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Professor RICHARD GRUNDY's Outputs (72)

The European Society of Paediatric Oncology Ependymoma-II program Core-Plus model: Development and initial implementation of a cognitive test protocol for an international brain tumour trial (2019)
Journal Article
Thomas, S., Reynolds, D., Morrall, M., Limond, J., Chevignard, M., Calaminus, G., Poggi, G., Bennett, E., Frappaz, D., Slade, D., Gautier, J., McQuilton, P., Massimino, M., & Grundy, R. (2019). The European Society of Paediatric Oncology Ependymoma-II program Core-Plus model: Development and initial implementation of a cognitive test protocol for an international brain tumour trial. European Journal of Paediatric Neurology, 23(4), 560-570. https://doi.org/10.1016/j.ejpn.2019.05.009

© 2019 European Paediatric Neurology Society It is increasingly accepted that survival alone is an inadequate measure of the success of childhood brain tumour treatments. Consequently, there is growing emphasis on capturing quality of survival. Epend... Read More about The European Society of Paediatric Oncology Ependymoma-II program Core-Plus model: Development and initial implementation of a cognitive test protocol for an international brain tumour trial.

Identification of new Wilms tumour predisposition genes: an exome sequencing study (2019)
Journal Article
Mahamdallie, S., Yost, S., Poyastro-Pearson, E., Holt, E., Zachariou, A., Seal, S., Elliott, A., Clarke, M., Warren-Perry, M., Hanks, S., Anderson, J., Bomken, S., Cole, T., Farah, R., Furtwaengler, R., Glaser, A., Grundy, R., Hayden, J., Lowis, S., Millot, F., …Rahman, N. (2019). Identification of new Wilms tumour predisposition genes: an exome sequencing study. Lancet Child and Adolescent Health, 3(5), 322-331. https://doi.org/10.1016/s2352-4642%2819%2930018-5

Outcomes of non-anaplastic stage III and ‘inoperable’ Wilms tumour treated in the UKW3 trial (2018)
Journal Article
Irtan, S., Messahel, B., Moroz, V., Taylor, R. E., Grundy, R., Kelsey, A., Vujanic, G., & Pritchard-Jones, K. (2019). Outcomes of non-anaplastic stage III and ‘inoperable’ Wilms tumour treated in the UKW3 trial. Radiotherapy and Oncology, 131, 1-7. https://doi.org/10.1016/j.radonc.2018.10.026

© 2018 Background and purpose: To describe the outcome of patients with stage III Wilms tumours (WT) treated in the UKW3 trial. Material and methods: Patients with a pathologically confirmed stage III non-anaplastic WT at nephrectomy (Group A) or wit... Read More about Outcomes of non-anaplastic stage III and ‘inoperable’ Wilms tumour treated in the UKW3 trial.

Limitations of current in vitro models for testing the clinical potential of epigenetic inhibitors for treatment of pediatric ependymoma (2018)
Journal Article
Rogers, H. A., Chapman, R., Kings, H., Allard, J., Barron-Hastings, J., Pajtler, K. W., Sill, M., Pfister, S., & Grundy, R. G. (2018). Limitations of current in vitro models for testing the clinical potential of epigenetic inhibitors for treatment of pediatric ependymoma. Oncotarget, 9(92), 36530-36541. https://doi.org/10.18632/oncotarget.26370

Background: Epigenetic modifications have been shown to play an important role in the classification and pathogenesis of the pediatric brain tumor ependymoma, suggesting they are a potential therapeutic target.

Results: Agents targeting epigenetic... Read More about Limitations of current in vitro models for testing the clinical potential of epigenetic inhibitors for treatment of pediatric ependymoma.

Chemical modulation of autophagy as an adjunct to chemotherapy in childhood and adolescent brain tumors (2018)
Journal Article
Servante, J., Estranero, J., Meijer, L., Layfield, R., & Grundy, R. (2018). Chemical modulation of autophagy as an adjunct to chemotherapy in childhood and adolescent brain tumors. Oncotarget, 9(81), 35266-35277. https://doi.org/10.18632/oncotarget.26186

Brain tumors are the leading cause of cancer-related death in children and are the most challenging childhood cancer in relation to diagnosis, treatment, and outcome. One potential novel strategy to improve outcomes in cancer involves the manipulati... Read More about Chemical modulation of autophagy as an adjunct to chemotherapy in childhood and adolescent brain tumors.

Tissue metabolite profiles for the characterisation of paediatric cerebellar tumours (2018)
Journal Article
Bennett, C. D., Kohe, S. E., Gill, S. K., Davies, N. P., Wilson, M., Storer, L. C. D., Ritzmann, T., Paine, S. M. L., Scott, I. S., Nicklaus-Wollenteit, I., Tennant, D. A., Grundy, R. G., & Peet, A. C. (2018). Tissue metabolite profiles for the characterisation of paediatric cerebellar tumours. Scientific Reports, 8, Article 11992. https://doi.org/10.1038/s41598-018-30342-8

Paediatric brain tumors are becoming well characterized due to large genomic and epigenomic studies. Metabolomics is a powerful analytical approach aiding in the characterization of tumors. This study shows that common cerebellar tumors have metaboli... Read More about Tissue metabolite profiles for the characterisation of paediatric cerebellar tumours.

