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  1. Article ; Online: Survey of prophylactic platelet transfusion practices in brain tumors patients among pediatric hematologists/oncologists in North America.

    Gorsi, Hamza S / Toll, Stephanie A / Chitlur, Meera

    Pediatric blood & cancer

    2022  Volume 70, Issue 1, Page(s) e29878

    MeSH term(s) Child ; Humans ; Platelet Transfusion ; Surveys and Questionnaires ; Hematology ; Oncologists ; Brain Neoplasms/therapy
    Language English
    Publishing date 2022-07-11
    Publishing country United States
    Document type Letter
    ZDB-ID 2131448-2
    ISSN 1545-5017 ; 1545-5009
    ISSN (online) 1545-5017
    ISSN 1545-5009
    DOI 10.1002/pbc.29878
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1131: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
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  2. Article: Exploring the Molecular Complexity of Medulloblastoma: Implications for Diagnosis and Treatment.

    Rechberger, Julian S / Toll, Stephanie A / Vanbilloen, Wouter J F / Daniels, David J / Khatua, Soumen

    Diagnostics (Basel, Switzerland)

    2023  Volume 13, Issue 14

    Abstract: Medulloblastoma is the most common malignant brain tumor in children. Over the last few decades, significant progress has been made in revealing the key molecular underpinnings of this disease, leading to the identification of distinct molecular ... ...

    Abstract Medulloblastoma is the most common malignant brain tumor in children. Over the last few decades, significant progress has been made in revealing the key molecular underpinnings of this disease, leading to the identification of distinct molecular subgroups with different clinical outcomes. In this review, we provide an update on the molecular landscape of medulloblastoma and treatment strategies. We discuss the four main molecular subgroups (WNT-activated, SHH-activated, and non-WNT/non-SHH groups 3 and 4), highlighting the key genetic alterations and signaling pathways associated with each entity. Furthermore, we explore the emerging role of epigenetic regulation in medulloblastoma and the mechanism of resistance to therapy. We also delve into the latest developments in targeted therapies and immunotherapies. Continuing collaborative efforts are needed to further unravel the complex molecular mechanisms and profile optimal treatment for this devastating disease.
    Language English
    Publishing date 2023-07-18
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2662336-5
    ISSN 2075-4418
    ISSN 2075-4418
    DOI 10.3390/diagnostics13142398
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  3. Article ; Online: Intracranial Germinoma in Two Caucasian American Siblings With Autism Spectrum Disorder.

    Toll, Stephanie A / Flore, Leigh Anne / Gorsi, Hamza S / Marupudi, Neena I / Mody, Swati / Kupsky, William / Wang, Zhihong Joanne

    Journal of pediatric hematology/oncology

    2024  Volume 46, Issue 2, Page(s) 106–111

    Abstract: Intracranial germ cell tumors (IGCTs) comprise 3% to 5% of all pediatric brain tumors in the West, with a significantly higher prevalence in Asia. Although these tumors are histologically diverse, repeated somatic variants have been demonstrated. ... ...

    Abstract Intracranial germ cell tumors (IGCTs) comprise 3% to 5% of all pediatric brain tumors in the West, with a significantly higher prevalence in Asia. Although these tumors are histologically diverse, repeated somatic variants have been demonstrated. Chromosomal aneuploidies, such as Klinefelter and Down syndromes, are associated with IGCTs, but no familial germline tumor syndromes are currently known. Here, we report the novel case of 2 American siblings with underlying autism spectrum disorder who developed intracranial germinoma within months of each other, in the absence of external risk factors. Extensive genetic testing was performed, including karyotyping, chromosomal microarray, and whole exome and whole genome sequencing, and did not identify any variants accounting for the phenotypes. Despite the absence of overlapping variants, a recent retrospective review demonstrated a threefold greater prevalence of autism spectrum disorder in patients with intracranial germinoma compared with national prevalence. This report highlights the complexity of tumor development, as well as the need for further research regarding IGCTs in a neurodivergent population.
    MeSH term(s) Child ; Humans ; Autism Spectrum Disorder/genetics ; Brain Neoplasms/genetics ; Brain Neoplasms/pathology ; Genetic Testing ; Germinoma/genetics ; Siblings
    Language English
    Publishing date 2024-01-29
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1231152-2
    ISSN 1536-3678 ; 1077-4114 ; 0192-8562
    ISSN (online) 1536-3678
    ISSN 1077-4114 ; 0192-8562
    DOI 10.1097/MPH.0000000000002821
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    Zs.A 1537: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    ab Jg. 2022: Lesesaal (EG)

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  4. Article: Advances in NK cell therapy for brain tumors.

