Genomes and Genes
Scott L Pomeroy
Affiliation: Harvard University
- Prediction of central nervous system embryonal tumour outcome based on gene expressionScott L Pomeroy
Division of Neuroscience, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
Nature 415:436-42. 2002..We show further that the clinical outcome of children with medulloblastomas is highly predictable on the basis of the gene expression profiles of their tumours at diagnosis...
- Epigenetic antagonism between polycomb and SWI/SNF complexes during oncogenic transformationBORIS G WILSON
Department of Pediatric Oncology, Dana Farber Cancer Institute, Children s Hospital Boston, Harvard Medical School, MA 02115, USA
Cancer Cell 18:316-28. 2010..Finally, using conditional mouse models, we show that inactivation of Ezh2 blocks tumor formation driven by Snf5 loss...
- miR-34a confers chemosensitivity through modulation of MAGE-A and p53 in medulloblastomaShyamal D Weeraratne
Department of Neurology, Children s Hospital Boston Harvard Medical School, 3 Blackfan Circle, CLS 14072, Boston, MA 02115, USA
Neuro Oncol 13:165-75. 2011..Our work establishes a role for miR-34a in modulating responsiveness to chemotherapy in medulloblastoma and presents a novel positive feedback mechanism involving miR-34a and p53, via direct targeting of MAGE-A...
- Medulloblastoma tumorigenesis diverges from cerebellar granule cell differentiation in patched heterozygous miceJohn Y H Kim
Department of Neurology, Division of Neuroscience, Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
Dev Biol 263:50-66. 2003..These results indicate that Ptc heterozygosity contributes to tumorigenesis by predisposing a subset of granule cell precursors to the formation of proliferative rests and subsequent dysregulation of developmental gene expression...
- Loss of the epigenetic tumor suppressor SNF5 leads to cancer without genomic instabilityElizabeth S McKenna
Department of Pediatric Oncology, Dana Farber Cancer Institute, Division of Hematology Oncology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA
Mol Cell Biol 28:6223-33. 2008....
- Combining gene expression profiles and clinical parameters for risk stratification in medulloblastomasAna Fernandez-Teijeiro
Division of Neuroscience, Department of Neurology, Department of Medicine, Children s Hospital, 300 Longwood Ave, Boston MA 02115, USA
J Clin Oncol 22:994-8. 2004..Outcome predictions on the basis of microarray gene expression profiles have been the most accurate to date. We ask in a multivariate model whether clinical parameters enhance survival predictions of gene expression profiles...
- Transverse myelitis after therapy for primitive neuroectodermal tumorsNicole J Ullrich
Department of Neurology, Children s Hospital Boston and Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA
Pediatr Neurol 35:122-5. 2006....
- Long-term clinical outcomes following treatment of childhood craniopharyngiomaKaren M Winkfield
Harvard Radiation Oncology Program, Harvard Medical School, Boston, Massachusetts, USA
Pediatr Blood Cancer 56:1120-6. 2011....
- Molecular genetics of pediatric central nervous system tumorsNicole J Ullrich
Department of Neurology, Children s Hospital Boston, Boston, MA 02115, USA
Curr Oncol Rep 8:423-9. 2006..All new protocols involving treatments for brain tumors in children include studies of biomarkers and biologic correlates as a means to identify new targets for therapeutics and possible intervention strategies...
- Integrative genomic analysis of medulloblastoma identifies a molecular subgroup that drives poor clinical outcomeYoon Jae Cho
Children s Hospital Boston, Boston, MA 02115, USA
J Clin Oncol 29:1424-30. 2011....
- Pleiotropic effects of miR-183~96~182 converge to regulate cell survival, proliferation and migration in medulloblastomaShyamal Dilhan Weeraratne
Department of Neurology, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
Acta Neuropathol 123:539-52. 2012..Thus, the miR-183 cluster regulates multiple biological programs that converge to support the maintenance and metastatic potential of medulloblastoma...
- Stereotactic radiotherapy for localized low-grade gliomas in children: final results of a prospective trialKaren J Marcus
Children s Hospital, Boston, MA 02115, USA
Int J Radiat Oncol Biol Phys 61:374-9. 2005..To evaluate the efficacy of stereotactic radiotherapy (SRT) for small, localized, pediatric brain tumors and to determine the patterns of failure...
