Dieter / Nemes, Karolina / Rutkowski, Stefan / Hasselblatt, Martin / Pietsch, Torsten / Frühwald, Michael C / Timmermann, Beate

    International journal of radiation oncology, biology, physics

    2024  

    Abstract: Purpose: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare malignancy of the central nervous system in young children with a dismal prognosis. Prognostic markers have been extensively investigated but have not been validated. The role of radiation ... ...

    Abstract Purpose: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare malignancy of the central nervous system in young children with a dismal prognosis. Prognostic markers have been extensively investigated but have not been validated. The role of radiation therapy (RT) remains controversial. We evaluated the impact of RT as part of multimodality treatment by analyzing data of a European AT/RT cohort.
    Methods and materials: We retrospectively analyzed data of the European Registry for Rhabdoid Tumors and its precursors. Primary endpoints were progression-free survival (PFS) and overall survival (OS). Potential impact of prognostic factors was analyzed using univariable and multivariable Cox regression analyses with RT as a time-dependent factor.
    Results: Data of 186 children (118 male, 68 female) treated from 1990 to 2016 were evaluable. The median age at diagnosis was 1.57 years (range, 0.01-26.70 years); 47% (87/186) of the patients were under the age of 18 months. Sixty-nine percent (128/186) received RT (focal RT, n = 93; craniospinal treatment with local boost, n = 34; spinal irradiation, n = 1). The median follow-up duration of the entire cohort was 1.73 years (range, 0.06-20.11 years). The estimated PFS and OS rates were 48% (95% CI, 41%-55%) and 72% (95% CI, 65%-78%) at 1 year and 33% (95% CI, 26%-40%) and 49% (95% CI, 41%-56%) at 2 years, respectively. On multivariable analysis, RT was an independent significant prognostic factor for PFS (hazard ratio, 0.45; 95% CI, 0.27-0.75; P = .002) and OS (hazard ratio, 0.54; 95% CI, 0.32-0.93; P = .025).
    Conclusions: This analysis confirms the relevance of local therapies. RT was an independent prognostic factor for outcomes in children experiencing AT/RT. However, long-term sequelae have to be carefully evaluated and considered given the young age at time of RT.
    Language English
    Publishing date 2024-01-19
    Publishing country United States
    Document type Journal Article
    ZDB-ID 197614-x
    ISSN 1879-355X ; 0360-3016
    ISSN (online) 1879-355X
    ISSN 0360-3016
    DOI 10.1016/j.ijrobp.2024.01.200
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    Zs.A 1218: Show issues Location:
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  5. Article: Ependymal tumors.

    Hasselblatt, Martin

    Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer

    2009  Volume 171, Page(s) 51–66

    Abstract: Ependymomas represent a heterogeneous group of glial tumors whose biological behavior depends on various histological, molecular, and clinical variables. The scope of this chapter is to review the clinical and histo-logical features as well as the ... ...

    Abstract Ependymomas represent a heterogeneous group of glial tumors whose biological behavior depends on various histological, molecular, and clinical variables. The scope of this chapter is to review the clinical and histo-logical features as well as the molecular genetics of ependymomas with special emphasis on their influence on tumor recurrence and prognosis. Furthermore, potential molecular targets for therapy are outlined.
    MeSH term(s) Brain Neoplasms/epidemiology ; Brain Neoplasms/genetics ; Brain Neoplasms/pathology ; Brain Neoplasms/therapy ; Ependymoma/epidemiology ; Ependymoma/genetics ; Ependymoma/pathology ; Ependymoma/therapy ; Humans ; Immunohistochemistry ; Prognosis
    Language English
    Publishing date 2009
    Publishing country Germany
    Document type Journal Article ; Review
    ISSN 0080-0015
    ISSN 0080-0015
    DOI 10.1007/978-3-540-31206-2_3
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  6. Article ; Online: Epigenetics impacts upon prognosis and clinical management of choroid plexus tumors.

    Thomas, Christian / Metrock, Katie / Kordes, Uwe / Hasselblatt, Martin / Dhall, Girish

    Journal of neuro-oncology

    2020  Volume 148, Issue 1, Page(s) 39–45

    Abstract: Purpose: Choroid plexus tumors comprise of choroid plexus papilloma (CPP, WHO grade I), atypical choroid plexus papilloma (aCPP, WHO grade II) and choroid plexus carcinoma (CPC, WHO grade III). Molecular events driving the majority of choroid plexus ... ...