Molecular heterogeneity and CXorf67 alterations in posterior fossa group A (PFA) ependymomas (2018)
Journal Article
Pajtler, K. W., Wen, J., Sill, M., Lin, T., Orisme, W., Tang, B., Hübner, J.-M., Ramaswamy, V., Jia, S., Dalton, J. D., Haupfear, K., Rogers, H. A., Punchihewa, C., Lee, R., Easton, J., Wu, G., Ritzmann, T. A., Chapman, R., Chavez, L., Boop, F. A., …Ellison, D. W. (2018). Molecular heterogeneity and CXorf67 alterations in posterior fossa group A (PFA) ependymomas. Acta Neuropathologica, 136(2), 211-226. https://doi.org/10.1007/s00401-018-1877-0

Of nine ependymoma molecular groups detected by DNA methylation profiling, the posterior fossa type A (PFA) is most prevalent. We used DNA methylation profiling to look for further molecular heterogeneity among 675 PFA ependymomas. Two major subgroup... Read More about Molecular heterogeneity and CXorf67 alterations in posterior fossa group A (PFA) ependymomas.

Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target (2018)
Journal Article
Apps, J. R., Carreno, G., Gonzalez-Meljem, J. M., Haston, S., Guiho, R., Cooper, J. E., Manshaei, S., Jani, N., Holsken, A., Pettorini, B., Beynon, R. J., Simpson, D. M., Fraser, H. C., Hong, Y., Hallang, S., Stone, T. J., Virasami, A., Donson, A. M., Jones, D., Aquilina, K., …Martinez-Barbera, J. P. (2018). Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target. Acta Neuropathologica, 135(5), 757-777. https://doi.org/10.1007/s00401-018-1830-2

Adamantinomatous craniopharyngiomas (ACPs) are clinically challenging tumours, the majority of which have activating mutations in CTNNB1. They are histologically complex, showing cystic and solid components, the latter comprised of different morpholo... Read More about Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target.

Translating childhood brain tumour research into clinical practice: the experience of molecular classification and diagnostics (2018)
Journal Article
Ritzmann, T. A., & Grundy, R. G. (2018). Translating childhood brain tumour research into clinical practice: the experience of molecular classification and diagnostics. Paediatrics and Child Health, 28(4), https://doi.org/10.1016/j.paed.2018.01.006

Diagnosis and treatment of paediatric brain tumours has shown limited progress over the last half century. However, in the past 10 years the development of molecular techniques for investigating these tumours has expanded exponentially. The use of me... Read More about Translating childhood brain tumour research into clinical practice: the experience of molecular classification and diagnostics.

Transcriptomic analysis in pediatric spinal ependymoma reveals distinct molecular signatures (2017)
Journal Article
Lourdusamy, A., Luo, L. Z., Storer, L. C., Cohen, K. J., Resar, L., & Grundy, R. G. (2017). Transcriptomic analysis in pediatric spinal ependymoma reveals distinct molecular signatures. Oncotarget, 8(70), https://doi.org/10.18632/oncotarget.23311

Pediatric spinal ependymomas (SEPN) are important albeit uncommon malignant central nervous system tumors with limited treatment options. Our current knowledge about the underlying biology of these tumors is limited due to their rarity. To begin to e... Read More about Transcriptomic analysis in pediatric spinal ependymoma reveals distinct molecular signatures.

Evaluation of a novel antibody to define histone 3.3 G34R mutant brain tumours (2017)
Journal Article
Haque, F., Varlet, P., Puntonet, J., Storer, L., Bountali, A., Rahman, R., Grill, J., Carcaboso, A. M., Jones, C., Layfield, R., & Grundy, R. G. (2017). Evaluation of a novel antibody to define histone 3.3 G34R mutant brain tumours. Acta Neuropathologica Communications, 5, 1-9. https://doi.org/10.1186/s40478-017-0449-1

Missense somatic mutations affecting histone H3.1 and H3.3 proteins are now accepted as the hallmark of paediatric diffuse intrinsic pontine gliomas (DIPG), non-brain stem paediatric high grade gliomas (pHGG) as well as a subset of adult glioblastoma... Read More about Evaluation of a novel antibody to define histone 3.3 G34R mutant brain tumours.

Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors (2016)
Journal Article
Torchia, J., Golbourn, B., Feng, S., Ching Ho, K., Sin-Chan, P., Vasiljevic, A., Norman, J. D., Guilhamon, P., Garzia, L., Agamez, N. R., Lu, M., Chan, T. S., Picard, D., de Antonellis, P., Khuong-Quang, D.-A., Planello, A. C., Zeller, C., Barsyte-Lovejoy, D., Lafay-Cousin, L., Letourneau, L., …Huang, A. (2016). Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors. Cancer Cell, 30(6), 891-908. https://doi.org/10.1016/j.ccell.2016.11.003

We recently reported that atypical teratoid rhabdoid tumors (ATRTs) comprise at least two transcriptional subtypes with different clinical outcomes; however, the mechanisms underlying therapeutic heterogeneity remained unclear. In this study, we anal... Read More about Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors.

