Genomes and Genes
Fausto J Rodriguez
Affiliation: Johns Hopkins University
- Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromesFausto J Rodriguez
Division of Neuropathology, Department of Pathology, Johns Hopkins University, 720 Rutland Avenue, Ross Building, 512B, Baltimore, MD 21205, USA
Acta Neuropathol 123:349-67. 2012..In this review, we provide a concise update on the diagnostic criteria, pathology and molecular pathogenesis of these enigmatic syndromes in relation to peripheral nerve sheath neoplasia...
- Recent Advances on the Molecular Pathology of Glial Neoplasms in Children and AdultsFausto J Rodriguez
Division of Neuropathology, Johns Hopkins University School of Medicine, Baltimore, Maryland Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland Electronic address
J Mol Diagn 18:620-34. 2016..Here, we summarize current concepts in molecular testing for glial tumors, including recent findings by large-scale discovery efforts and technologic advances that are affecting routine diagnostic work. ..
- Immunohistochemistry is highly sensitive and specific for detection of BRAF V600E mutation in pleomorphic xanthoastrocytomaCristiane M Ida
Departments of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
Acta Neuropathol Commun 1:20. 2013..BRAF V600E mutation status was assessed by allele-specific polymerase chain reaction (PCR) with fragment analysis...
- Increased 5-hydroxymethylcytosine and decreased 5-methylcytosine are indicators of global epigenetic dysregulation in diffuse intrinsic pontine gliomaSama Ahsan
Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins Hospital, 1800 Orleans St, 21287 Baltimore, MD, USA
Acta Neuropathol Commun 2:59. 2014..An H-score was derived by multiplying intensity (0-2) by percentage of positive tumor nuclei (0-100%)...
- Rosette forming glioneuronal tumor in association with Noonan syndrome: pathobiological implicationsM Karafin
Department of Pathology, Division of Neuropathology, and Neurosurgery, Johns Hopkins University, Baltimore, MD, USA
Clin Neuropathol 30:297-300. 2011..We review the literature regarding the molecular pathogenesis of Noonan syndrome and primary brain tumors, and consider the intriguing link between their common molecular pathways...
- Activation of mTORC1/mTORC2 signaling in pediatric low-grade glioma and pilocytic astrocytoma reveals mTOR as a therapeutic targetMarianne Hütt-Cabezas
Corresponding Authors Fausto J Rodriguez, MD, Division of Neuropathology, Johns Hopkins Hospital, 1800 Orleans Street, Baltimore, MD 21231 Eric H Raabe, MD, PhD, Division of Neuropathology, Johns Hopkins Hospital, 1800 Orleans Street, Baltimore, MD 21231
Neuro Oncol 15:1604-14. 2013..Here we further evaluate the role of the mTORC1/mTORC2 pathway in order to better direct pharmacologic blockade in these common childhood tumors...
- BRAF duplications and MAPK pathway activation are frequent in gliomas of the optic nerve properFausto J Rodriguez
Department of Pathology, Johns Hopkins Hospital, Baltimore, Maryland 21205, USA
J Neuropathol Exp Neurol 71:789-94. 2012....
- Disseminated oligodendroglial-like leptomeningeal tumor of childhood: a distinctive clinicopathologic entityFausto J Rodriguez
Department of Pathology, Division of Neuropathology, Johns Hopkins Hospital, Johns Hopkins University, Baltimore, MD, 21231, USA
Acta Neuropathol 124:627-41. 2012..We report a series of a neoplasm with distinct clinicopathologic and molecular features. Although most progress slowly, a significant fraction develop aggressive features...
- Neoplastic cells are a rare component in human glioblastoma microvasculatureFausto J Rodriguez
Department of Pathology, Division of Neuropathology, Johns Hopkins University, MD, USA
Oncotarget 3:98-106. 2012....
- Pathology of peripheral nerve sheath tumors: diagnostic overview and update on selected diagnostic problemsFausto J Rodriguez
Division of Neuropathology, Department of Pathology, Johns Hopkins University, 720 Rutland Avenue, Ross Building, 512B, Baltimore, MD 21205, USA
Acta Neuropathol 123:295-319. 2012..In the current review, we attempt to provide some useful guidelines for the surgical neuropathologist to help navigate these persistent, challenging problems...
