Faculty Bibliography
Searched for:
person:karajm01
Total Results:
180
New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs
Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly aggressive, poorly differentiated embryonal tumors occurring predominantly in young children but also affecting adolescents and adults. Herein, we demonstrate that a significant proportion of institutionally diagnosed CNS-PNETs display molecular profiles indistinguishable from those of various other well-defined CNS tumor entities, facilitating diagnosis and appropriate therapy for patients with these tumors. From the remaining fraction of CNS-PNETs, we identify four new CNS tumor entities, each associated with a recurrent genetic alteration and distinct histopathological and clinical features. These new molecular entities, designated "CNS neuroblastoma with FOXR2 activation (CNS NB-FOXR2)," "CNS Ewing sarcoma family tumor with CIC alteration (CNS EFT-CIC)," "CNS high-grade neuroepithelial tumor with MN1 alteration (CNS HGNET-MN1)," and "CNS high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)," will enable meaningful clinical trials and the development of therapeutic strategies for patients affected by poorly differentiated CNS tumors.
PMCID:5139621
PMID: 26919435
ISSN: 1097-4172
CID: 1965622
Advancing methylation profiling in neuropathology: Diagnosis and clinical management [Meeting Abstract]
ISI:000369082700032
ISSN: 1557-3265
CID: 2687512
Pediatric Brain Tumors: Innovative Genomic Information Is Transforming the Diagnostic and Clinical Landscape
Pediatric neuro-oncology has undergone an exciting and dramatic transformation during the past 5 years. This article summarizes data from collaborative group and institutional trials that have advanced the science of pediatric brain tumors and survival of patients with these tumors. Advanced genomic analysis of the entire spectrum of pediatric brain tumors has heralded an era in which stakeholders in the pediatric neuro-oncology community are being challenged to reconsider their current research and diagnostic and treatment strategies. The incorporation of this new information into the next-generation treatment protocols will unleash new challenges. This review succinctly summarizes the key advances in our understanding of the common pediatric brain tumors (ie, medulloblastoma, low- and high-grade gliomas, diffuse intrinsic pontine glioma, and ependymoma) and some selected rare tumors (ie, atypical teratoid/rhabdoid tumor and CNS primitive neuroectodermal tumor). The potential impact of this new information on future clinical protocols also is discussed. Cutting-edge genomics technologies and the information gained from such studies are facilitating the identification of molecularly defined subgroups within patients with particular pediatric brain tumors. The number of evaluable patients in each subgroup is small, particularly in the subgroups of rare diseases. Therefore, international collaboration will be crucial to draw meaningful conclusions about novel approaches to treating pediatric brain tumors.
PMCID:4567701
PMID: 26304884
ISSN: 1527-7755
CID: 1742102
NOVEL CANDIDATE ONCOGENIC DRIVERS IN PINEOBLASTOMA [Meeting Abstract]
ISI:000361304800094
ISSN: 1523-5866
CID: 2687502
EFFECTS OF EVEROLIMUS ON MENINGIOMA GROWTH IN PATIENTS WITH NEUROFIBROMATOSIS TYPE 2 [Meeting Abstract]
ISI:000361304800159
ISSN: 1522-8517
CID: 2964282
Implementing 450k Methylation Array in Neuropathology: Implications for Diagnosis and Clinical Management [Meeting Abstract]
ISI:000354824800039
ISSN: 0022-3069
CID: 1620152
Desmoplastic Infantile Astrocytoma/Desmoplastic Infantile Ganglioglioma and Pleomorphic Astrocytoma show Distinct Epigenetic Profiles [Meeting Abstract]
ISI:000354824800133
ISSN: 0022-3069
CID: 1620162
Novel Candidate Oncogenic Drivers in Pineoblastoma [Meeting Abstract]
ISI:000354824800135
ISSN: 0022-3069
CID: 1620172
Genomic and Epigenetic Landscape of Sudden Unexpected Death in Epilepsy [Meeting Abstract]
ISI:000354824800017
ISSN: 0022-3069
CID: 1620452
Molecular Classification of Ependymal Tumors across All CNS Compartments, Histopathological Grades, and Age Groups
Ependymal tumors across age groups are currently classified and graded solely by histopathology. It is, however, commonly accepted that this classification scheme has limited clinical utility based on its lack of reproducibility in predicting patients' outcome. We aimed at establishing a uniform molecular classification using DNA methylation profiling. Nine molecular subgroups were identified in a large cohort of 500 tumors, 3 in each anatomical compartment of the CNS, spine, posterior fossa, supratentorial. Two supratentorial subgroups are characterized by prototypic fusion genes involving RELA and YAP1, respectively. Regarding clinical associations, the molecular classification proposed herein outperforms the current histopathological classification and thus might serve as a basis for the next World Health Organization classification of CNS tumors.
PMCID:4712639
PMID: 25965575
ISSN: 1878-3686
CID: 1578762