Assessing ‘second-look’ tumour resectability in childhood posterior fossa ependymoma—a centralised review panel and staging tool for future studies (2016)
Journal Article
Millward, C. P., Malluci, C., Jaspan, T., Macarthur, D., Heyward, R., Cox, T., Chong, K., & Grundy, R. G. (2016). Assessing ‘second-look’ tumour resectability in childhood posterior fossa ependymoma—a centralised review panel and staging tool for future studies. Child's Nervous System, 32, 2189–2196. https://doi.org/10.1007/s00381-016-3225-9

Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis (2015)
Journal Article
Grundy, R., Torchia, J., Picard, D., Lafay-Cousin, L., Hawkins, C. E., Kim, S.-K., Letourneau, L., Ra, P. Y.-S., Ching Ho, K., Sin Yu Chan, T., Sin-Chan, P., Dunham, C. P., Yip, S., Ng, H.-K., Lu, J.-Q., Albrecht, S., Pimentel, J., Chan, J. A., Somers, G. R., Zielenska, M., … Huang, D. A. (2015). Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis. Lancet Oncology, 16(5), 569-582. https://doi.org/10.1016/S1470-2045%2815%2970114-2

Background
Rhabdoid brain tumours, also called atypical teratoid rhabdoid tumours, are lethal childhood cancers with characteristic genetic alterations of SMARCB1/hSNF5. Lack of biological understanding of the substantial clinical heterogeneity of t... Read More about Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis.

Expression alterations define unique molecular characteristics of spinal ependymomas (2015)
Journal Article
Lourdusamy, A., Rahman, R., & Grundy, R. G. (2015). Expression alterations define unique molecular characteristics of spinal ependymomas. Oncotarget, 6(23), https://doi.org/10.18632/oncotarget.3715

Ependymomas are glial tumors that originate in either intracranial or spinal regions. Although tumors from different regions are histologically similar, they are biologically distinct. We therefore sought to identify molecular characteristics of spin... Read More about Expression alterations define unique molecular characteristics of spinal ependymomas.

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers (2015)
Journal Article
Grundy, R., Shlien, A., Campbell, B. B., de Borja, R., Alexandrov, L. B., Merico, D., Wedge, D., Van Loo, P., Tarpey, P. S., Coupland, P., Behjati, S., Pollett, A., Lipman, T., Heidari, A., Deshmukh, S., Avitzur, N., Meier, B., Gerstung, M., Hong, Y., Merino, D. M., …Tabori, U. (2015). Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers. Nature Genetics, 47(3), 257-262. https://doi.org/10.1038/ng.3202

DNA replication?associated mutations are repaired by two components: polymerase proofreading and mismatch repair. The mutation consequences of disruption to both repair components in humans are not well studied. We sequenced cancer genomes from child... Read More about Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.

Surgical delivery of drug releasing poly(lactic-co-glycolic acid)/poly(ethylene glycol) paste with in vivo effects against glioblastoma (2014)
Journal Article
Smith, S. J., Rahman, C. V., Ritchie, A. A., Gould, T. W., Ward, J. H., Shakesheff, K. M., Grundy, R. G., Rahman, R., & Clarke, P. A. (2014). Surgical delivery of drug releasing poly(lactic-co-glycolic acid)/poly(ethylene glycol) paste with in vivo effects against glioblastoma. Annals of The Royal College of Surgeons of England, 96(7), 495-501. https://doi.org/10.1308/003588414X13946184903568

Introduction: The median survival of patients with glioblastoma multiforme (astrocytoma grade 4) remains less than 18 months despite radical surgery, radiotherapy and systemic chemotherapy. Surgical implantation of chemotherapy eluting wafers into th... Read More about Surgical delivery of drug releasing poly(lactic-co-glycolic acid)/poly(ethylene glycol) paste with in vivo effects against glioblastoma.

Germ-line and somatic DICER1 mutations in pineoblastoma (2014)
Journal Article
de Kock, L., Sabbaghian, N., Druker, H., Weber, E., Hamel, N., Miller, S., Choong, C. S., Gottardo, N. G., Kees, U. R., Rednam, S. P., van Hest, L. P., Jongmans, M. C., Jhangiani, S., Lupski, J. R., Zacharin, M., Bouron-Dal Soglio, D., Huang, A., Priest, J. R., Perry, A., Mueller, S., …Foulkes, W. D. (2014). Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathologica, 128(4), 583–595. https://doi.org/10.1007/s00401-014-1318-7

Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic factors are not well established. We recently identified a germ-line DICER1 mutation in a child with a PinB. This was accompanied by loss of heterozygosity (L... Read More about Germ-line and somatic DICER1 mutations in pineoblastoma.