- Superficial neurofibromas in the setting of schwannomatosis: nosologic implicationsFausto J Rodriguez
Division of Neuropathology, Department of Pathology, Johns Hopkins University, Baltimore, MD 21205, USA
Acta Neuropathol 121:663-8. 2011..In particular, the presence of a cutaneous neurofibroma in a patient with multiple schwannomas should not lead to a diagnosis of NF2...
- 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....
- cMYC expression in infiltrating gliomas: associations with IDH1 mutations, clinicopathologic features and outcomeYazmin Odia
Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
J Neurooncol 115:249-59. 2013..In summary, our findings suggest that cMYC may be associated with a unique clinicopathologic and biologic group of infiltrating gliomas and help mediate the malignant transformation of IDH1 mutant gliomas...
- Molecular and morphologic correlates of the alternative lengthening of telomeres phenotype in high-grade astrocytomasDoreen N Nguyen
Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Brain Pathol 23:237-43. 2013..Future studies are required to clarify the clinical and biological significance of ALT in high-grade astrocytomas...
- Molecular Analysis of Pediatric Oligodendrogliomas Highlights Genetic Differences with Adult Counterparts and Other Pediatric GliomasDavid Nauen
Department of Pathology, Division of Neuropathology, Johns Hopkins University School of Medicine, Baltimore, MD
Brain Pathol 26:206-14. 2016..2) in two. BRAF-KIAA1549 fusions and BRAF p.V600E mutations were absent (n = 13 and 8). In summary, cytogenetic alterations in pediatric oligodendrogliomas are characterized mostly by genomic losses, particularly in anaplastic tumors...
- 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...
- BRAF alterations in primary glial and glioneuronal neoplasms of the central nervous system with identification of 2 novel KIAA1549:BRAF fusion variantsAlex Lin
Division of Neuropathology, Department of Pathology, Johns Hopkins University, Baltimore, Maryland, USA
J Neuropathol Exp Neurol 71:66-72. 2012..The prognostic and therapeutic significance of this alteration is unclear and merits further study...
- Phenotypic variations in NF1-associated low grade astrocytomas: possible role for increased mTOR activation in a subsetMark Jentoft
Departments of Laboratory Medicine and Pathology, Johns Hopkins University, Baltimore, MD, USA
Int J Clin Exp Pathol 4:43-57. 2010..In summary, differential expression of neuronal-related genes and increased mTOR activation may underlie phenotypic variations in NF1-associated low grade astrocytomas...
- MicroRNA profiling in pediatric pilocytic astrocytoma reveals biologically relevant targets, including PBX3, NFIB, and METAP2Cheng Ying Ho
Division of Neuropathology, Department of Pathology, Johns Hopkins University, Baltimore, Maryland 21231, USA
Neuro Oncol 15:69-82. 2013..A unique miRNA profile exists in PA, compared with brain tissue. These miRNAs and their targets may play a role in the pathogenesis of PA...
- Morphologic characteristics and immunohistochemical profile of diffuse intrinsic pontine gliomasLeomar Y Ballester
Laboratory of Pathology Pediatric Oncology Branch, NCI, NIH, Bethesda Department of Pathology, Division of Neuropathology, Johns Hopkins Hospital, Baltimore, MD Children s National Medical Center, Research Center for Genetic Medicine, Washington, DC
Am J Surg Pathol 37:1357-64. 2013..Targeted therapies against these proteins could be beneficial in treatment. ..
- 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...
