Search results for " fusion"
showing 10 items of 1303 documents
Variation in genomic landscape of clear cell renal cell carcinoma across Europe
2014
The incidence of renal cell carcinoma (RCC) is increasing worldwide, and its prevalence is particularly high in some parts of Central Europe. Here we undertake whole-genome and transcriptome sequencing of clear cell RCC (ccRCC), the most common form of the disease, in patients from four different European countries with contrasting disease incidence to explore the underlying genomic architecture of RCC. Our findings support previous reports on frequent aberrations in the epigenetic machinery and PI3K/mTOR signalling, and uncover novel pathways and genes affected by recurrent mutations and abnormal transcriptome patterns including focal adhesion, components of extracellular matrix (ECM) and …
Dermatofibrosarcoma protuberans: clinical, pathological, and genetic (COL1A1-PDGFB ) study with therapeutic implications.
2009
Aims: To analyse the presence of collagen type I alpha 1–platelet-derived growth factor beta (COL1A1–PDGFB) transcripts in 20 cases of dermatofibrosarcoma protuberans (DFSP) and to assess the relationship between COL1A1 breakpoints and clinical and histopathological variables. Methods and results: Multiplex reverse transcriptase-polymerase chain reaction was carried out using frozen tissue. Our series contained 14 men and six women. Histologically, most cases were of conventional type (n = 9), followed by fibrosarcoma (n = 4), Bednar tumour (n = 2), sclerosing (n = 2), myoid (n = 1) and atrophic (n = 1) DFSP, and giant cell fibroblastoma (n = 1). Immunohistochemistry revealed CD34 express…
Atypical Pleomorphic Extraosseous Ewing Tumor/Peripheral Primitive Neuroectodermal Tumor with Unusual Phenotypic/Genotypic Profile
2002
A pleomorphic undifferentiated tumor primarily located in the retroperitoneum with a phenotype compatible with an extraosseous Ewing tumor/peripheral primitive neuroectodermal tumor (ET/pPNET) pattern and unusual molecular features is described. Immunohistochemically, HBA-71 (CD99/mic2) and several neural markers were intensively expressed together with scattered cells expressing carcinoembryonic antigen (CEA). Short-term culture showed biphasic neuroblastic and epithelioid cell populations, with the latter expressing germ cell markers (CEA, alpha-fetoprotein, and the beta-subunit of chorionic gonadotrophin). Conventional cytogenetics displayed several chromosomic rearrangements, especially…
A poorly differentiated synovial sarcoma (SYT/SSX1) expresses neuroectodermal markers: a xenografts and in vitro culture study.
2004
Synovial sarcoma (SS) is a neoplasm that poses diagnostic problems, due to its histologic heterogeneity. The poorly differentiated variant, in particular, may be histologically indistinguishable from other small round cell tumors. Detection of the synovial sarcoma-associated t(X;18) or SYT-SSX fusion transcripts may be necessary to confirm the diagnosis of SS in difficult cases. Most of SS carry a t(X;18) in about one third of cases as the sole cytogenetic abnormality. We evaluated a case of poorly differentiated synovial sarcoma and their derived tumors in nude mice xenografts and cell cultures. We used a panel of antibodies (including those to intermediate filament, nerve-sheath associate…
Ewing-like sarcoma with CIC-DUX4 gene fusion in a patient with neurofibromatosis type 1. A hitherto unreported association.
2015
Sarcoma with CIC-DUX4 gene fusion is emerging as the most prevalent subset of Ewing-like undifferentiated small round cell sarcomas with around 50 cases published. We report hereby the case of a 40-year-old male who presented a CIC-DUX4 sarcoma in deep soft tissues in his thigh. He had been diagnosed with neurofibromatosis type 1 at age 19 and over the years underwent resection of multiple neural neoplasms, including two malignant peripheral nerve sheath tumors with classical spindle-cell histopathology. The CIC-DUX4 sarcoma was treated with surgical resection, radiation and chemotherapy, but lung and brain metastases developed and the patient died from the disease 14 months after diagnosis…
Decompression/Stabilization of the Metastatic Spine: Cotrel-Dubousset-Lnstrumentation in 50 Patients Jan
1993
50 patients with metastatic disease of the spine underwent dorsal decompression and stabilization with the Cotrel-Dubousset-Instrumentation from 1987 to 1991. Indications for surgical treatment were neurologic deficit, spinal instability, and/or pain resistant to medical or radiation treatment. No external orthotics were used postoperatively. Pain was relieved dramatically in 45 patients. Among 25 patients suffering from neurologic deficit preoperatively, 13 improved, 15 remained unchanged, whereas 2 developed an incomplete, transient paraplegia. 15 (7) patients were alive after 1 (2) years. Postoperative complications were frequent, but there were only 2 failures of the stabilization devic…
Reoperation Rates Following Instrumented Lumbar Spine Fusion
2018
Study Design. A prospective cohort study. Objective. This study evaluated the cumulative reoperation rate and indications for reoperation following instrumented lumbar spine fusion (LSF). Summary of Background Data. LSF reduces disability and improves health-related quality of life for patients with several spinal disorders. The rate of instrumented LSF has drastically increased over the last few decades. The increased incidence of LSF, however, has led to increased reoperation rates. Methods. The data are based on the prospective LSF database of Tampere University Hospital that includes all elective indications for LSF surgery. A total of 433 consecutive patients (64% women, mean age 62 ye…
Novel rearrangements involving the RET gene in papillary thyroid carcinoma.
2018
Abstract Background In the field of gene fusions driving tumorigenesis in papillary thyroid carcinoma (PTC), rearrangement of the proto-oncogene RET is the most frequent alteration. Apart from the most common rearrangement of RET to CCDC6, more than 15 partner genes are yet reported. The landscape of RET rearrangements in PTC (“RET-PTC”) can notably be enlarged by modern targeted next-generation sequencing, indicating similarities between oncogenic pathways in other cancer types with identical genetic alterations. Methods Targeted next-generation sequencing was performed for two cases of BRAF-wild type PTC with confirmation of the results by Sanger sequencing. A “UniProt” database research …
Changes in Health Utility, Disability, and Health-Related Quality of Life in Patients After Spinal Fusion
2014
STUDY DESIGN Prospective longitudinal database study. OBJECTIVE To evaluate changes in health utility, disability, and health-related quality of life (HRQOL) in patients undergoing spinal fusion. SUMMARY OF BACKGROUND DATA Recently, measuring disability, HRQOL, and health utility has become important when defining the value of surgical interventions. METHODS Data of spinal fusion patients from a prospective longitudinal database were analyzed. Health utility was captured by SF-6D (six dimensional health state classification from the 36-dimensional Short Form Health Survey) score, disability by Oswestry Disability Index, and HRQOL by the 36-Item Short Form Health Survey. The changes in these…
Autoantibodies to the islet antigen ICA69 occur in IDDM and in rheumatoid arthritis.
1995
Islet cell antigen (ICA) 69 is a newly-recognized islet cell antigen to which autoantibodies have been observed in prediabetic relatives of patients with insulin-dependent-diabetes mellitus (IDDM). Here we extend the earlier analysis of ICA69 antibodies to patients with recent-onset IDDM and to patients with other immune-mediated diseases. ICA69 antibodies were determined by Western blot using an affinity purified recombinant fusion protein of ICA69 and maltose binding protein. ICA69 antibody quantities were determined as titres using a titration curve of a standard serum as reference. Mean logarithmic ICA69 antibody titres were 3.4 (+/- 1.4) in 99 patients with acute IDDM compared to 2.8 (…