    Fares, Jawad / Davis, Zachary B / Rechberger, Julian S / Toll, Stephanie A / Schwartz, Jonathan D / Daniels, David J / Miller, Jeffrey S / Khatua, Soumen

    NPJ precision oncology

    2023  Volume 7, Issue 1, Page(s) 17

    Abstract: Despite advances in treatment regimens that comprise surgery, chemotherapy, and radiation, outcome of many brain tumors remains dismal, more so when they recur. The proximity of brain tumors to delicate neural structures often precludes complete surgical ...

    Abstract Despite advances in treatment regimens that comprise surgery, chemotherapy, and radiation, outcome of many brain tumors remains dismal, more so when they recur. The proximity of brain tumors to delicate neural structures often precludes complete surgical resection. Toxicity and long-term side effects of systemic therapy remain a concern. Novel therapies are warranted. The field of NK cell-based cancer therapy has grown exponentially and currently constitutes a major area of immunotherapy innovation. This provides a new avenue for the treatment of cancerous lesions in the brain. In this review, we explore the mechanisms by which the brain tumor microenvironment suppresses NK cell mediated tumor control, and the methods being used to create NK cell products that subvert immune suppression. We discuss the pre-clinical studies evaluating NK cell-based immunotherapies that target several neuro-malignancies and highlight advances in molecular imaging of NK cells that allow monitoring of NK cell-based therapeutics. We review current and ongoing NK cell based clinical trials in neuro-oncology.
    Language English
    Publishing date 2023-02-15
    Publishing country England
    Document type Journal Article ; Review
    ISSN 2397-768X
    ISSN 2397-768X
    DOI 10.1038/s41698-023-00356-1
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  5. Article ; Online: Medulloblastoma epigenetics and the path to clinical innovation.

    Haltom, Amanda R / Toll, Stephanie A / Cheng, Donghang / Maegawa, Shinji / Gopalakrishnan, Vidya / Khatua, Soumen

    Journal of neuro-oncology

    2020  Volume 150, Issue 1, Page(s) 35–46

    Abstract: Introduction: In the last decade, a number of genomic and pharmacological studies have demonstrated the importance of epigenetic dysregulation in medulloblastoma initiation and progression. High throughput approaches including gene expression array, ... ...

    Abstract Introduction: In the last decade, a number of genomic and pharmacological studies have demonstrated the importance of epigenetic dysregulation in medulloblastoma initiation and progression. High throughput approaches including gene expression array, next-generation sequencing (NGS), and methylation profiling have now clearly identified at least four molecular subgroups within medulloblastoma, each with distinct clinical and prognostic characteristics. These studies have clearly shown that despite the overall paucity of mutations, clinically relevant events do occur within the cellular epigenetic machinery. Thus, this review aims to provide an overview of our current understanding of the spectrum of epi-oncogenetic perturbations in medulloblastoma.
    Methods: Comprehensive review of epigenetic profiles of different subgroups of medulloblastoma in the context of molecular features. Epigenetic regulation is mediated mainly by DNA methylation, histone modifications and microRNAs (miRNA). Importantly, epigenetic mis-events are reversible and have immense therapeutic potential.
    Conclusion: The widespread epigenetic alterations present in these tumors has generated intense interest in their use as therapeutic targets. We provide an assessment of the progress that has been made towards the development of molecular subtypes-targeted therapies and the current status of clinical trials that have leveraged these recent advances.
    MeSH term(s) Cerebellar Neoplasms/genetics ; Cerebellar Neoplasms/therapy ; DNA Methylation ; Epigenesis, Genetic ; Humans ; Medulloblastoma/genetics ; Medulloblastoma/therapy ; MicroRNAs/genetics
    Chemical Substances MicroRNAs
    Language English
    Publishing date 2020-08-20
    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/s11060-020-03591-9
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    Zs.A 1825: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    ab Jg. 2022: Lesesaal (EG)

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  6. Article ; Online: Addendum: Sustained response of three pediatric BRAFV600E mutated high-grade gliomas to combined BRAF and MEK inhibitor therapy.

