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  1. Article ; Online: SMARCAL1: Expanding the spectrum of genes associated with alternative lengthening of telomeres.

    Ida, Cristiane M / Jenkins, Robert B

    Neuro-oncology

    2023  Volume 25, Issue 9, Page(s) 1576–1577

    MeSH term(s) Humans ; Telomerase/genetics ; Glioblastoma ; Telomere/genetics ; Telomere/metabolism ; Mutation ; Carcinogenesis ; DNA Helicases/genetics ; DNA Helicases/metabolism
    Chemical Substances Telomerase (EC 2.7.7.49) ; SMARCAL1 protein, human (EC 2.7.7.-) ; DNA Helicases (EC 3.6.4.-)
    Language English
    Publishing date 2023-04-27
    Publishing country England
    Document type Editorial ; Comment
    ZDB-ID 2028601-6
    ISSN 1523-5866 ; 1522-8517
    ISSN (online) 1523-5866
    ISSN 1522-8517
    DOI 10.1093/neuonc/noad084
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  2. Article ; Online: Editorial commentary on "Analysis of IDH mutation, 1p19q deletion, and PTEN loss delineates prognosis in clinical low-grade gliomas".

    Jenkins, Robert B

    Neuro-oncology

    2014  Volume 16, Issue 7, Page(s) 891–892

    MeSH term(s) Biomarkers, Tumor/genetics ; Brain Neoplasms/genetics ; Brain Neoplasms/pathology ; Female ; Glioma/genetics ; Glioma/pathology ; Humans ; Male
    Chemical Substances Biomarkers, Tumor
    Language English
    Publishing date 2014-05-25
    Publishing country England
    Document type Editorial ; Comment
    ZDB-ID 2028601-6
    ISSN 1523-5866 ; 1522-8517
    ISSN (online) 1523-5866
    ISSN 1522-8517
    DOI 10.1093/neuonc/nou100
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  3. Article ; Online: Glioma: interaction of acquired and germline genetics.

    Eckel-Passow, Jeanette E / Lachance, Daniel H / Jenkins, Robert B

    Aging

    2021  Volume 13, Issue 15, Page(s) 19085–19087

    MeSH term(s) Brain Neoplasms/genetics ; Brain Neoplasms/pathology ; Cellular Senescence ; Germ-Line Mutation ; Glioma/genetics ; Glioma/pathology ; Humans
    Language English
    Publishing date 2021-08-12
    Publishing country United States
    Document type Editorial ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ISSN 1945-4589
    ISSN (online) 1945-4589
    DOI 10.18632/aging.203428
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  4. Article: Case report: Radiographic complete response of radiation-induced glioblastoma to front-line radiotherapy: A report and molecular characterization of two unique cases.

    Grogan, Patrick T / Helgager, Jeffrey J / Deming, Dustin A / Howard, Steven P / Jenkins, Robert B / Robins, H Ian

    Frontiers in neurology

    2023  Volume 14, Page(s) 1099424

    Abstract: Radiation-induced gliomas (RIGs) are an uncommon disease type and a known long-term complication of prior central nervous system radiation exposure, often during childhood. Given the rarity of this malignancy subtype, no clinical trials have explored ... ...

    Abstract Radiation-induced gliomas (RIGs) are an uncommon disease type and a known long-term complication of prior central nervous system radiation exposure, often during childhood. Given the rarity of this malignancy subtype, no clinical trials have explored optimal therapy for these patients, and the literature is primarily limited to reports of patient cases and series. Indeed, the genomic profiles of RIGs have only recently been explored in limited numbers, categorizing these gliomas into a unique subset. Here, we describe two cases of RIG diagnosed as glioblastoma (GB), IDH-wildtype, in adults who had previously received central nervous system radiation for childhood cancers. Both patients demonstrated a surprising complete radiographic response of the postoperative residual disease to front-line therapy, a phenomenon rarely observed in the management of any GB and never previously reported for the radiation-induced subgroup. Both tumors were characterized by next-generation sequencing and chromosomal microarray to identify potential etiologies for this response as well as to further add to the limited literature about the unique molecular profile of RIGs, showing signatures more consistent with diffuse pediatric-type high-grade glioma,
    Language English
    Publishing date 2023-03-21
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2023.1099424
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  5. Article ; Online: Diffuse hemispheric glioma with H3-3B G34R mutation: Expanding the spectrum of histone H3 genes in diffuse hemispheric glioma, H3 G34-mutant.