    Abstract Purpose: Choroid plexus tumors comprise of choroid plexus papilloma (CPP, WHO grade I), atypical choroid plexus papilloma (aCPP, WHO grade II) and choroid plexus carcinoma (CPC, WHO grade III). Molecular events driving the majority of choroid plexus tumors remain poorly understood. Recently, DNA methylation profiling has revealed different epigenetic subgroups.
    Methods: Comprehensive review of epigenetic profiles of choroid plexus tumors in the context of histopathological, genetic, and clinical features. DNA methylation profiling segregates choroid plexus tumors into three distinct epigenetic subgroups: supratentorial pediatric low-risk choroid plexus tumors (CPP and aCPP), infratentorial adult low-risk choroid plexus tumors (CPP and aCPP), and supratentorial pediatric high-risk choroid plexus tumors (CPP and aCPP and CPC). Epigenetic subgrouping provides additional prognostic information in comparison to histopathological grading.
    Conclusions: Epigenetic profiling of choroid plexus tumors can be used for the identification of patients at risk of recurrence and is expected to play a role for treatment stratification and patient management in the context of future clinical trials.
    MeSH term(s) Choroid Plexus Neoplasms/diagnosis ; Choroid Plexus Neoplasms/genetics ; Choroid Plexus Neoplasms/therapy ; DNA Methylation ; Epigenesis, Genetic ; Humans ; Prognosis
    Language English
    Publishing date 2020-04-28
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 604875-4
    ISSN 1573-7373 ; 0167-594X
    ISSN (online) 1573-7373
    ISSN 0167-594X
    DOI 10.1007/s11060-020-03509-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1825: Show issues Location:
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  7. Article ; Online: Spatial molecular profiling of a central nervous system low-grade diffusely infiltrative tumour with INI1 deficiency featuring a high-grade atypical teratoid/rhabdoid tumour component.

    Dottermusch, Matthias / Schumann, Yannis / Kordes, Uwe / Hasselblatt, Martin / Neumann, Julia E

    Neuropathology and applied neurobiology

    2021  Volume 48, Issue 3, Page(s) e12777

    Abstract: We performed spatial epigenetic and transcriptomic analyses of a highly unusual low-grade diffusely infiltrative tumour with INI1 deficiency (CNS LGDIT-INI1), which harboured a high-grade component corresponding to an atypical teratoid/rhabdoid tumour ( ... ...

    Abstract We performed spatial epigenetic and transcriptomic analyses of a highly unusual low-grade diffusely infiltrative tumour with INI1 deficiency (CNS LGDIT-INI1), which harboured a high-grade component corresponding to an atypical teratoid/rhabdoid tumour (AT/RT). Methylation profiles of both low-grade and high-grade components yielded high similarity with AT/RTs of the MYC subgroup, whereas RNA expression analyses revealed increased translational activity and MYC pathway activation in the high-grade component. Close follow-up of patients harbouring CNS LGDIT-INI1 is warranted.
    MeSH term(s) Central Nervous System/pathology ; Central Nervous System Neoplasms/genetics ; Central Nervous System Neoplasms/pathology ; Humans ; Rhabdoid Tumor/metabolism ; SMARCB1 Protein/genetics ; Teratoma/genetics ; Teratoma/metabolism
    Chemical Substances SMARCB1 Protein
    Language English
    Publishing date 2021-12-02
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80371-6
    ISSN 1365-2990 ; 0305-1846
    ISSN (online) 1365-2990
    ISSN 0305-1846
    DOI 10.1111/nan.12777
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    Zs.A 1241: Show issues Location:
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  8. Article ; Online: DNA methylation profiling of central nervous system hemangioblastomas identifies two distinct subgroups.

    Woltering, Niklas / Albers, Anne / Müther, Michael / Stummer, Walter / Paulus, Werner / Hasselblatt, Martin / Holling, Markus / Thomas, Christian

    Brain pathology (Zurich, Switzerland)

    2022  Volume 32, Issue 6, Page(s) e13083

    Abstract: Hemangioblastomas (HBs) of the central nervous system are highly vascular neoplasms that occur sporadically or as a manifestation of von Hippel-Lindau (VHL) disease. Despite their benign nature, HBs are clinically heterogeneous and can be associated with ...

