Search results for "Chondroma"

showing 10 items of 20 documents

Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas

2015

Multiple osteochondromas (MO) is an autosomal-dominant skeletal disorder caused by mutations in the exostosin-1 ( EXT1 ) or exostosin-2 ( EXT2 ) genes. In this study, we report the analysis of the mutational status of the EXT2 gene in tumor samples derived from a patient affected by hereditary MO, documenting the somatic loss of the germline mutation in a giant chondrosarcoma and in a rapidly growing osteochondroma. The sequencing of all exons and exon–intron junctions of the EXT1 and EXT2 genes from blood DNA of the proband did not reveal any mutation in the EXT1 gene but did demonstrate the presence of the transition point mutation c.67C > T in the EXT2 gene, determining the introduction …

AdultMaleOsteochondromaCancer ResearchMultiple osteochondromaSettore MED/06 - Oncologia MedicaChondrosarcomaLoss of HeterozygositySettore BIO/11 - Biologia MolecolareBone NeoplasmsGene mutationBiologyN-Acetylglucosaminyltransferasesmedicine.disease_causeGermlineLoss of heterozygosityGermline mutationGeneticChondrosarcoma; Hereditary cancer; Hereditary multiple osteochondromas; Tumor suppressor gene; Molecular Biology; Genetics; Cancer ResearchSkeletal disorderGeneticsmedicineHumansTumor suppressor geneHereditary multiple osteochondromaMolecular BiologyGeneticsMutationChromosomes Human Pair 11DNA Neoplasmmedicine.diseaseHereditary cancerSettore MED/18 - Chirurgia GeneraleSettore MED/03 - Genetica MedicaMutationDisease ProgressionCancer Genetics
researchProduct

Rare sacral space-occupying lesions, their surgical management and reconstructive measures involved

1988

Nine cases of space-occupying lesions of the sacral bone are presented. The problems of the clinical diagnosis, which in many cases comes too late, are discussed together with the indications for surgical treatment in this special group of tumours. The main clues are provided by the changes in the X-rays as well as the more modern imaging techniques (CT and MRI). The surgical technique aims at a most radical tumour removal with preservation of the sacral nerve roots, after which stabilisation of the sometimes weakened pelvic girdle may be necessary. The good prospects of complete removal of these tumours of the sacrum with satisfactory results seem to be very little known and justifies furt…

AdultMaleSacrummedicine.medical_specialtySacral BonemedicineHumansSurgical treatmentAgedNeuroradiologySpinal NeoplasmsPelvic girdlemedicine.diagnostic_testbusiness.industryCarcinomaInterventional radiologyMiddle AgedSacrumSurgerybody regionsEpendymomaClinical diagnosisFemaleSurgeryNeurology (clinical)NeurosurgeryTomography X-Ray ComputedbusinessChondromaActa Neurochirurgica
researchProduct

Bilateral synovial chondromatosis of the temporomandibular joint.

2009

Abstract Purpose To report an exceptional case of bilateral synovial chondromatosis (SC) of the temporomandibular joint (TMJ) and discuss diagnostic approaches, treatment options and follow-up data. Patients and methods A 38-year-old woman presented with left preauricular swelling. Initial imaging studies revealed TMJ effusion only. Six years later, synovial calcifications were detected in the left TMJ; the right TMJ space was widened and presented incipient calcium deposits. Open arthrotomy of the left TMJ was performed, with removal of multiple cartilaginous loose bodies and complete synovectomy. Periodic controls proved the asynchronic development of intra-articular bodies in the right T…

Adultmedicine.medical_specialtymedicine.medical_treatmentSynovectomyOsteochondromatosisArthroplastyDiagnosis Differentialstomatognathic systemSynovial chondromatosisFacial PainSynovectomyArthropathyMedicineHumansHearing LossArthrotomymedicine.diagnostic_testTemporomandibular Jointbusiness.industryHeadacheMagnetic resonance imagingTemporomandibular Joint Disordersmedicine.diseaseMagnetic Resonance ImagingSurgeryTemporomandibular jointstomatognathic diseasesmedicine.anatomical_structureOtorhinolaryngologySurgeryChondromatosisFemaleOral SurgerybusinessTomography X-Ray ComputedChondromatosis SynovialJournal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
researchProduct

Effects of Interobserver Variability on 2D and 3D CT- and MRI-Based Texture Feature Reproducibility of Cartilaginous Bone Tumors

