Genomes and Genes
Affiliation: Johns Hopkins University
- Exomic sequencing of four rare central nervous system tumor typesChetan Bettegowda
Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Oncotarget 4:572-83. 2013..Our study supports the hypothesis that pathologically similar tumors arising in different age groups and from different compartments may represent distinct disease processes with varied genetic composition...
- Sublabial approach for the treatment of symptomatic basilar impression in a patient with Klippel-Feil syndromeChetan Bettegowda
Department of Neurosurgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Neurosurgery 69:ons77-82; discussion ons82. 2011..Symptomatic BI is often difficult to treat surgically secondary to the anatomic variants associated with many of the coinciding congenital syndromes...
- Frequent ATRX, CIC, FUBP1 and IDH1 mutations refine the classification of malignant gliomasYuchen Jiao
Ludwig Center for Cancer Genetics and Howard Hughes Medical Institutions, The Johns Hopkins Kimmel Cancer Center, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
Oncotarget 3:709-22. 2012....
- Lessons learned from next-generation sequencing in head and neck cancerMyriam Loyo
Department of Otolaryngology Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Head Neck 35:454-63. 2013..Emphasis is placed on the involved cellular pathways, clinical correlations, and potential therapeutic interventions. Additionally, the implications of human papillomavirus on mutation patterns are discussed...
- Mutations in CIC and FUBP1 contribute to human oligodendrogliomaChetan Bettegowda
Ludwig Center for Cancer Genetics and Howard Hughes Medical Institutions, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21287, USA
Science 333:1453-5. 2011..These results suggest a critical role for these genes in the biology and pathology of oligodendrocytes...
- Comparative genomic analysis of esophageal adenocarcinoma and squamous cell carcinomaNishant Agrawal
Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institutions, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Cancer Discov 2:899-905. 2012..Finally, we provide a genetic basis for the evolution of EACs from Barrett esophagus...
- Intramedullary spinal cord tumor surgery: can we do it without intraoperative neurophysiological monitoring?Wesley Hsu
Department of Neurosurgery, Johns Hopkins Medical Institutions, Baltimore, MD, USA
Childs Nerv Syst 26:241-5. 2010..The objective of this review is to discuss the utilization of intraoperative neurophysiological monitoring (IONM) during spinal cord tumor surgery...
- Erlotinib inhibits growth of a patient-derived chordoma xenograftI Mei Siu
Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
PLoS ONE 8:e78895. 2013..This is the first demonstration of antitumor activity in a patient-derived chordoma xenograft model and these findings support further evaluation of EGFR inhibitors in this disease. ..
- Spinal cord tumours: advances in genetics and their implications for treatmentPatricia L Zadnik
The Johns Hopkins University School of Medicine, Department of Neurosurgery, 600 North Wolfe Street, Baltimore, MD 21287, USA
Nat Rev Neurol 9:257-66. 2013..We highlight advances in understanding of the biological basis of these lesions, and explain how the latest progress in genetics and beyond are being translated to improve patient care...
- Treatment of choroid plexus tumors: a 20-year single institutional experienceChetan Bettegowda
Department of Neurosurgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
J Neurosurg Pediatr 10:398-405. 2012..The optimal perioperative management and oncological care remain a matter of debate. The authors present the epidemiological and clinical features of CPTs from a 20-year single-institutional experience...
- Exomic sequencing of medullary thyroid cancer reveals dominant and mutually exclusive oncogenic mutations in RET and RASNishant Agrawal
Ludwig Center for Cancer Genetics and Howard Hughes Medical Institutions, Baltimore, Maryland 21287, USA
J Clin Endocrinol Metab 98:E364-9. 2013..Objective: To explore the genetic origin of MTC, we sequenced the protein coding exons of approximately 21,000 genes in 17 sporadic MTCs...
- Predictors of surgery-free outcome in adult endoscopic third ventriculostomyGraeme F Woodworth
Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
World Neurosurg 78:312-7. 2012..We analyze patient, radiographic, and operative factors associated with CSF diversion surgery-free outcomes after ETV...
- Patients undergoing surgery of intracranial metastases have different outcomes based on their primary pathologyKaisorn L Chaichana
Johns Hopkins University, Baltimore, MD, USA
Neurol Res 35:1059-69. 2013..Patients who develop intracranial metastases are often grouped into the same study population, and therefore an understanding of outcomes for patients with different primary cancers remain unclear...
- Altered telomeres in tumors with ATRX and DAXX mutationsChristopher M Heaphy
Department of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA
Science 333:425. 2011..ATRX mutations also correlate with abnormal telomeres in tumors of the central nervous system. These data suggest that an alternative telomere maintenance function may operate in human tumors with alterations in the ATRX or DAXX genes...
- Subependymoma: clinical features and surgical outcomesAmit Jain
Department of Neurosurgery, Johns Hopkins School of Medicine, Baltimore, MD, USA
Neurol Res 34:677-84. 2012..Subependymomas are rare, indolent neoplasms that have been described in the brain and the spinal cord. The purpose of this study is to report the clinical and radiolographic features, and surgical outcomes of this entity...
- Evaluation of DNA from the Papanicolaou test to detect ovarian and endometrial cancersIsaac Kinde
The Ludwig Center for Cancer Genetics and Therapeutics, The Swim Across America Laboratory at Johns Hopkins, Baltimore, MD 21287, USA
Sci Transl Med 5:167ra4. 2013..Although improvements need to be made before applying this test in a routine clinical manner, it represents a promising step toward a broadly applicable screening methodology for the early detection of gynecologic malignancies...
- Pediatric spinal glioblastoma multiforme: current treatment strategies and possible predictors of survivalChiagozie Ononiwu
Division of Pediatric Neurosurgery, Department of Neurosurgery, The Johns Hopkins Hospital, Baltimore, MD 21287, USA
Childs Nerv Syst 28:715-20. 2012..Evidence-directed management relies on studies in which such cases are only a subset of a larger group. We reviewed cases of pediatric spinal GBM to assess outcomes and identify prognostic factors related to treatment...
- Pre- and post-operative plasma glial fibrillary acidic protein levels in patients with newly diagnosed gliomasHatim Husain
Brain Cancer Program, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Johns Hopkins University School of Medicine, Cancer Research Building II, 1550 Orleans Street, 1M 16, Baltimore, MD, 21287, USA
J Neurooncol 109:123-7. 2012..GFAP remains a potentially informative plasma biomarker for gliomas. Longitudinal studies are required to correlate pGFAP levels with patient outcomes...
- Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1Nishant Agrawal
Department of Otolaryngology Head and Neck Surgery, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA
Science 333:1154-7. 2011..Nearly 40% of the 28 mutations identified in NOTCH1 were predicted to truncate the gene product, suggesting that NOTCH1 may function as a tumor suppressor gene rather than an oncogene in this tumor type...
- Intramedullary tumoral calcinosisVivek A Mehta
Division of Pediatric Neurosurgery, Department of Neurosurgery, The Johns Hopkins Hospital, Baltimore, Maryland 21287, USA
J Neurosurg Pediatr 5:630-5. 2010..Additionally, salient features of the TC diagnosis, radiological patterns, histological findings, treatment, and outcomes are discussed...