- Neuropsychological functioning after surgery in children treated for brain tumorSarah C Carpentieri
Division of Psychology, Department of Psychiatry, Children s Hospital, Boston, MA, USA
Neurosurgery 52:1348-56; discussion 1356-7. 2003..Subsequent reports will describe the neuropsychological functioning of children treated with surgery and stereotactic radiation therapy on Dana-Farber Cancer Institute 92-077...
- Inactivation of the Snf5 tumor suppressor stimulates cell cycle progression and cooperates with p53 loss in oncogenic transformationMichael S Isakoff
Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston, MA 02115, USA
Proc Natl Acad Sci U S A 102:17745-50. 2005..Further, conditional mouse models demonstrate that inactivation of p16Ink4a or Rb (retinoblastoma) does not accelerate tumor formation in Snf5 conditional mice, whereas mutation of p53 leads to a dramatic acceleration of tumor formation...
- Continuous remission of newly diagnosed and relapsed central nervous system atypical teratoid/rhabdoid tumorMary Ann Zimmerman
Department of Pediatric Oncology, Pediatric Neuro Oncology, Dana Farber Cancer Institute, Rm SW331, 44 Binny Street, Boston, MA 02115, USA
J Neurooncol 72:77-84. 2005..More importantly, we report on the first two survivors after relapse with multi-agent intravenous and intrathecal chemotherapy treated with this modified regimen...
- Gene expression-based classification of malignant gliomas correlates better with survival than histological classificationCatherine L Nutt
Department of Pathology and Neurosurgical Service, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
Cancer Res 63:1602-7. 2003..These data suggest that class prediction models, based on defined molecular profiles, classify diagnostically challenging malignant gliomas in a manner that better correlates with clinical outcome than does standard pathology...
- A novel role for extracellular signal-regulated kinase 5 and myocyte enhancer factor 2 in medulloblastoma cell deathLisa Marie Sturla
Program in Neuroscience, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA
Cancer Res 65:5683-9. 2005....
- Medulloblastoma biology in the post-genomic eraTenley C Archer
Department of Neurology, Children s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Fegan 1103, Boston, MA 02115, USA
Future Oncol 8:1597-604. 2012..Presently, medulloblastoma reinforces epigenetic mechanisms as a tantalizing therapeutic target in cancers...
- A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3Sheena Chew
Department of Neurology, Boston Children s Hospital, Boston, MA 02115, USA
Brain 136:522-35. 2013..The definition of the TUBB3 E410K syndrome will allow clinicians to identify affected individuals and predict the mutation based on clinical features alone...
- Sleep dysfunction in long term survivors of craniopharyngiomaPeter E Manley
Pediatric Oncology, Dana Farber Cancer Institute, Boston, MA 02215, USA
J Neurooncol 108:543-9. 2012..Patients with a higher BMI were more likely to experience sleep disturbance. Formal sleep evaluations should be considered in all patients with craniopharyngioma...
- Diencephalic syndrome: a cause of failure to thrive and a model of partial growth hormone resistanceAmy Fleischman
Division of Endocrinology, Children s Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA
Pediatrics 115:e742-8. 2005..This study emphasizes diencephalic syndrome as a model for additional study of growth hormone resistance and metabolic regulation of adiposity...
- Neuralized1 causes apoptosis and downregulates Notch target genes in medulloblastomaNatalia Teider
Department of Neurology, Children s Hospital Boston, Boston, MA 02115, USA
Neuro Oncol 12:1244-56. 2010..From these studies, we conclude that NEURL1 is a candidate tumor suppressor in MB, at least in part through its effects on the Notch pathway...
- Incidence, risk factors, and longitudinal outcome of seizures in long-term survivors of pediatric brain tumorsNicole J Ullrich
Department of Neurology, Boston Children s Hospital, Boston, Massachusetts, U S A
Epilepsia 56:1599-604. 2015..Seizures are common during and after treatment for a primary brain tumor. Our objective was to describe the incidence and risk factors for seizures in long-term survivors of pediatric brain tumors...
