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)

We report three lipomas with rearrangements of chromosome 13. The karyotype of the tumors studied were 45,XX,-8,+der(8)t(8;13)(q22;q12),del(10)(p12),-13; 46,XY,del(13)(q12q22), and 46,XY,t(11;12)(q23;q13),del(13)(q12q22), respectively, revealing common involvement of band 13q12 in the rearrangement. Three other lipomas with aberrations of bands 13q12-q13 have been reported, suggesting that such tumors with abnormalities of chromosome 13 could represent a subgroup of lipoma in addition to those already reported with abnormalities of chromosomes 12q and 6p. The rearrangements of #13 in all these cases also involved loss of the band 13q14 to which the antioncogene associated with retinoblastoma and osteosarcoma is localized. Detailed clinical, histopathologic, and molecular studies should help to further characterize the various cytogenetically defined subgroups of lipoma.
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PMID:Cytogenetic subtype involving chromosome 13 in lipoma. Report of three cases. 275 78

Investigations of long term survival and evidence concerning cure among children surviving at least three years after most of the more common childhood cancers treated in Britain between 1960 and 1981 are reported. The results indicate striking improvements in survival beyond three years for many childhood tumours over this period. For most childhood tumours considered over 80% of those who had survived at least three years were alive 10 years later. Comparison of mortality observed among survivors with that expected for the general population showed evidence of cure among those who had survived at least three years after non-Hodgkin lymphomas and non-genetic retinoblastoma. Survivors of other tumours, with sufficient cases surviving beyond 10 years to examine excess mortality, rarely experienced an excess that exceeded one extra death per 100 survivors per year. Children who had survived at least 10 years after other embryonal tumours, soft tissue sarcomas, or osteosarcoma never experienced an excess mortality exceeding one extra death per 200 survivors per year.
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PMID:Long term survival and cure after childhood cancer. 277 14

Survivors of hereditary retinoblastoma are at increased risk for the development of second primary tumors, most commonly osteosarcoma. Recent molecular genetic data demonstrate that a pleiotrophic effect of the retinoblastoma gene may be responsible for the development of these sarcomas. This report describes the incidence of second nonocular malignancies among 53 infants seen at Stanford University Medical Center who have been followed a median of 11.7 years. Of these, 42 initially had bilateral disease and eleven had unilateral disease. Of 53 infants, 50 received irradiation either as part of the initial therapy or as treatment for recurrent disease. The actuarial survival for the entire group is 67% at 30 year follow-up with a median survival of 79% at 11.7 years. Eight patients developed eleven second primary tumors. All occurred in the group having hereditary retinoblastoma. Eight were within the previously irradiated field and three were at distant sites. The second tumors included seven osteosarcomas, one angiosarcoma, one rhabdomyosarcoma, one malignant fibrous histiocytoma, and one unclassifiable round blue cell tumor. The actuarial incidence of the development of a second primary malignancy was 6% at 10 years, 19% at 20 years, and 38% at 30 years. The latent period from treatment of retinoblastoma to the diagnosis of malignancy ranged from 5.2 years to 36.2 years (median 16 years). An aggressive approach with combined modality therapy including radical resection, re-irradiation and/or chemotherapy was used to treat these second primary tumors in five of eight patients. In four of the five, there was no evidence of disease at 22-72 months following treatment. In the three patients who did not receive aggressive combined treatment, there were no survivors. These data confirm the previously reported risk of developing a second primary tumor among survivors with hereditary retinoblastoma. Careful long-term follow-up for this genetically susceptible group is essential for early detection and implementation of curative therapy.
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PMID:Aggressive management of second primary tumors in survivors of hereditary retinoblastoma. 277 44

Among a cohort of 10,106 three-year survivors of childhood cancer, 90 second primary tumours (SPTs) were observed. Within 25 years of 3-year survival about 4% developed a SPT, about 6-fold expected, the relative risk not varying much with increasing follow-up. Following genetic retinoblastoma we observed 30-fold the expected number of SPTs, and over 400-fold the expected number of osteosarcomas. The risk of SPT in the absence of radiotherapy and chemotherapy (inherent risk) following genetic retinoblastoma was 13-fold expected and over 200-fold the expected number of osteosarcomas were observed. There was evidence that both radiotherapy and cyclophosphamide were associated with an increased risk of SPT. After all first primary tumours (FPTs) excluding retinoblastoma we observed almost 5-fold the expected number of SPTs. The inherent risk was 4-fold expected, the relative risks associated with radiotherapy but no chemotherapy, and both radiotherapy and chemotherapy were 6- and 9-fold expected respectively. There were about 20-fold the number of malignant bone tumours expected, most were osteosarcoma; also 7-fold the number of central nervous system tumours expected. There were 8 basal cell carcinomas and it seems likely that radiotherapy was involved in the development of some of these. Radiotherapy appears to have been involved in the development of many of the SPTs observed following all FPTs excluding retinoblastoma, particularly after CNS tumours, Wilms' tumour and Hodgkin's disease. Currently there is insufficient follow-up to examine the risk following chemotherapy. After acute leukaemia there was 20-fold the expected number of central nervous system tumours, though this is based on only 3 cases; whether therapy is directly involved in their development is uncertain. The risks we report are rarely greater than those reported in previous large-scale studies; in most instances they are substantially less. It is very unlikely that many SPTs were missed with our follow-up system so alternative explanations require further investigation; in particular it is possible the lower risks in our data compared to series treated in the United States may be explained, in part, by less combination therapy and lower doses of radiotherapy.
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PMID:Incidence of second primary tumours among childhood cancer survivors. 282 73

