Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029463 (osteosarcoma)
 16,637 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pagetic sarcoma is a rare anaplastic malignancy with a peak incidence in the seventh and eighth decades of life; it usually occurs in patients with polyostotic Paget's disease. The most common tumor type is osteosarcoma. In one-third of the cases, presentation is a spontaneous pathologic fracture of an affected long bone. Amputation is the most appropriate form of surgical management in most cases because of the aggressive behavior of the sarcoma and its usually late presentation in this elderly population. However, selected patients with extremity lesions may be managed by pre- and postoperative chemotherapy and wide curative resection with limb salvage reconstruction. It is essential to differentiate pagetic sarcoma from metastatic carcinoma in pagetic bone and from a benign giant cell tumor.
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PMID:Surgical management of neoplastic complications of Paget's disease. 1051 Feb 13

An 8-year-old Hispanic boy with a hypoplastic left thumb, absent right thumb, and short stature experienced right leg pain and limp. A right tibial lesion was imaged and found to be osteosarcoma on biopsy. A 6-year-old Hispanic girl with congenitally absent thumbs experienced a pathologic fracture of her left femur after a minor sports injury. The radiologic abnormality seen was diagnosed as osteosarcoma on biopsy. Both patients continue to do well after intensive preoperative and postoperative high-dose chemotherapy and definitive reconstructive limb surgery. Osteosarcoma has been linked to several congenital syndromes in which absent thumbs are a feature. These two patients with absent thumbs and no definable syndrome experiencing osteosarcoma suggest that congenitally absent thumbs might be a risk factor for osteosarcoma in the absence of a syndrome.
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PMID:Osteosarcoma associated with absent thumbs: a report of two cases. 1069 26

Low-grade intraosseous osteosarcoma is an uncommon form of bone cancer. It is occasionally difficult to recognize as a malignant tumor and is commonly misdiagnosed as a benign fibrous lesion. We retrospectively studied the records of 8 patients with low-grade intraosseous osteosarcoma in the files of the Tohoku Musculoskeletal Tumor Society in Japan. All tumors arose in the lower limb. The most common symptom was pain, with a duration exceeding 2 years in 4 patients. Radiologic findings, including those at magnetic resonance imaging (MRI), suggested malignancy in 5 lesions, whereas 3 were diagnosed as benign. Two patients initially presented with pathological fracture. The initial pathological diagnosis was malignant in 5 patients and benign in 3. All eight tumors were grade 1 in Broders' classification. The tumor showed a permeative pattern in all eight cases, but this pattern could not be confirmed in the multiple tiny fragments obtained as biopsy specimens in 3 cases. The number of silver-staining nucleolar organizer regions (AgNOR) per nucleus and MIB-1-positive rate were significantly higher in low-grade intraosseous osteosarcoma than in fibrous dysplasia, offering an advantage in differential diagnosis. Three patients (38%) developed high-grade sarcoma at the site of local recurrence after multiple intralesional excisions, and one of them died of the disease. The other 5 patients had a good clinical course after surgery with a wide margin. These findings indicate that preoperative diagnosis with radiologic investigation, including magnetic resonance (MR) imaging and histologic examination of biopsy specimens is essential in preparation for surgery with a wide margin, assuring a good clinical course, and the results of AgNOR and immunohistochemical MIB-1 staining might be helpful in differentiating low-grade intraosseous osteosarcoma from fibrous dysplasia.
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PMID:Low-grade intraosseous osteosarcoma in northern Japan: advantage of AgNOR and MIB-1 staining in differential diagnosis. 1087 54

The local treatment of pathological fracture in patients with a primary osteosarcoma remains controversial. In this paper we report the oncological outcome of the treatment of pathological fractures in 18 patients suffering from this disease. There were ten male and eight female patients, and the average age at diagnosis was 17 years. All patients received adjuvant chemotherapy. Wide resections were performed in 17, but in one there was 'contamination' of the margins of the excision. Skeletal reconstruction was performed with a locally designed and manufactured custom 'mega' prosthesis. The average follow-up was 33 months (range: 12-93 months), and 14 patients were alive on completion of the study. Local recurrence appeared in two patients, while three developed pulmonary metastases.
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PMID:Limb salvage surgery for pathological fractures in osteosarcoma. 1179 72

