Результаты поиска

Mutant IDH1 Dysregulates the Differentiation of Mesenchymal Stem Cells in Association with Gene-Specific Histone Modifications to Cartilage- and Bone-Related Genes.

Somatic mutations in the isocitrate dehydrogenase (IDH)1/2 genes endow encoding proteins with neomorphic activity to produce the potential oncometabolite, 2-hydroxyglutarate (2-HG), which induces the hypermethylation of histones and DNA. The incidence of IDH1/2 mutations in cartilaginous tumors was previously shown to be the highest among various types of tumors, except for those in the central nervous system. Mutations have been detected in both benign (enchondromas) and malignant (chondrosarcomas) types of cartilaginous tumors, whereas they have rarely been found in other mesenchymal tumors

Cerebellar anaplastic astrocytoma in a teenager with Ollier Disease.

INTRODUCTION: Ollier Disease is a sporadic skeletal disorder with a predisposition to oncogenesis. It is estimated at around 1/100,000. We are presenting a young patient with Ollier Disease and high-grade astrocytoma. CASE REPORT: A 14-year-old, Caucasian male with Ollier Disease presented with a history of headaches, vomiting, blurred vision, and unsteady gait. Brain MRI with contrast showed a 41 x 55 mm mass in the posterior fossa with spotty enhancement, which pathology proved to be anaplastic astrocytoma. CONCLUSION: Despite the universal acceptance that Ollier Disease carries a high ris

[Does additive spongiosaplasty improve outcome after surgical therapy for solitary enchondroma in the hand?].

INTRODUCTION: The necessity of spongiosaplasty in the treatment of solitary enchondroma in the hand has been a subject of controversial discussions for several years. Over a period of 10 years the authors performed single curettage without spongiosaplasty. The aim of this study was to investigate our results and to compare these findings with those of other studies. PATIENTS AND METHOD: Over the last 10 years we have treated 106 patients with solitary enchondroma of the hand by single curettage without bone grafting. All patients underwent postoperative radiological examination. The mean foll

Gynecologic Manifestations of Less Commonly Encountered Hereditary Syndromes.

This review covers gynecologic manifestations that may occur in rare hereditary syndromes. Recent advances in disorders, such as hereditary leiomyomatosis, renal cell carcinoma syndrome and tuberous sclerosis complex, are discussed as well as lesions that occur in von Hippel-Lindau syndrome, nevoid basal cell carcinoma syndrome, Cowden syndrome, Ollier disease/Maffucci syndrome, and Carney complex. Characteristic clinicopathologic features of each of these syndromes are discussed with an emphasis on the key features that enable pathologists to identify patients at highest risk for these diseas

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.

Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci syndrome). We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2

[Surgical treatment of short stature of different etiology by the Ilizarov method].

THE AIM OF THE STUDY: To evaluate the results of surgical short stature treatment with distraction osteogenesis using Ilizarov apparatus. MATERIAL AND METHODS: Since 1996 sixteen patients were treated surgically because of short stature (11 male and 5 female) at the age of 9 to 29 years (mean 15.2). The cause of short stature in 6 patients was achondroplasia, 2 - Ellis van Creveld, 2 - Ollier disease, 1 - spondylometaphyseal dysplasia, 1 - hypothyroidism, 1 - pseudoachondroplasia and constitutional short stature - in other 3 patients. The pre-operative height ranged between 103 cm to 155 cm (

Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype.

Achondrogenesis type IA (Houston-Harris) is an extremely rare lethal chondrodysplasia with a characteristic severe disarrangement of endochondral ossification. The growth plate cartilage completely lacks columnar-zone formation and shows chondrocyte expansion due to intracellular vacuoles. This article on a new case of achondrogenesis type IA confirms these findings and demonstrates, on the ultrastructural level, the retention of fine fibrillar material within the rough endoplasmic reticulum (rER). Molecular analysis in the presented case of achondrogenesis type IA did not reveal mutations in

Giant sacral chondrosarcoma in an elderly male : a case report.

UnlabelledPrimary sacral tumours are rare, therefore experience of managing their associated complications are very limited. Effective surgical treatment of pelvic chondrosarcoma remains a major challenge for orthopaedic surgeons, due to the complex anatomic structure of the pelvis, the lack of defined compartment borders, the close vicinity to vital structures, and the risk of jeopardizing pelvic structural stability. We report a rare case of a giant sacral chondrosarcoma (100cm x 80cm) in an elderly male who successfully underwent tumour resection with good functional outcome and recovery. L

Совпадение в полном тексте источника
… Secondary chondrosarcoma can develop from benign lesions such as enchondromatosis or with single or multiple cartilaginous osteochondromas in Maffuci syndrome and Ollier’s disease. Clinical occurrence of chondrosarcoma varies widely. …

Acute myelogenous leukemia associated with Ollier disease.

Ollier disease is a rare disorder characterized by the presence of multiple enchondromas and a propensity to develop malignancies. We report the case of a 7-year-old Caucasian male with Ollier disease who developed acute myelogenous leukemia (AML). This report describes a patient with Ollier disease and AML and may offer a clue into the genetic pathogenesis of these disorders.

Array-comparative genomic hybridization of central chondrosarcoma: identification of ribosomal protein S6 and cyclin-dependent kinase 4 as candidate target genes for genomic aberrations.

BACKGROUND: Enchondromas are benign lesions that can occur as solitary tumors or multiple tumors (Ollier disease) and may be precursors of central chondrosarcomas. Recurrent chondrosarcomas can be of a higher grade compared with primary tumors, suggesting possible progression. METHODS: Genome-wide array-comparative genomic hybridization (CGH) was used to investigate copy number changes in enchondromas and central chondrosarcomas to elucidate both primary genetic events and the events related to tumor progression. Analyses of variance, Student t tests, and hierarchical clustering were used for

cDNA expression profiling of chondrosarcomas: Ollier disease resembles solitary tumours and alteration in genes coding for components of energy metabolism occurs with increasing grade.

Conventional central chondrosarcomas are malignant cartilaginous tumours, occasionally arising secondary to either solitary or multiple (Ollier disease) enchondromas. Recurrences may have progressed in grade. The aims of the present study were to identify putative differences in gene expression between solitary and Ollier disease-related tumours, and to elucidate signalling pathways involved in tumour progression by genome-wide cDNA expression analysis. Arrays enriched for cartilage-specific cDNAs and genes involved in general tumourigenesis were used to analyse enchondromas (n = 3, two with O

СРП 2013

Аннотация не предоставлена источником. Откройте карточку для перехода к публикации.

34th Европейский конгресс патологии - резюме.

Аннотация не предоставлена источником. Откройте карточку для перехода к публикации.

C

Аннотация не предоставлена источником. Откройте карточку для перехода к публикации.