- Meningiomas With Rhabdoid Features Lacking Other Histologic Features of Malignancy: A Study of 44 Cases and Review of the LiteratureRachael A Vaubel
From the Department of Anatomic Pathology RAV, CG, Mayo Clinic, Rochester Minnesota Department of Neurosurgery SGC, Mayo Clinic, Jacksonville, Florida Department of Radiation Oncology DRR, IB, University of California, San Francisco, California Department of Neurosurgery MJL, Mayo Clinic, Rochester Minnesota Department of Neurologic Surgery MRC, Washington University, St Louis, Missouri Departments of Biomedical Statistics and Informatics SMJ, Mayo Clinic, Rochester Minnesota, Departments of Biochemistry and Molecular Biology PAA, Mayo Clinic, Rochester Minnesota Department of Pathology FJR, PCB, Johns Hopkins University, Baltimore, Maryland Departments of Pathology and Immunology Anatomic and Molecular Pathology SD, Washington University, St Louis, Missouri Department of Pathology AP, University of California, San Francisco, California
J Neuropathol Exp Neurol 75:44-52. 2016..We suggest that rhabdoid meningiomas be graded analogously to nonrhabdoid tumors, with caution that some may still behave aggressively and close follow-up is recommended. ..
- Notch signaling activation in pediatric low-grade astrocytomaWilliam D Brandt
From the Departments of Pathology WDB, KCS, IT, ER, CGE, FJR, Neuroscience KCS, EEB, and Oncology LM, ER, CGE, FJR, Johns Hopkins University, Baltimore, Maryland and Department of Neurological Surgery, Case Western Reserve University, Cleveland, Ohio EEB
J Neuropathol Exp Neurol 74:121-31. 2015..This study suggests a potential role for Notch signaling in pediatric low-grade astrocytoma tumorigenesis and that Notch signaling may be a viable pathway therapeutic target. ..
- Clinicopathologic implications of NF1 gene alterations in diffuse gliomasM Adelita Vizcaíno
Department of Cellular and Tissue Biology, Faculty of Medicine, UNAM, Mexico City, Mexico 06010 Division of Neuropathology, Johns Hopkins University School of Medicine, 1800 Orleans Street, Baltimore, MD 21231
Hum Pathol 46:1323-30. 2015..NF1 genetic loss occurs in a subset of diffuse gliomas, and its significance deserves further exploration. ..
- The transcriptional modulator HMGA2 promotes stemness and tumorigenicity in glioblastomaHarpreet Kaur
Division of Neuropathology and Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, MD 21287, USA Division of Pediatric Oncology, Johns Hopkins University, Bloomberg Children s Hospital, Room 11379, 1800 Orleans St, Baltimore, MD 21287, USA
Cancer Lett 377:55-64. 2016..Ectopic expression of HMGA2 in GBM cell lines promoted stemness, invasion, and tumorigenicity. Our data suggests that targeting HMGA2 in GBM may be therapeutically beneficial. ..
- Ependymomas with neuronal differentiation: a morphologic and immunohistochemical spectrumFausto J Rodriguez
Department of Pathology, Mayo Clinic, Rochester, MN, USA
Acta Neuropathol 113:313-24. 2007..The clinical significance of these observations is unknown but deserves further exploration...
- Genetic profiling by single-nucleotide polymorphism-based array analysis defines three distinct subtypes of orbital meningiomaCheng Ying Ho
Department of Pathology, Johns Hopkins University, Baltimore, MD Division of Pathology, Children s National Medical Center, Washington, DC
Brain Pathol 25:193-201. 2015..Our study suggests that ON, Ob and Sph-Ob meningiomas are three molecularly distinct entities. Our results also suggest that molecular subclassification may have prognostic implications. ..
- Limited detection of IgH gene rearrangements in plasma of patients with primary central nervous system lymphomaJian He
Ludwig Center for Cancer Genetics and Therapeutics, The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD, USA
J Neurooncol 114:275-9. 2013..Alternative strategies to develop circulating biomarkers for PCNSL patients need to be explored...
- Pathological and molecular advances in pediatric low-grade astrocytomaFausto J Rodriguez
Department of Pathology, Johns Hopkins UniversitySchool of Medicine, Baltimore, Maryland 21205, USA
Annu Rev Pathol 8:361-79. 2013..In this review, we attempt to summarize this rapidly developing field and discuss the potential for translating our growing molecular knowledge into improved diagnostic and prognostic biomarkers and new targeted therapies...
- 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...