In this study, the case has been examined of a 49-year old male who initially presented with a pathological fracture of the second metacarpal. This was first treated by curettage, iliac bone graft and internal fixation, without any complementary investigation being carried out, i.e., no preliminary biopsy and histological diagnosis were made. The results of this inadequate approach were poor: neither satisfactory fixation of the fracture nor control of the primary lesion were obtained. Moreover, the definitive diagnosis was only made four months later, when biopsy findings confirmed the presence of an osteosarcoma. After neoadjuvant chemotherapy, an en-bloc resection of the second metatarsal and the trapezoid bone was carried out. At ten months post-surgery, one and a half years after the original fracture, the hand was found to be disease-free and functioning satisfactory. However, nearly a year later the discovery of a large tumor mass at the site where the iliac bone graft was originally taken necessitated resection of the hemi-pelvis, with chemotherapy prior to resection and radiotherapy following surgery. Unfortunately, this salvage procedure did not limit the spread of the disease, and subsequent pulmonary and vertebral metastases were found, leading to the death of the patient three years after the initial fracture. This particular case underlines the fact that the basic rules for the management of malignant tumors should be taken into consideration from the onset, so that a catastrophic prognosis such as that described can be avoided.
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PMID:[Iatrogenic tumor metastasis to the pelvis after treatment for hand osteosarcoma. A case report]. 1114 1

Paget's disease of bone is a common condition characterized by bone pain, deformity, pathological fracture, and an increased incidence of osteosarcoma. Genetic factors play a role in the pathogenesis of Paget's disease but the molecular basis remains largely unknown. Susceptibility loci for Paget's disease of bone have been mapped to chromosome 6p21.3 (PDB1) and 18q21.1-q22 (PDB2) in different pedigrees. We have identified a large pedigree of over 250 individuals with 49 informative individuals affected with Paget's disease of bone; 31 of whom are available for genotypic analysis. The disease is inherited as an autosomal dominant trait in the pedigree with high penetrance by the sixth decade. Linkage analysis has been performed with markers at PDB1; these data show significant exclusion of linkage with log10 of the odds ratio (LOD) scores < -2 in this region. Linkage analysis of microsatellite markers from the PDB2 region has excluded linkage with this region, with a 30 cM exclusion region (LOD score < -2.0) centered on D18S42. These data confirm the genetic heterogeneity of Paget's disease of bone. Our hypothesis is that a novel susceptibility gene relevant to the pathogenesis of Paget's disease of bone lies elsewhere in the genome in the affected members of this pedigree and will be identified using a microsatellite genomewide scan followed by positional cloning.
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PMID:Familial Paget's disease of bone: nonlinkage to the PDB1 and PDB2 loci on chromosomes 6p and 18q in a large pedigree. 1114 87

Paget's disease of bone (PDB) is one of the most common bone disorders in the western world. PDB is characterized by focal areas of increased osteoclastic bone resorption and bone formation, which leads to the formation of poorly structured bone. These abnormalities of bone turnover and structure predispose affected individuals to various complications including bone pain, deformity, pathological fracture, and an increased risk of osteosarcoma. One of the main mechanisms of osteoclast formation and activation involves the receptor activator of nuclear factor -kappaB (RANK)/RANK ligand (RANKL)/osteoprotegerin (OPG) pathway, where binding of RANKL to RANK results in the differentiation of osteoclast precursors. OPG, on the other hand, acts as an inhibitor of osteoclastogenesis by serving as a decoy receptor for RANKL. Recently, mutations in the RANK gene have been shown to cause familial expansile osteolysis, a rare bone disorder showing great similarity to PDB. We performed mutation analysis in the RANK and OPG genes in 28 PDB patients to investigate whether mutations in these genes could be responsible for PDB. Our data suggest that RANK is not directly involved in PDB in our set of patients, as no mutations in the RANK coding region could be identified and allele frequencies of RANK polymorphisms did not differ in PDB patients as compared with the random population. Also, in the OPG gene, we could not detect PDB-causing mutations. However, of the several polymorphisms identified, one (400 + 4 C/T in intron 2), showed a statistically significant increased frequency for the C allele in PDB patients, suggesting that individuals harboring this allele may be more susceptible for developing PDB.
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PMID:Evaluation of the role of RANK and OPG genes in Paget's disease of bone. 1116 49