    Toll, Stephanie A / Tran, Hung N / Cotter, Jennifer / Judkins, Alexander R / Tamrazi, Benita / Biegel, Jaclyn A / Dhall, Girish / Robison, Nathan J / Waters, Kaaren / Patel, Palak / Cooper, Robert / Margol, Ashley S

    Oncotarget

    2023  Volume 14, Page(s) 502

    Language English
    Publishing date 2023-05-19
    Publishing country United States
    Document type Published Erratum
    ZDB-ID 2560162-3
    ISSN 1949-2553 ; 1949-2553
    ISSN (online) 1949-2553
    ISSN 1949-2553
    DOI 10.18632/oncotarget.28445
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  7. Article ; Online: Ongoing Response in a Multiply Relapsed Metastatic Posterior Fossa Ependymoma A After Vorinostat and Concomitant Irradiation.

    Gorsi, Hamza S / Toll, Stephanie A / Sood, Sandeep / Miler, Steven / Altinok, Deniz / Kumar-Sinha, Chandan / Mody, Rajen / Yankelevich, Maxim

    Journal of pediatric hematology/oncology

    2021  Volume 44, Issue 2, Page(s) e576–e579

    Abstract: Posterior fossa ependymomas A confer the worst prognosis among all subtypes. They demonstrate distinct epigenetic changes, which can be targeted with epigenetic modifiers like histone deacetylase inhibitors (Vorinostat). We describe a 3-year-old male ... ...

    Abstract Posterior fossa ependymomas A confer the worst prognosis among all subtypes. They demonstrate distinct epigenetic changes, which can be targeted with epigenetic modifiers like histone deacetylase inhibitors (Vorinostat). We describe a 3-year-old male diagnosed with a posterior fossa ependymoma who had a number of recurrences requiring multimodal therapy. Molecular analysis demonstrated a BCL-6 corepressor mutation, and methylation profiling matched with posterior fossa ependymomas A. He received craniospinal irradiation and focal boost with Vorinostat. Serial imaging after irradiation revealed a progressively decreasing tumor burden with nearly complete resolution of disease at 15 months. Histone deacetylase inhibitors demonstrate promise in treatment of carefully selected cases of ependymoma.
    MeSH term(s) Child, Preschool ; Combined Modality Therapy ; Ependymoma/genetics ; Ependymoma/pathology ; Ependymoma/therapy ; Histone Deacetylase Inhibitors ; Humans ; Male ; Vorinostat/therapeutic use
    Chemical Substances Histone Deacetylase Inhibitors ; Vorinostat (58IFB293JI)
    Language English
    Publishing date 2021-04-30
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1231152-2
    ISSN 1536-3678 ; 1077-4114 ; 0192-8562
    ISSN (online) 1536-3678
    ISSN 1077-4114 ; 0192-8562
    DOI 10.1097/MPH.0000000000002175
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1537: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  8. Article ; Online: Novel Finding of Copy Number Gains in GNAS and Loss of 10q in a Child With Malignant Transformation of Neurocutaneous Melanosis Syndrome.

    Peterson, Catherine / Toll, Stephanie A / Kolb, Bradley / Poulik, Janet M / Reyes-Mugica, Miguel / Sood, Sandeep / Haridas, Abilash / Wang, Zhihong Joanne / Marupudi, Neena I

    JCO precision oncology

    2022  Volume 5, Page(s) 33–38

    MeSH term(s) Cell Transformation, Neoplastic/genetics ; Cell Transformation, Neoplastic/pathology ; Child ; Chromogranins/genetics ; Chromosome Deletion ; Chromosomes, Human, Pair 10 ; DNA Copy Number Variations ; Dexamethasone/therapeutic use ; GTP-Binding Protein alpha Subunits, Gs/genetics ; Humans ; Laminectomy ; Magnetic Resonance Imaging ; Male ; Melanosis/diagnostic imaging ; Melanosis/genetics ; Melanosis/pathology ; Melanosis/therapy ; Neurocutaneous Syndromes/diagnostic imaging ; Neurocutaneous Syndromes/genetics ; Neurocutaneous Syndromes/pathology ; Neurocutaneous Syndromes/therapy ; Pyridones/therapeutic use ; Pyrimidinones/therapeutic use
    Chemical Substances Chromogranins ; Pyridones ; Pyrimidinones ; trametinib (33E86K87QN) ; Dexamethasone (7S5I7G3JQL) ; GNAS protein, human (EC 3.6.1.-) ; GTP-Binding Protein alpha Subunits, Gs (EC 3.6.5.1)
    Language English
    Publishing date 2022-03-25
    Publishing country United States
    Document type Case Reports ; Journal Article
    ISSN 2473-4284
    ISSN (online) 2473-4284
    DOI 10.1200/PO.20.00244
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  9. Article ; Online: The relationship between ventricular volume and whole-brain irradiation dose in central nervous system germ cell tumors.