- Identification of t(1;19)(q12;p13) and ploidy changes in an ependymosarcoma: a cytogenetic evaluationAbeer Z Tabbarah
Department of Pathology, George Washington University, Washington, D C, USA
Clin Neuropathol 31:142-5. 2012..The significance of the genetic alterations we describe associated with sarcomatoid change in ependymal neoplasms, and ultimately their prognostic relevance, merits further study...
- Clinicopathologic features of pediatric oligodendrogliomas: a series of 50 patientsFausto J Rodriguez
Departments of Pathology Radiology The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, MD Departments of Pathology Neurological Surgery, University of California San Francisco School of Medicine, San Francisco, CA Hospital Pathology Associates, Minneapolis, St Paul, MN University of Arizona, College of Medicine, Phoenix, AZ
Am J Surg Pathol 38:1058-70. 2014..They are predominantly low grade, recur/clinically progress in a subset, but demonstrate a relatively low frequency of histologic progression. ..
- Genetic and pathologic evolution of early secondary gliosarcomaKari Elise T Codispoti
Department of Pathology, Johns Hopkins University, Baltimore, USA
Brain Tumor Pathol 31:40-6. 2014..3qter), and del(16)(p11.2pter). In conclusion, unique copy number alterations were identified during tumor progression from a low-grade glioma to gliosarcoma. A subset of alterations developed specifically in the sarcomatous component. ..
- Histologically benign, clinically aggressive: Progressive non-optic pathway pilocytic astrocytomas in adults with NF1Roy E Strowd
Department of Neurology, Johns Hopkins Hospital, Baltimore, Maryland
Am J Med Genet A 170:1455-61. 2016..Clinicians should be aware of this clinico-histologic discrepancy when counseling and managing adult NF1 patients with progressive extra-optic PAs. © 2016 Wiley Periodicals, Inc. ..
- Next-generation sequencing in neuropathologic diagnosis of infections of the nervous systemSteven L Salzberg
Center for Computational Biology, McKusick Nathans Institute of Genetic Medicine S L S, F P B, Department of Neurology A K, C A P, Deep Sequencing and Microarray Core H H, and Departments of Pathology P B, F J R, C A P, Neurosurgery M L, A Q H, G L G, and Medicine J A T, M T M, C L S, School of Medicine, and Departments of Biomedical Engineering, Computer Science, and Biostatistics S L S, Johns Hopkins University, Baltimore, MD
Neurol Neuroimmunol Neuroinflamm 3:e251. 2016..To determine the feasibility of next-generation sequencing (NGS) microbiome approaches in the diagnosis of infectious disorders in brain or spinal cord biopsies in patients with suspected CNS infections...
- Low grade Schwann cell neoplasms with leptomeningeal dissemination: clinicopathologic and autopsy findingsErika F Rodriguez
Departments of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21231
Hum Pathol . 2016..H3K27M tri-methylation was preserved. The clinicopathologic and autopsy findings are studied and presented, and the literature is reviewed...
- Cytologic features in vitreous preparations of patients with suspicion of intraocular lymphomaErika F Rodriguez
Department of Pathology, Johns Hopkins University, Baltimore, Maryland
Diagn Cytopathol 42:37-44. 2014..The most useful cytologic features include increased cellularity, necrosis, and nuclear enlargement. Ancillary immunocytochemical studies are useful and support the morphologic impression in a subset of cases...
- Cellular pleomorphism in papillary tumors of the pineal regionJuliana Magalhães
Division of Neuropathology, Department of Pathology, Johns Hopkins University, Sheikh Zayed Tower, Room M2101, 1800 Orleans Street, Baltimore, MD 21231, USA
Brain Tumor Pathol 30:93-8. 2013..Variable pleomorphism may be present, reflected in size variation and nuclear hyperchromasia, but was not accompanied by increased proliferative activity in these cases, suggesting a degenerative phenomenon...
- BRAF alterations are frequent in cerebellar low-grade astrocytomas with diffuse growth patternCristiane M Ida
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
J Neuropathol Exp Neurol 71:631-9. 2012....