Since 1990, seven patients have been treated by the authors with the tibial turn-up procedure. They have ranged in age from 8 to 37 years; four were skeletally mature adults and three were children. All seven patients were faced with a clinical situation that required surgical removal of a long portion of their affected distal femur. Three of the adult patients initially were treated for osteosarcoma with long distal femoral resections and allograft arthrodesis of the knee. The allografts ultimately failed, two because of aseptic failure and one because of infection. One patient required distal femoral removal for chronic osteomyelitis and pathologic fracture. Of the three children who were treated, two had turn-ups after long resection of the distal femur for bone malignancy, and one had a secondary turn-up after failure of a long distal femoral endoprosthesis. The technique uses the normal ipsilateral tibia as a vascularized pedicle graft to restore femoral length. The ultimate result, even after very high above knee resection, is a long above knee amputation stump. The followup of the patients in the current study ranged from 2 to 8 years. All patients achieved healing and were able to wear above knee prostheses. The tibial turn-up is an effective procedure that results in a long functional above knee amputation stump even after very high above knee resections.
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PMID:Tibial turn-up for long distal femoral bone loss. 1121 Sep 58

Paget's disease of bone (PDB) is a common disorder characterized by focal areas of increased and disorganized osteoclastic bone resorption, leading to bone pain, deformity, pathological fracture, and an increased risk of osteosarcoma. Genetic factors play an important role in the pathogenesis of Paget's disease. In some families, the disease has been found to be linked to a susceptibility locus on chromosome 18q21-22, which also contains the gene responsible for familial expansile osteolysis (FEO)--a rare bone dysplasia with many similarities to Paget's disease. Insertion mutations of the TNFRSF11A gene encoding Receptor Activator of NF kappa B (RANK) have recently been found to be responsible for FEO and rare cases of early onset familial Paget's disease. Loss of heterozygosity (LOH) affecting the PDB/FEO critical region has also been described in osteosarcomas suggesting that TNFRSF11A might also be involved in the development of osteosarcoma. In order to investigate the possible role of TNFRSF11A in the pathogenesis of Paget's disease and osteosarcoma, we conducted mutation screening of the TNFRSF11A gene in patients with familial and sporadic Paget's disease as well as DNA extracted from Pagetic bone lesions, an osteosarcoma arising in Pagetic bone and six osteosarcoma cell lines. No specific abnormalities of the TNFRSF11A gene were identified in a Pagetic osteosarcoma, the osteosarcoma cell lines, DNA extracted from Pagetic bone lesions, or DNA extracted from peripheral blood in patients with familial or sporadic Paget's disease including several individuals with early onset Paget's disease. These data indicate that TNFRSF11A mutations contribute neither to the vast majority of cases of sporadic or familial PDB, nor to the development of osteosarcoma.
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PMID:Mutation screening of the TNFRSF11A gene encoding receptor activator of NF kappa B (RANK) in familial and sporadic Paget's disease of bone and osteosarcoma. 1135 98

The treatment of osteosarcoma requires a multidisciplinary approach involving the family physician, orthopedic oncologist, medical oncologist, radiologist and pathologist. Osteosarcoma is a mesenchymally derived, high-grade bone sarcoma. It is the third most common malignancy in children and adolescents. The most frequent sites of origin are the distal femur, proximal tibia and proximal humerus. Patients typically present with pain, swelling, localized enlargement of the extremity and, occasionally, pathologic fracture. Most patients present with localized disease. Radiographs commonly demonstrate a mixed sclerotic and lytic lesion arising in the metaphyseal region of the involved bone. Computed tomography and bone scanning are recommended to detect pulmonary and bone metastases, respectively. Before 1970, osteosarcomas were treated with amputation. Survival was poor: 80 percent of patients died from metastatic disease. With the development of induction and adjuvant chemotherapy protocols, advances in surgical techniques and improvements in radiologic staging studies, 90 to 95 percent of patients with osteosarcoma can now be treated with limb-sparing resection and reconstruction. Long-term survival and cure rates have increased to between 60 and 80 percent in patients with localized disease.
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PMID:Osteosarcoma: a multidisciplinary approach to diagnosis and treatment. 1192 89


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