A5003481741- Glioma Diagnosis and Treatment
- Chromatin Remodeling and Cancer
- Neuroblastoma Research and Treatments
- Brain Metastases and Treatment
- Sarcoma Diagnosis and Treatment
- Meningioma and schwannoma management
- Fibroblast Growth Factor Research
- Epigenetics and DNA Methylation
- Neuroendocrine Tumor Research Advances
- Neurofibromatosis and Schwannoma Cases
- Cardiac tumors and thrombi
- Porphyrin Metabolism and Disorders
- Gestational Trophoblastic Disease Studies
- Cancer Genomics and Diagnostics
- Cancer, Hypoxia, and Metabolism
- Iron Metabolism and Disorders
- Head and Neck Surgical Oncology
- Cancer Mechanisms and Therapy
- Neurological diseases and metabolism
- Bone Tumor Diagnosis and Treatments
- Cancer-related Molecular Pathways
- Congenital Diaphragmatic Hernia Studies
- Soft tissue tumor case studies
- Tumors and Oncological Cases
- Medical Imaging and Pathology Studies
St. Jude Children's Research Hospital
2024
University of California, San Francisco
2017-2023
Abstract High‐grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication (HGNET ex15 ITD) is a recently proposed entity of the central nervous system (CNS) distinct methylation profile and characteristic genetic alteration. The complete spectrum histologic features, accompanying alterations, clinical outcomes, optimal treatment for this new are largely unknown. Here, we performed comprehensive assessment 10 cases HGNET ITD. tumors mostly occurred in young children were located...
Intracranial mesenchymal tumors with FET-CREB fusions are a recently described group of neoplasms in children and young adults characterized by fusion FET family gene (usually EWSR1, but rarely FUS) to CREB transcription factor (ATF1, CREB1, or CREM), have been variously termed intracranial angiomatoid fibrous histiocytoma myxoid tumor. The clinical outcomes, histologic features, genomic landscape not well defined. Here, we studied 20 patients proven harbor next-generation sequencing (NGS)....
Abstract “Myxoid glioneuronal tumor, PDGFRA p.K385‐mutant” is a recently described tumor entity of the central nervous system with predilection for origin in septum pellucidum and defining dinucleotide mutation at codon 385 oncogene replacing lysine either leucine or isoleucine (p.K385L/I). Clinical outcomes optimal treatment this new have yet to be defined. Here, we report comprehensive clinical, radiologic, histopathologic assessment eight cases. In addition its stereotypic location...
The FGFR1 gene encoding fibroblast growth factor receptor 1 has emerged as a frequently altered oncogene in the pathogenesis of multiple low-grade neuroepithelial tumor (LGNET) subtypes including pilocytic astrocytoma, dysembryoplastic (DNT), rosette-forming glioneuronal (RGNT), and extraventricular neurocytoma (EVN). These activating alterations LGNET can include tandem duplication exons intracellular tyrosine kinase domain, in-frame fusions most often with TACC1 partner, or hotspot...
Abstract Background Genomic profiling studies of diffuse gliomas have led to new improved classification schemes that better predict patient outcomes compared conventional histomorphology alone. One example is the recognition patients with IDH-wildtype astrocytic demonstrating lower-grade histologic features but genomic and/or epigenomic profile characteristic glioblastoma typically poor similar histologically diagnosed glioblastoma. Here we sought determine clinical impact prospective for...
Abstract Myxopapillary ependymomas ( MPE ) are considered benign (World Health Organization WHO grade I) neoplasms with favorable prognosis. However, malignant behavior occurs in a small subset. To our knowledge, only five anaplastic s have been reported without consensus on diagnostic criteria. We retrieved 14 from the pathology archives of six institutions. Each tumor included at least two following features: ≥5 mitoses per 10 high power fields, Ki‐67 labeling index LI ≥10%, microvascular...
Abstract ‘Intracranial mesenchymal tumor, FET‐CREB fusion‐positive’ occurs primarily in children and young adults has previously been termed intracranial angiomatoid fibrous histiocytoma (AFH) or myxoid tumor (IMMT). Here we performed genome‐wide DNA methylation array profiling of 20 primary tumors with fusion to further study their ontology. These resolved into two distinct epigenetic subgroups that were both divergent from all other analyzed neoplasms soft tissue sarcomas, including...
