A5001267176- Sarcoma Diagnosis and Treatment
- Vascular Tumors and Angiosarcomas
- Gastrointestinal Tumor Research and Treatment
- Soft tissue tumor case studies
- Neurofibromatosis and Schwannoma Cases
- Cancer-related gene regulation
- Acute Myeloid Leukemia Research
- Bone Tumor Diagnosis and Treatments
- Renal and related cancers
- Gastrointestinal disorders and treatments
- Cardiac tumors and thrombi
- Ubiquitin and proteasome pathways
- Tumors and Oncological Cases
- Hippo pathway signaling and YAP/TAZ
- Oral and Maxillofacial Pathology
- Cancer-related molecular mechanisms research
- Protein Degradation and Inhibitors
- CAR-T cell therapy research
- Lymphoma Diagnosis and Treatment
- Urologic and reproductive health conditions
- Cancer Mechanisms and Therapy
- Virus-based gene therapy research
- Cancer Genomics and Diagnostics
- Vascular Malformations and Hemangiomas
- Soft tissue tumors and treatment
Cleveland Clinic
2015-2024
Cleveland Clinic Lerner College of Medicine
2015-2024
Brunswick (United States)
2022
Albany Research Institute
2022
Providence College
2022
Brigham and Women's Hospital
1997-2021
Harvard University
1998-2021
Cancer Institute (WIA)
2009-2020
University Hospitals Seidman Cancer Center
2020
Clinical Orthopaedics and Related Research
2020
Abstract Purpose: We recently identified a KIT exon 11 mutation in an anorectal melanoma of patient who had excellent response to treatment with imatinib. To determine the frequency mutations across subtypes, we surveyed large series tumors. Experimental Design: One hundred eighty-nine melanomas were screened for exons 11, 13, and 17. copy number was assessed by quantitative PCR. A subset cases evaluated BRAF NRAS mutations. Immunohistochemistry done assess (CD117) expression. Results:...
Oncogenic osteomalacia (OO) is a rare paraneoplastic syndrome of due to phosphate wasting. The phosphaturic mesenchymal tumor (mixed connective tissue variant) (PMTMCT) an extremely rare, distinctive that frequently associated with OO. Despite its association OO, many PMTMCTs go unrecognized because they are erroneously diagnosed as other tumors. Expression fibroblast growth factor-23 (FGF-23), recently described protein putatively implicated in renal tubular loss, has been shown small...
Tenosynovial giant-cell tumor (TGCT) and pigmented villonodular synovitis (PVNS) are related conditions with features of both reactive inflammatory disorders clonal neoplastic proliferations. Chromosomal translocations involving chromosome 1p13 have been reported in TGCT PVNS. We confirm that present a majority cases PVNS show CSF1 is the gene at breakpoint. In some PVNS, fused to COL6A3 (2q35). The result overexpression CSF1. carrying this translocation, it minority intratumoral cells,...
Gastrointestinal stromal tumors (GIST) occur primarily in the wall of intestine and are characterized by activating mutations receptor tyrosine kinases genes KIT or PDGFRA. The diagnosis GIST relies heavily on demonstration KIT/CD117 protein expression immunohistochemistry. However, is absent ∼4% to 15% this can complicate patients who may benefit from treatment with kinase inhibitors. We previously identified DOG1/TMEM16A as a novel marker for using conventional rabbit antipeptide antiserum...
Previous studies have reported clinical correlates for KIT mutations in GISTs, but most of those the were found less than 50% GISTs. The aim this study was to evaluate prognostic relevance a series GISTs which evaluated intensively by genomic and cDNA sequencing.A comprehensive pathologic analysis 48 patients with who had snap-frozen tissue performed. median tumor size 10 cm (range, 2 30 cm). Median follow-up disease-free months. sequenced using nucleic acid templates isolated from frozen...
More than 85% of Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET), or "Ewing family tumors" (EFTs), have the translocation, t (11;22) (q24;q12), with others having variant translocations. Identification these by cytogenetic and/or molecular genetic techniques is specific for EFT and increasingly recognized as "gold standard" diagnosis. However, are not universally available. We therefore studied a large group genetically confirmed EFTs to more completely understand morphologic...
Dermatofibrosarcoma protuberans (DFSP) is a dermal sarcoma typically carrying translocation between chromosomes 17 and 22 that generates functional platelet-derived growth factor B (PDGFB).Two distinct phase II trials of imatinib (400 to 800 mg daily) in patients with locally advanced or metastatic DFSP were conducted closed prematurely, one Europe (European Organisation for Research Treatment Cancer [EORTC]) 14-week progression-free rate as the primary end point other North America...
S100 protein is a sensitive marker for melanomas and peripheral nerve sheath tumors. It is, however, expressed by other mesenchymal epithelial Despite its low specificity, valuable the diagnosis of desmoplastic tumors, which no specific available. Sox10 neural crest transcription factor crucial specification, maturation, maintenance Schwann cells melanocytes. Anti-Sox10 antibody was applied to variety crest-derived neoplasms, normal tissues. nuclear expression found in 76 78 (97%) 38 77...
A newly identified gene fusion defines the vascular cancer epithelioid hemangioendothelioma and encodes a chimeric transcription factor.
Cancer cells contain numerous clonal mutations, i.e., mutations that are present in most or all malignant of a tumor and have presumably been selected because they confer proliferative advantage. An important question is whether cancer also large number random randomly distributed unselected occur only one few tumor. Such could contribute to the morphologic functional heterogeneity cancers include resistance therapy. We postulated exhibit mutator phenotype resulting generation throughout...
Most prior studies of primary diagnosis in surgical pathology using whole slide imaging (WSI) versus microscopy have focused on specific organ systems or included relatively few cases. The objective this study was to demonstrate that WSI is noninferior for pathology. A blinded randomized noninferiority conducted across the entire range cases (biopsies and resections, including hematoxylin eosin, immunohistochemistry, special stains) from 4 institutions original sign-out (baseline diagnosis)...
Synovial sarcoma is a soft tissue malignancy defined by the SYT-SSX fusion oncogene. Demonstration of t(X;18) cytogenetics, fluorescence in situ hybridization or reverse-transcriptase polymerase chain reaction has become gold standard for diagnosis, but practical considerations limit availability these methods. Gene expression profiling studies performed several independent groups have consistently identified TLE1 as an excellent discriminator synovial from other sarcomas, including...
The NCCN Guidelines for Soft Tissue Sarcoma provide recommendations the diagnosis, evaluation, treatment, and follow-up patients with soft tissue sarcomas. These Insights summarize panel discussion behind recent important updates to guidelines, including development of a separate distinct guideline gastrointestinal stromal tumors (GISTs); reconception management desmoid tumors; inclusion further diagnosis extremity/body wall, head/neck sarcomas, retroperitoneal sarcomas; modification...
A cancer-promoting histone protein Mutations in the chromatin H3 are found a number of pediatric cancers. The lysine-36–to–methionine (K36M) “oncohistone” mutation is seen almost all chondroblastomas. Fang et al. show that K36M mutant histones inhibit normal methylation this same residue wild-type histones. They do so by interfering with enzymes normally methylate residue. altered patterns alter expression known cancer-related genes and impart characteristics to chondrocyte cells. Science ,...