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  1. Article: Cystic meningioangiomatosis and cerebellar ependymoma in a child with neurofibromatosis type 2.

    Wheeler, Austin / Metrock, Katie / Li, Rong / Singh, Sumit

    Radiology case reports

    2022  Volume 17, Issue 4, Page(s) 1082–1087

    Abstract: We report a case of multifocal cystic meningioangiomatosis (MA), an exceptionally uncommon diagnosis even in patients with type 2 neurofibromatosis (NF2). A 2-year-old male with personal as well as family history of genetically-confirmed NF2 presented ... ...

    Abstract We report a case of multifocal cystic meningioangiomatosis (MA), an exceptionally uncommon diagnosis even in patients with type 2 neurofibromatosis (NF2). A 2-year-old male with personal as well as family history of genetically-confirmed NF2 presented with incidental findings of MA after imaging for closed-head injury. Computed tomography and magnetic resonance imaging revealed multifocal subcortical and basal ganglia cysts, enhancing tumor-like vascular encasement, and a cerebellar ependymoma with atypical features. Given the paucity of available literature describing this pathology, imaging findings are discussed to further characterize this elusive disease. Radiologists must keep in mind that children with NF2 may not only present with MA, but also a constellation of MA with classic NF tumors, including ependymoma as in this case.
    Language English
    Publishing date 2022-02-03
    Publishing country Netherlands
    Document type Case Reports
    ZDB-ID 2406300-9
    ISSN 1930-0433
    ISSN 1930-0433
    DOI 10.1016/j.radcr.2022.01.050
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. 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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  3. Article ; Online: Response assessment in paediatric intracranial ependymoma: recommendations from the Response Assessment in Pediatric Neuro-Oncology (RAPNO) working group.

    Lindsay, Holly B / Massimino, Maura / Avula, Shivaram / Stivaros, Stavros / Grundy, Richard / Metrock, Katie / Bhatia, Aashim / Fernández-Teijeiro, Ana / Chiapparini, Luisa / Bennett, Jeffrey / Wright, Karen / Hoffman, Lindsey M / Smith, Amy / Pajtler, Kristian W / Poussaint, Tina Young / Warren, Katherine E / Foreman, Nicholas K / Mirsky, David M

    The Lancet. Oncology

    2022  Volume 23, Issue 8, Page(s) e393–e401

    Abstract: Response criteria for paediatric intracranial ependymoma vary historically and across different international cooperative groups. The Response Assessment in the Pediatric Neuro-Oncology (RAPNO) working group, consisting of an international panel of ... ...

    Abstract Response criteria for paediatric intracranial ependymoma vary historically and across different international cooperative groups. The Response Assessment in the Pediatric Neuro-Oncology (RAPNO) working group, consisting of an international panel of paediatric and adult neuro-oncologists, neuro-radiologists, radiation oncologists, and neurosurgeons, was established to address both the issues and the unique challenges in assessing the response in children with CNS tumours. We established a subcommittee to develop response assessment criteria for paediatric ependymoma. Current practice and literature were reviewed to identify major challenges in assessing the response of paediatric ependymoma to clinical trial therapy. For areas in which data were scarce or unavailable, consensus was reached through an iterative process. RAPNO response assessment recommendations include assessing disease response on the basis of changes in tumour volume, and using event-free survival as a study endpoint for patients entering clinical trials without bulky disease. Our recommendations for response assessment include the use of brain and spine MRI, cerebral spinal fluid cytology, neurological examination, and steroid use. Baseline postoperative imaging to assess for residual tumour should be obtained 24-48 h after surgery. Our consensus recommendations and response definitions should be prospectively validated in clinical trials.
    MeSH term(s) Adult ; Brain Neoplasms/diagnostic imaging ; Brain Neoplasms/therapy ; Central Nervous System Neoplasms/pathology ; Child ; Ependymoma/diagnostic imaging ; Ependymoma/therapy ; Humans ; Magnetic Resonance Imaging
    Language English
    Publishing date 2022-07-25
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2049730-1
    ISSN 1474-5488 ; 1470-2045
    ISSN (online) 1474-5488
    ISSN 1470-2045
    DOI 10.1016/S1470-2045(22)00222-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Subsequent Neoplasms After a Primary Tumor in Individuals With Neurofibromatosis Type 1.

    Bhatia, Smita / Chen, Yanjun / Wong, F Lennie / Hageman, Lindsey / Smith, Kandice / Korf, Bruce / Cannon, Ashley / Leidy, Daniel J / Paz, Alejandro / Andress, Joseph E / Friedman, Gregory K / Metrock, Katie / Neglia, Joseph P / Arnold, Michael / Turcotte, Lucie M / de Blank, Peter / Leisenring, Wendy / Armstrong, Gregory T / Robison, Leslie L /
    Clapp, D Wade / Shannon, Kevin / Nakamura, Jean L / Fisher, Michael J

    Journal of clinical oncology : official journal of the American Society of Clinical Oncology

    2019  Volume 37, Issue 32, Page(s) 3050–3058

    Abstract: Purpose: Fundamental gaps in knowledge regarding the risk of subsequent neoplasms (SNs) in children with pathogenic neurofibromatosis type 1 (NF1) variants exposed to radiation and/or alkylator chemotherapy have limited the use of these agents.: ... ...

    Abstract Purpose: Fundamental gaps in knowledge regarding the risk of subsequent neoplasms (SNs) in children with pathogenic neurofibromatosis type 1 (NF1) variants exposed to radiation and/or alkylator chemotherapy have limited the use of these agents.
    Methods: We addressed these gaps by determining the SN risk in 167 NF1-affected versus 1,541 non-NF1-affected 5-year childhood cancer survivors from the Childhood Cancer Survivor Study and 176 nonoverlapping NF1-affected individuals with primary tumors from University of Alabama at Birmingham and Children's Hospital of Philadelphia exposed to radiation and/or chemotherapy. Proportional subdistribution hazards multivariable regression analysis was used to examine risk factors, adjusting for type and age at primary tumor diagnosis and therapeutic exposures.
    Results: In the Childhood Cancer Survivor Study cohort, the 20-year cumulative incidence of SNs in NF1 childhood cancer survivors was 7.3%, compared with 2.9% in the non-NF1 childhood cancer survivors (
    Conclusion: Children with NF1 who develop a primary tumor are at increased risk of SN when compared with non-NF1 childhood cancer survivors. Among NF1-affected children with a primary tumor, therapeutic radiation, but not alkylating agents, confer an increased risk of SNs. These findings can inform evidence-based clinical management of primary tumors in NF1-affected children.
    MeSH term(s) Adolescent ; Adult ; Cancer Survivors/statistics & numerical data ; Child ; Child, Preschool ; Cohort Studies ; Female ; Humans ; Incidence ; Longitudinal Studies ; Male ; Neoplasms/epidemiology ; Neurofibromatosis 1/epidemiology ; Proportional Hazards Models ; Retrospective Studies ; Risk ; United States/epidemiology ; Young Adult
    Language English
    Publishing date 2019-09-18
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 604914-x
    ISSN 1527-7755 ; 0732-183X
    ISSN (online) 1527-7755
    ISSN 0732-183X
    DOI 10.1200/JCO.19.00114
    Database MEDical Literature Analysis and Retrieval System OnLINE

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