Desmoplastic small round cell tumors (DSRCTs) are highly aggressive sarcomas that most commonly occur intra-abdominally, and defined by EWSR1-WT1 gene fusion. Intracranial DSRCTs exceptionally rare with only seven previously reported fusion-positive cases. Herein, we evaluate the clinical, morphologic, immunohistochemical molecular features of five additional examples. All patients were male (age range 6-25 years; median 11 years), four located supratentorially one within posterior fossa....
Abstract We present a case of metastatic meningioma detected on 68 Ga-DOTA-octreotate PET. A 52-year-old woman presented with multiply recurrent multifocal meningioma. staging Ga-DOTATATE PET/CT demonstrated focal radiotracer uptake within the known intracranial meningiomas. In addition, DOTATATE-avid mass was found in liver that biopsied, confirming This report suggests should be considered whenever screening patients for metastases.
Abstract Meningiomas are the most common primary intracranial tumors, but meningioma metastases rare. Accordingly, clinical workup, diagnostic testing, and molecular classification of metastatic is incompletely understood. Here, we present a case report multiply recurrent complicated by liver metastasis. We discuss patient presentation, imaging findings, conventional histopathologic characterization both lesion focus. Further, perform multiplatform profiling, comprised DNA methylation arrays...
Ferritin, the iron-storage protein, is composed of light- and heavy-chain subunits, encoded by FTL FTH1, respectively. Heterozygous variants in cause hereditary neuroferritinopathy, a type neurodegeneration with brain iron accumulation (NBIA). Variants FTH1 have not been previously associated neurologic disease. We describe clinical, neuroimaging, neuropathology findings five unrelated pediatric patients de novo heterozygous variants. Children presented developmental delay, epilepsy,...
The authors declare they have no conflict of interest related to this study. Supporting data available from the corresponding author upon reasonable request. Figure S1. A. Patient #2: Multiple meningiomas by MR imaging. B. Histologic images patient's ATRT. Table Review patients with ATRT and germline r(22). S2. Genes included in Comprehensive Solid Tumour Panel. Please note: publisher is not responsible for content or functionality any supporting information supplied authors. Any queries...
Abstract Neuroepithelial tumors with fusion of PLAGL1 or amplification PLAGL1/PLAGL2 have recently been described often ependymoma-like embryonal histology respectively. To further evaluate emerging entities PLAG-family genetic alterations, the histologic, molecular, clinical, and imaging features are for 8 clinical cases encountered at St. Jude ( EWSR1-PLAGL1 n = 6; 1; PLAGL2 1). A histologic feature observed on initial resection in a subset (4/6) supratentorial neuroepithelial...
Journal Article Concurrent Pit-1 and SALL4 staining in primitive component of pituitary blastoma: A case report with clinicopathologic features including Cushing syndrome presentation, germline DICER1 mutation, significant therapeutic response to chemoradiation Get access Julieann C Lee, MD, MD Department Pathology, Neuropathology, St. Jude Children's Research Hospital, Memphis, TN, United States Send correspondence to: C. 262 Danny Thomas Place, TN 38105, States; E-mail: [email protected]...
Abstract Ferritin, the iron storage protein, is composed of light and heavy chain subunits, encoded by FTL FTH1 , respectively. Heterozygous variants in cause hereditary neuroferritinopathy, a type neurodegeneration with brain accumulation (NBIA). Variants have not been previously associated neurologic disease. We describe clinical, neuroimaging, neuropathology findings five unrelated pediatric patients de novo heterozygous variants. Children presented developmental delay, epilepsy,...
Meningioma is the most common radiation-induced brain neoplasm, usually occurring after a latency of 20 - 35 years, with multiplicity in 10% cases. Radiation-induced meningiomas (RIMs) have not previously been reported patients tuberous sclerosis complex (TSC), unlike their well-known occurrence other familial tumor predisposition syndrome patients. We report TSC patient who developed numerous intracranial twenty five year radiation therapy for subependymal giant cell astrocytoma (SEGA)....