2021

AbstractThis study aims to investigate the influence of interobserver manual segmentation variability on the reproducibility of 2D and 3D unenhanced computed tomography (CT)- and magnetic resonance imaging (MRI)-based texture analysis. Thirty patients with cartilaginous bone tumors (10 enchondromas, 10 atypical cartilaginous tumors, 10 chondrosarcomas) were retrospectively included. Three radiologists independently performed manual contour-focused segmentation on unenhanced CT and T1-weighted and T2-weighted MRI by drawing both a 2D region of interest (ROI) on the slice showing the largest tumor area and a 3D ROI including the whole tumor volume. Additionally, a marginal erosion was applied…

Artificial intelligenceFuture studiesIntraclass correlationChondrosarcomaBone NeoplasmsArticleRegion of interestNeoplasmsArtificial intelligence Chondroma Chondrosarcoma Neoplasms Radiomics Texture analysisHumansMedicineRadiology Nuclear Medicine and imagingSegmentationTexture featureRetrospective StudiesObserver VariationReproducibilityRadiomicsRadiological and Ultrasound Technologymedicine.diagnostic_testbusiness.industryReproducibility of ResultsMagnetic resonance imagingmedicine.diseaseMagnetic Resonance ImagingComputer Science ApplicationsTexture analysisFeature (computer vision)ChondrosarcomaTomography X-Ray ComputedbusinessNuclear medicineChondromaChondromaJournal of Digital Imaging
researchProduct

Osteocondroma solitario de la escápula: localización poco habitual para un tumor frecuente

2021

Osteochondroma is a benign bone tumor that usually affects children and young adults. It is typically located in the metaphysis of long bones around the knee, although it could also affect flat bones like scapula. We report the case of a 11-year-old child with one year of evolution painful tumor at the dorsal surface of the scapula. He was diagnosed with osteochondroma of the scapula, uncommon location for this tumor. Due to the persistence of the symptomatology surgical excision was performed.

DorsumOsteochondromaSolitary Osteochondromabusiness.industryAnatomyMetaphysismusculoskeletal systemmedicine.diseasebody regionsmedicine.anatomical_structureScapulaPediatrics Perinatology and Child HealthMedicineSurgical excisionbusinessArchivos Argentinos de Pediatria
researchProduct

Radiologie des gastrointestinalen Stromatumors (GIST). Gleichzeitig ein Beitrag zum Carney-Syndrom

2000

Gastrointestinal stromal tumors (GIST) represent an extremely rare group of tumors, which are mostly of smooth muscle origin like leiomyomas, leiomyosarcomas and leiomyoblastomas. With the introduction of immunohistochemical analysis an epitheloid and an autonomic nerve variant can be distinguished. The purpose of this review is to demonstrate the image morphological appearance of these rare tumors together with the pathology based upon a retrospective analysis of five of our own cases since 1997. There are no pathognomonic imaging findings for characterizing a gastrointestinal stromal tumor; however, it should be included in the differential diagnosis if one or multiple large, round or ova…

LeiomyosarcomaPathologymedicine.medical_specialtyGiSTbusiness.industrymedicine.diseaseGastric LeiomyosarcomaParagangliomaPathognomonicmedicineRadiology Nuclear Medicine and imagingStromal tumorDifferential diagnosisbusinessChondromaRöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren
researchProduct

Two peculiar types of enchondromatosis.

1978

On the basis of 3 personal observations and of 6 cases from the literature, two peculiar types of enchondromatosis are delineated: 1. Enchondromatosis with generalized, irregular vertebral lesions, and 2. Generalized enchondromatosis with mild platyspondyly.

Malebusiness.industryAnatomymedicine.diseaseOsteochondrodysplasiasBone and BonesRadiographyChild PreschoolPediatrics Perinatology and Child HealthEnchondromatosismedicineHumansRadiology Nuclear Medicine and imagingMild platyspondylybusinessChildOllier diseasePediatric radiology
researchProduct

A rare case of Enchondromatosis of the knees and hands with involvement of Hoffa's fat pad and peri-articular soft-tissues