    Nazem, Amir / Lavezo, Jonathan / Abdullaev, Zied / Aldape, Kenneth / Quezado, Martha / Cimino, Patrick Joseph / Pratt, Drew W / Jenkins, Robert B / Ida, Cristiane M

    Journal of neuropathology and experimental neurology

    2023  Volume 83, Issue 1, Page(s) 58–60

    MeSH term(s) Humans ; Histones/genetics ; Glioma/genetics ; Mutation/genetics ; Brain Neoplasms/genetics
    Chemical Substances Histones
    Language English
    Publishing date 2023-10-24
    Publishing country England
    Document type Letter
    ZDB-ID 3088-0
    ISSN 1554-6578 ; 0022-3069
    ISSN (online) 1554-6578
    ISSN 0022-3069
    DOI 10.1093/jnen/nlad089
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  6. Article: Genome-wide Polygenic Risk Scores Predict Risk of Glioma and Molecular Subtypes.

    Nakase, Taishi / Guerra, Geno / Ostrom, Quinn T / Ge, Tian / Melin, Beatrice / Wrensch, Margaret / Wiencke, John K / Jenkins, Robert B / Eckel-Passow, Jeanette E / Bondy, Melissa L / Francis, Stephen S / Kachuri, Linda

    medRxiv : the preprint server for health sciences

    2024  

    Abstract: Background: Polygenic risk scores (PRS) aggregate the contribution of many risk variants to provide a personalized genetic susceptibility profile. Since sample sizes of glioma genome-wide association studies (GWAS) remain modest, there is a need to find ...

    Abstract Background: Polygenic risk scores (PRS) aggregate the contribution of many risk variants to provide a personalized genetic susceptibility profile. Since sample sizes of glioma genome-wide association studies (GWAS) remain modest, there is a need to find efficient ways of capturing genetic risk factors using available germline data.
    Methods: We developed a novel PRS (PRS-CS) that uses continuous shrinkage priors to model the joint effects of over 1 million polymorphisms on disease risk and compared it to an approach (PRS-CT) that selects a limited set of independent variants that reach genome-wide significance (P<5×10
    Results: PRS-CS was consistently more predictive than PRS-CT across glioma subtypes with an average increase in explained variance (R
    Conclusions: Our novel genome-wide PRS may improve the identification of high-risk individuals and help distinguish between prognostic glioma subtypes, increasing the potential clinical utility of germline genetics in glioma patient management.
    Language English
    Publishing date 2024-01-11
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.01.10.24301112
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  7. Article ; Online: Ganglioglioma with anaplastic/high-grade transformation: Histopathologic, molecular, and epigenetic characterization of 3 cases.

    Vizcaino, M Adelita / Giannini, Caterina / Lalich, Daniel / Nael, Ali / Jenkins, Robert B / Tran, Quynh / Orr, Brent A / Abdullaev, Zied / Aldape, Kenneth / Vaubel, Rachael A

    Journal of neuropathology and experimental neurology

    2024  

    Abstract: Ganglioglioma (GG) with anaplasia (anaplastic ganglioglioma) is a rare and controversial diagnosis. When present, anaplasia involves the glial component of the tumor, either at presentation or at recurrence. To date, most published cases lack molecular ... ...

    Abstract Ganglioglioma (GG) with anaplasia (anaplastic ganglioglioma) is a rare and controversial diagnosis. When present, anaplasia involves the glial component of the tumor, either at presentation or at recurrence. To date, most published cases lack molecular characterization. We describe the histologic and molecular features of 3 patients presenting with BRAF p. V600E-mutant GG (CNS WHO grade 1) with high-grade glial transformation at recurrence. The tumors occurred in pediatric patients (age 9-16 years) with time to recurrence from 20 months to 7 years. At presentation, each tumor was low-grade, with a BRAFV600E-positive ganglion cell component and a glial component resembling pleomorphic xanthoastrocytoma (PXA) or fibrillary astrocytoma. At recurrence, tumors resembled anaplastic PXA or high-grade astrocytomas without neuronal differentiation. CDKN2A homozygous deletion (HD) was absent in all primary tumors. At recurrence, 2 cases acquired CDKN2A HD; the third case showed loss of p16 and MTAP immunoexpression, but no CDKN2A/B HD or mutation was identified. By DNA methylation profiling, all primary and recurrent tumors either grouped or definitely matched to different methylation classes. Our findings indicate that malignant progression of the glial component can occur in GG and suggest that CDKN2A/B inactivation plays a significant role in this process.
    Language English
    Publishing date 2024-05-02
    Publishing country England
    Document type Journal Article
    ZDB-ID 3088-0
    ISSN 1554-6578 ; 0022-3069
    ISSN (online) 1554-6578
    ISSN 0022-3069
    DOI 10.1093/jnen/nlae038
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  8. Article ; Online: Mutations of FH and IDH may induce gliomagenesis by similar mechanisms.