- A developmental program drives aggressive embryonal brain tumorsTenley C Archer
Department of Neurology, Boston Children s Hospital, Harvard Medical School, Boston, Massachusetts, USA
Nat Genet 46:2-3. 2014..A new study shows that these tumors are universally driven by fusion of the promoter of a gene with brain-specific expression, TTYH1, to C19MC, the largest human microRNA cluster, activating a fetal neural development program. ..
- α5-GABAA receptors negatively regulate MYC-amplified medulloblastoma growthSoma Sengupta
Department of Neurology, Boston Children s Hospital, Boston, MA, USA
Acta Neuropathol 127:593-603. 2014....
- Craniopharyngioma therapy: long-term effects on hypothalamic functionNicole J Ullrich
Division of Neuroscience, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
Neurologist 11:55-60. 2005..Craniopharyngiomas are the most common intracranial tumor of extraneural origin in childhood...
- Magnetic resonance imaging of patched heterozygous and xenografted mouse brain tumorsAaron L Nelson
Division of Neurology, Department of Neurosciences, Children s Hospital, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, USA
J Neurooncol 62:259-67. 2003..Results also show that experimental mice, even symptomatic mice, tolerate repeated serial imaging studies over weeks to months to follow tumor progression and to visualize placement of an intracerebral drug delivery system...
- Everyday cognitive function after craniopharyngioma in childhoodDeborah P Waber
Division of Psychology, Department of Psychiatry, Children s Hospital Boston, MA 02115, USA
Pediatr Neurol 34:13-9. 2006..The extent of self-rated cognitive problems is related to spatial working memory and somatic concerns...
- Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1Lori A Ramkissoon
Department of Medical Oncology, Dana Farber Cancer Institute, Boston, MA 02115, USA
Proc Natl Acad Sci U S A 110:8188-93. 2013..Our results define clinically relevant molecular subclasses of diffuse PLGGs and highlight a potential role for the MYB family in the biology of low-grade gliomas...
- Molecular biology of medulloblastoma therapyScott L Pomeroy
Department of Neurology, Enders 260, Children s Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA
Pediatr Neurosurg 39:299-304. 2003..Consequently, a new approach to tissue collection is required for molecular analysis as we enter the next era of brain tumor therapy...
- Tumour microvesicles contain retrotransposon elements and amplified oncogene sequencesLeonora Balaj
Department of Neurology, Harvard Medical School, Boston, MA 02129, USA
Nat Commun 2:180. 2011..Thus, tumour microvesicles contain a repertoire of genetic information available for horizontal gene transfer and potential use as blood biomarkers for cancer...
- The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressorSusanne Schlisio
Department of Medical Oncology, Dana Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA
Genes Dev 22:884-93. 2008....
- Pediatric brain tumorsNicole J Ullrich
Department of Neurology, Children s Hospital, Boston, 300 Longwood Avenue, Enders 260, Boston, MA 02115, USA
Neurol Clin 21:897-913. 2003..Despite the improved treatments and prognostic data, however, many long-term survivors experience significant neurocognitive and developmental deficits...
- Cardiac risk after craniopharyngioma therapySandy Mong
Harvard Medical School, Boston, Massachusetts, USA
Pediatr Neurol 38:256-60. 2008..QTc-prolonging medication and stimulants should be used with caution in this population, and routine electrocardiogram screening may identify those at highest risk...
- Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceMax A Tischfield
Department of Neurology, Children s Hospital Boston, Boston, MA 02115, USA
Cell 140:74-87. 2010..These findings demonstrate that normal TUBB3 is required for axon guidance and maintenance in mammals...
- Defining the molecular landscape of ependymomasTenley C Archer
Department of Neurology, Boston Children s Hospital, Harvard Medical School, Harvard University, Cambridge, MA 02138, USA Broad Institute of MIT and Harvard, Harvard University, Cambridge, MA 02138, USA
Cancer Cell 27:613-5. 2015..Two subgroups, predominately pediatric, are responsible for most of the mortality, with all others having nearly 100% overall survival after 5 years. ..
- Clinical practice guidelines and practice parameters for the child neurologistAlan Leviton
Department of Neurology, Boston Children s Hospital and Harvard Medical School, Boston, MA, USA
J Child Neurol 28:917-25. 2013..and adhered to, what influences acceptance and adherence, do guidelines improve care, do they reduce costs, will they be viewed by courts as the standard of care, how can they be updated and improved, and are there better alternatives?..