    Toll, Stephanie A / Jones, Marjorie T / Yoshida, Emi J / Dhall, Girish / Olch, Arthur J / Wong, Kenneth K

    Pediatric blood & cancer

    2019  Volume 66, Issue 12, Page(s) e28005

    Abstract: Background: Advanced irradiation techniques, including intensity-modulated radiation therapy (IMRT), aim to limit irradiation to adjoining tissues by conforming beams to a well-defined volume. In intracranial germinomas, whole-ventricular IMRT decreases ...

    Abstract Background: Advanced irradiation techniques, including intensity-modulated radiation therapy (IMRT), aim to limit irradiation to adjoining tissues by conforming beams to a well-defined volume. In intracranial germinomas, whole-ventricular IMRT decreases the volume of irradiation to surrounding parenchyma. This study examined the relationship between ventricular volume and radiation dose to surrounding tissue.
    Procedure: We retrospectively reviewed age, sex, ventricular and brain volume, ventricular dose, and volume of brain that received 12 Gy (V12) for patients diagnosed with germ cell tumors at our institution treated with whole-ventricular IMRT between 2002 and 2016. Variables were assessed for correlation and statistical significance.
    Results: Forty-seven patients were analyzed. The median whole-ventricular irradiation dose was 24 Gy with a median boost dose of 30 Gy. The median ventricular volume was 234.3 cm
    Conclusions: Although whole-ventricular IMRT limited irradiation to surrounding tissue in our cohort, a significant percentage of the brain received at least 12 Gy. This study suggests that there is a positive correlation between ventricular volume and the volume of brain parenchyma receiving at least 12 Gy with an important contribution from the boost phase of treatment.
    MeSH term(s) Adolescent ; Adult ; Central Nervous System Neoplasms/pathology ; Central Nervous System Neoplasms/radiotherapy ; Cerebral Ventricles/pathology ; Cerebral Ventricles/radiation effects ; Child ; Child, Preschool ; Cranial Irradiation/methods ; Female ; Follow-Up Studies ; Humans ; Male ; Neoplasms, Germ Cell and Embryonal/pathology ; Neoplasms, Germ Cell and Embryonal/radiotherapy ; Organs at Risk/radiation effects ; Prognosis ; Radiotherapy Dosage ; Radiotherapy Planning, Computer-Assisted/methods ; Radiotherapy, Intensity-Modulated/methods ; Retrospective Studies ; Young Adult
    Language English
    Publishing date 2019-09-18
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2131448-2
    ISSN 1545-5017 ; 1545-5009
    ISSN (online) 1545-5017
    ISSN 1545-5009
    DOI 10.1002/pbc.28005
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    Zs.A 1131: Show issues Location:
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  10. Article ; Online: Sustained response of three pediatric BRAF

    Toll, Stephanie A / Tran, Hung N / Cotter, Jennifer / Judkins, Alexander R / Tamrazi, Benita / Biegel, Jaclyn A / Dhall, Girish / Robison, Nathan J / Waters, Kaaren / Patel, Palak / Cooper, Robert / Margol, Ashley S

    Oncotarget

    2019  Volume 10, Issue 4, Page(s) 551–557

    Abstract: Outcomes for children with high-grade gliomas (HGG) remain dismal despite aggressive treatment strategies. The use of targeted therapy for ... ...

    Abstract Outcomes for children with high-grade gliomas (HGG) remain dismal despite aggressive treatment strategies. The use of targeted therapy for BRAF
    Language English
    Publishing date 2019-01-11
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2560162-3
    ISSN 1949-2553 ; 1949-2553
    ISSN (online) 1949-2553
    ISSN 1949-2553
    DOI 10.18632/oncotarget.26560
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