    Abstract Hemangioblastomas (HBs) of the central nervous system are highly vascular neoplasms that occur sporadically or as a manifestation of von Hippel-Lindau (VHL) disease. Despite their benign nature, HBs are clinically heterogeneous and can be associated with significant morbidity due to mass effects of peritumoral cysts or tumor progression. Underlying molecular factors involved in HB tumor biology remain elusive. We investigated genome-wide DNA methylation profiles and clinical and histopathological features in a series of 47 HBs from 42 patients, including 28 individuals with VHL disease. Thirty tumors occurred in the cerebellum, 8 in the brainstem and 8 HBs were of spinal location, while 1 HB was located in the cerebrum. Histologically, 12 HBs (26%) belonged to the cellular subtype and exclusively occurred in the cerebellum, whereas 35 HBs were reticular (74%). Unsupervised clustering and dimensionality reduction of DNA methylation profiles revealed two distinct subgroups. Methylation cluster 1 comprised 30 HBs of mainly cerebellar location (29/30, 97%), whereas methylation cluster 2 contained 17 HBs predominantly located in non-cerebellar compartments (16/17, 94%). The sum of chromosomal regions being affected by copy-number alterations was significantly higher in methylation cluster 1 compared to cluster 2 (mean 262 vs. 109 Mb, p = 0.001). Of note, loss of chromosome 6 occurred in 9/30 tumors (30%) of methylation cluster 1 and was not observed in cluster 2 tumors (p = 0.01). No relevant methylation differences between sporadic and VHL-related HBs or cystic and non-cystic HBs could be detected. Deconvolution of the bulk DNA methylation profiles revealed four methylation components that were associated with the two methylation clusters suggesting cluster-specific cell-type compositions. In conclusion, methylation profiling of HBs reveals 2 distinct subgroups that mainly associate with anatomical location, cytogenetic profiles and differences in cell type composition, potentially reflecting different cells of origin.
    MeSH term(s) Humans ; Hemangioblastoma/genetics ; DNA Methylation ; von Hippel-Lindau Disease/complications ; von Hippel-Lindau Disease/genetics ; von Hippel-Lindau Disease/pathology ; Central Nervous System Neoplasms/genetics ; Central Nervous System Neoplasms/complications ; Cerebellum/pathology ; Cerebellar Neoplasms/pathology
    Language English
    Publishing date 2022-05-30
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1051484-3
    ISSN 1750-3639 ; 1015-6305
    ISSN (online) 1750-3639
    ISSN 1015-6305
    DOI 10.1111/bpa.13083
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    Zs.A 3585: Show issues Location:
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  9. Article ; Online: Analysis of a pituitary tumour with histological features of central neurocytoma points towards the emergence of a new entity recognizable by a specific epigenetic signature.

    Godfraind, Catherine / Coutelier, Marie / Pissaloux, Daniel / Forest, Fabien / Vandenbos, Fanny / Hasselblatt, Martin / Boutonnat, Jean / Coste, Aurélien / Lantuejoul, Sylvie / Mc Leer, Anne

    Neuropathology and applied neurobiology

    2023  , Page(s) e12948

    Language English
    Publishing date 2023-12-19
    Publishing country England
    Document type Journal Article
    ZDB-ID 80371-6
    ISSN 1365-2990 ; 0305-1846
    ISSN (online) 1365-2990
    ISSN 0305-1846
    DOI 10.1111/nan.12948
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    Zs.A 1241: Show issues Location:
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  10. Article: Aneurysm size.

    Hasselblatt, Martin

    Journal of neurosurgery

    2004  Volume 100, Issue 3, Page(s) 574; author reply 574

    MeSH term(s) Acute Disease ; Aneurysm, Ruptured/complications ; Aneurysm, Ruptured/pathology ; Humans ; Intracranial Aneurysm/complications ; Intracranial Aneurysm/pathology ; Retrospective Studies ; Subarachnoid Hemorrhage/etiology
    Language English
    Publishing date 2004-03
    Publishing country United States
    Document type Comment ; Letter
    ZDB-ID 3089-2
    ISSN 1933-0693 ; 0022-3085
    ISSN (online) 1933-0693
    ISSN 0022-3085
    DOI 10.3171/jns.2004.100.3.0574
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