- High-resolution imaging demonstrates dynein-based vesicular transport of activated Trk receptorsAnita Bhattacharyya
Department of Cancer Biology, Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA
J Neurobiol 51:302-12. 2002..Collectively, these results indicate activated Trk within axons travel in vesicles and dynein is the motor that drives these vesicles towards the cell bodies...
- A phase I trial of etanidazole and hyperfractionated radiotherapy in children with diffuse brainstem gliomaKaren J Marcus
Department of Medicine, Division of Radiation Oncology, Children s Hospital, Boston, MA 02115, USA
Int J Radiat Oncol Biol Phys 55:1182-5. 2003..To determine the toxicity and maximum tolerated dose of etanidazole administered concurrently with hyperfractionated radiation therapy (HRT) for children with brainstem glioma...
- Focus on central nervous system neoplasiaDavid N Louis
Department of Pathology and Neurosurgical Service, Massachusetts General Hospital, Boston, MA 02114, USA
Cancer Cell 1:125-8. 2002
- Application of microarrays to neurological diseaseLisa Marie Sturla
Division of Neuroscience, Department of Neurology, Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
Arch Neurol 60:676-82. 2003
- Medulloblastomas and primitive neuroectodermal tumors rarely contain polyomavirus DNA sequencesJohn Y H Kim
Division of Neuroscience, Department of Neurology, Children s Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA
Neuro Oncol 4:165-70. 2002..In contrast to childhood ependymomas and choroid plexus tumors, medulloblastomas and sPNETs infrequently express evidence of polyomavirus infection...
- Gain of 1q is a potential univariate negative prognostic marker for survival in medulloblastomaKen C Lo
Department of Cancer Genetics, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, New York 14263, USA
Clin Cancer Res 13:7022-8. 2007..In this context, current strategies for risk assessment, which are based on clinical parameters, remain unsatisfactory...
- Medulloblastoma outcome is adversely associated with overexpression of EEF1D, RPL30, and RPS20 on the long arm of chromosome 8Massimiliano De Bortoli
Texas Children s Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
BMC Cancer 6:223. 2006..In the present study, we applied cytogenetic characterization to guide the identification of biologically significant genes from gene expression microarray profiles of medulloblastoma...
- Overlay analysis of the oligonucleotide array gene expression profiles and copy number abnormalities as determined by array comparative genomic hybridization in medulloblastomasKen C Lo
Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
Genes Chromosomes Cancer 46:53-66. 2007....
- Conserved mechanisms across development and tumorigenesis revealed by a mouse development perspective of human cancersAlvin T Kho
Children s Hospital Informatics Program, Children s Hospital Boston, MA 02115, USA
Genes Dev 18:629-40. 2004....
- Progressive myoclonus in a child with a deep cerebellar massJonathan W Mink
University of Rochester School of Medicine and Golisano Children s Hospital at Strong, Rochester, NY, USA
Neurology 61:829-31. 2003..They hypothesize that abnormal paroxysmal discharge of neurons in the cerebellar nuclei can generate myoclonus...
- Ataxia and shaking in a 2-year-old girl: acute marijuana intoxication presenting as seizureJoshua L Bonkowsky
Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84158, USA
Pediatr Emerg Care 21:527-8. 2005
- Marked regression of metastatic pilocytic astrocytoma during treatment with imatinib mesylate (STI-571, Gleevec): a case report and laboratory investigationMargaret E McLaughlin
Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
J Pediatr Hematol Oncol 25:644-8. 2003....
- INI1 protein expression distinguishes atypical teratoid/rhabdoid tumor from choroid plexus carcinomaAlexander R Judkins
Department of Pathology, University of Pennsylvania School of Medicine and Children s Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA
J Neuropathol Exp Neurol 64:391-7. 2005..This expression pattern seems to better define the 2 groups of tumors than does light or electron microscopy, routine immunohistochemistry, or cytogenetic analysis alone...
- Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profilesAravind Subramanian
Broad Institute of Massachusetts Institute of Technology and Harvard, 320 Charles Street, Cambridge, MA 02141, USA
Proc Natl Acad Sci U S A 102:15545-50. 2005..The GSEA method is embodied in a freely available software package, together with an initial database of 1,325 biologically defined gene sets...