2013

We report a case of a 56-year old man with chronic pain in both knees for several years. This patient had already undergone surgery on his left knee in 2002 after an x-ray showed multiple lytic and well margined lesions in the distal femur and proximal tibia with ground-glass matrix, involving Hoffa's fat pad and the patellar ligament. Histology was consistent with an enchondroma. The most recent MRI examination showed enchondromatosis involving both knees with bilateral extension into Hoffa's fat pad and the patellar ligament. Subsequently, we performed an additional radiographic examination of the hands and feet, as well as an MRI of both hands to identify other possible enchondromas in t…

Malemusculoskeletal diseasesRadiographyEnchondromaOllier diseaseFat padPatellar LigamentEnchondromamedicineEnchondromatosisHumansKneeRadiology Nuclear Medicine and imagingOllier diseaseEnchondromatosibusiness.industryPatellar ligamentSoft tissueBenign hyaline tumour; Chondroma; Enchondroma; Enchondromatosis; Hoffa's fat pad; Ollier disease; Adipose Tissue; Enchondromatosis; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Patellar Ligament; Hand; Knee; Radiology Nuclear Medicine and ImagingEnchondromatosisAnatomyMiddle AgedHandmusculoskeletal systemmedicine.diseaseMagnetic Resonance Imagingmedicine.anatomical_structureAdipose TissueMusculoskeletal RadiologyBenign hyaline tumourHoffa's fat padbusinessChondromaHumanChondromaJournal of Radiology Case Reports
researchProduct

Diagnostic Performance and Radiation Dose of the EOS System to Image Enchondromatosis: A Phantom Study

2020

Background: Radiation doses and capability of EOS, conventional radiography (CR), and computed tomography (CT) to detect and measure enchondromas in a dedicated five-year-old anthropomorphic phantom were compared. Methods: To simulate enchondromas, minced pieces of chicken bone and cartilage were packed in conventional kitchen plastic foil to create ovoidal/rounded masses and randomly hung on the phantom. The phantom was imaged five times with CR, CT, and EOS, each time changing the number and position of inserts. All images were reviewed by a senior radiologist and a radiology resident. Results: EOS and CR detected all inserts in 4/5 cases (80%), while in one case 1/17 inserts was not seen…

Materials scienceComputed tomographylcsh:TechnologyImaging phantom030218 nuclear medicine & medical imagingenchondromalcsh:Chemistry03 medical and health sciences0302 clinical medicineEnchondromatosismedicineGeneral Materials Sciencelcsh:QH301-705.5InstrumentationFluid Flow and Transfer ProcessesReproducibilitymedicine.diagnostic_testlcsh:Tbusiness.industryEOSProcess Chemistry and TechnologyRadiation doseGeneral Engineeringcomputed tomographyRepeatabilityphantommedicine.diseaseconventional radiographylcsh:QC1-999Computer Science ApplicationsConventional radiographylcsh:Biology (General)lcsh:QD1-999lcsh:TA1-2040Anthropomorphic phantomlcsh:Engineering (General). Civil engineering (General)Nuclear medicinebusinessradiation doselcsh:Physics030217 neurology & neurosurgeryApplied Sciences
researchProduct

Temporomandibular arthropathies : a retrospective study with histopathological characteristics

2018

Background To investigate the incidence of temporomandibular arthropathies diagnosed in a university center and to describe their histopathological characteristics. Material and Methods Temporomandibular arthropathy cases with corresponding slides were selected from an oral and maxillofacial surgical pathology service. Cases of exclusively articular disc disease were not included. Results The mean age was 31.3 years with a predominance of females (69.7%). Of these diagnoses, 53.6% were unilateral condylar hyperplasia, 17.8% were bony ankylosis, 14.3% were degenerative joint disease, 10.7% were osteochondroma, and 3.6% were synovial chondromatosis. Condylar hyperplasia presented as thick fib…

OsteochondromaAdultPathologymedicine.medical_specialtyCallus formationTooth AnkylosisSynovial chondromatosismedicineCartilaginous TissueHumansGeneral DentistryRetrospective StudiesOral Medicine and PathologyTemporomandibular JointHyaline cartilagebusiness.industryResearchMandibular CondyleTemporomandibular Joint Disorders:CIENCIAS MÉDICAS [UNESCO]medicine.diseaseTemporomandibular jointmedicine.anatomical_structureOtorhinolaryngologyUNESCO::CIENCIAS MÉDICASFibrocartilageSurgeryChondromatosisFemalebusinessChondromatosis Synovial
researchProduct