    Raghunathan, Aditya / Ida, Cristiane M / Westbroek, Erick M / Gupta, Sounak / Jenkins, Robert B / Giannini, Caterina / Aldape, Kenneth D

    Journal of neuropathology and experimental neurology

    2022  Volume 82, Issue 1, Page(s) 99–100

    MeSH term(s) Humans ; Brain Neoplasms/genetics ; Fumarate Hydratase/genetics ; Glioma/genetics ; Isocitrate Dehydrogenase/genetics ; Mutation
    Chemical Substances Fumarate Hydratase (EC 4.2.1.2) ; Isocitrate Dehydrogenase (EC 1.1.1.41)
    Language English
    Publishing date 2022-11-09
    Publishing country England
    Document type Case Reports ; Letter
    ZDB-ID 3088-0
    ISSN 1554-6578 ; 0022-3069
    ISSN (online) 1554-6578
    ISSN 0022-3069
    DOI 10.1093/jnen/nlac107
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  9. Article ; Online: Translational significance of CDKN2A/B homozygous deletion in isocitrate dehydrogenase-mutant astrocytoma.

    Fortin Ensign, Shannon P / Jenkins, Robert B / Giannini, Caterina / Sarkaria, Jann N / Galanis, Evanthia / Kizilbash, Sani H

    Neuro-oncology

    2022  Volume 25, Issue 1, Page(s) 28–36

    Abstract: Isocitrate dehydrogenase (IDH) 1 or 2 mutations confer a favorable prognosis compared to IDH-wildtype in astrocytoma, frequently denoting a lower grade malignancy. However, recent molecular profiling has identified specific aggressive tumor subgroups ... ...

    Abstract Isocitrate dehydrogenase (IDH) 1 or 2 mutations confer a favorable prognosis compared to IDH-wildtype in astrocytoma, frequently denoting a lower grade malignancy. However, recent molecular profiling has identified specific aggressive tumor subgroups with clear clinical prognostic implications that are independent of histologic grading. The homozygous deletion of CDKN2A/B is the strongest implicated independent indicator of the poor prognosis within IDH-mutant astrocytoma, and the identification of this alteration in these lower histologic grade tumors transforms their biology toward an aggressive grade 4 phenotype clinically. CDKN2A/B homozygous deletion is now sufficient to define a grade 4 tumor in IDH-mutant astrocytomas regardless of histologic appearance, yet there are currently no effective molecularly informed targeted therapies for these tumors. The biological impact of CDKN2A/B homozygous deletion in IDH-mutant tumors and the optimal treatment strategy for this molecular subgroup remains insufficiently explored. Here we review the current understanding of the translational significance of homozygous deletion of CDKN2A/B gene expression in IDH-mutant astrocytoma and associated diagnostic and therapeutic implications.
    MeSH term(s) Humans ; Astrocytoma/pathology ; Brain Neoplasms/pathology ; Cyclin-Dependent Kinase Inhibitor p16/genetics ; Cyclin-Dependent Kinase Inhibitor p16/metabolism ; Homozygote ; Isocitrate Dehydrogenase/genetics ; Mutation ; Sequence Deletion
    Chemical Substances CDKN2A protein, human ; Cyclin-Dependent Kinase Inhibitor p16 ; Isocitrate Dehydrogenase (EC 1.1.1.41) ; CDKN2B protein, human
    Language English
    Publishing date 2022-09-12
    Publishing country England
    Document type Review ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 2028601-6
    ISSN 1523-5866 ; 1522-8517
    ISSN (online) 1523-5866
    ISSN 1522-8517
    DOI 10.1093/neuonc/noac205
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  10. Article: Genetic predisposition to altered blood cell homeostasis is associated with glioma risk and survival.

    Kachuri, Linda / Guerra, Geno A / Wendt, George A / Hansen, Helen M / Molinaro, Annette M / Bracci, Paige / McCoy, Lucie / Rice, Terri / Wiencke, John K / Eckel-Passow, Jeanette E / Jenkins, Robert B / Wrensch, Margaret / Francis, Stephen S

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: Glioma is a highly fatal brain tumor comprised of molecular subtypes with distinct clinical trajectories. Observational studies have suggested that variability in immune response may play a role in glioma etiology. However, their findings have been ... ...

    Abstract Glioma is a highly fatal brain tumor comprised of molecular subtypes with distinct clinical trajectories. Observational studies have suggested that variability in immune response may play a role in glioma etiology. However, their findings have been inconsistent and susceptible to reverse causation due to treatment effects and the immunosuppressive nature of glioma. We applied genetic variants associated (p<5×10
    Language English
    Publishing date 2023-10-16
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.10.15.23296448
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