Fifty-nine patients with osteogenic sarcomas arising in bones following exposure to x rays and 20 patients with postradiation malignant fibrous histiocytomas of bone arising as a direct consequence of irradiation were studied. These represent 5.5% of all osteogenic sarcomas and 4.9% of all malignant fibrous histiocytomas of bones. The sarcomas may affect any skeletal site, but most commonly they arose in bones of the pelvic and shoulder girdles or the distal end of the femur. Grounds for irradiation were either nonosseous conditions or preexistent skeletal lesions. Reasons for incidental osseous irradiation included Hodgkin's disease, carcinoma of cervix, breast or lung; bilateral retinoblastoma and others, and giant cell tumor predominated among the irradiated skeletal lesions. The mean and the median radiation doses were 6,040 cGy (rad) and 5,700 cGy (rad), respectively. The period of latency between irradiation and the appearance of the bone sarcoma ranged from 3.5 to 47 y with a mean of 16.5 and median of 14.5, respectively. The cumulative disease-free survival rate for malignant fibrous histiocytoma patients at 3 y was 58%. The cumulative disease-free survival rate at 5 y for patients with osteogenic sarcoma was 17%, with a median survival estimate of 1 y. Although all patients with malignant fibrous histiocytoma who received their radiation therapy for a preexistent bone lesion survived, only 27% of the patients whose bone was normal at the time of irradiation are alive and well at the 3-y mark.
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PMID:Postradiation sarcomas of bone. 284 96

In order to assess the involvement of the 13q14 region in the development of osteosarcoma, both osteosarcoma tumor cells and normal tissue from a retinoblastoma patient previously used in restriction fragment length polymorphism studies, and sarcoma cells and normal fibroblasts from other tumor patients, have been investigated with respect to esterase D (E.C. 3.1.1.1) expression and chromosome pattern. In spite of an increased number of apparently normal chromosomes #13, a 50% reduction in esterase D activity in osteosarcoma cells from the retinoblastoma patient was observed. This suggests that loss of the RB1 gene or an OSRC gene closely linked to the ESD and RB1 gene loci is involved in the development of the osteosarcoma tumor. No reduction in esterase D expression was seen in four other sarcoma cell lines.
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PMID:Chromosome 13 instability and esterase D expression in an osteosarcoma cell line. 287 16

The retinoblastoma (Rb) gene is the prototype for a class of recessive human cancer genes in which loss of activity of both normal alleles is thought to be associated with tumorigenesis. Sixteen of 40 retinoblastomas examined with a complementary DNA probe shown to be the Rb gene had identifiable structural changes of the Rb gene including in some cases homozygous internal deletions with corresponding truncated transcripts. An osteosarcoma also had a homozygous internal deletion with a truncated transcript. In addition, possible hot spots for deletion were identified within the Rb genomic locus. Among those tumors with no identifiable structural changes there was either absence of an Rb transcript or abnormal expression of the Rb transcript. Comparison of the structural changes in the tumor cells and fibroblasts of certain patients provided support for Knudson's two-hit hypothesis for the development of retinoblastoma at the molecular level. The ability to detect germline structural deletions in fibroblasts from some patients with bilateral retinoblastoma also indicates that the isolated gene is useful for diagnostic purposes.
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PMID:Structural evidence for the authenticity of the human retinoblastoma gene. 288 16

A cell panel from six different familial cancers, where both normal and tumor tissues were available, was examined for genotypic changes with polymorphic DNA probes. Seventeen probes were tested, representing chromosomes #1, #2, #5, #6, #13, #14, #17, and #19. One probe, p7F12 (D13S1, at 13q12-q14) revealed loss of heterozygosity in two tumors: an osteosarcoma from a patient with retinoblastoma that had been included as a control, and one polyposis tumor that had been established in nude mice from a duodenal carcinoma biopsy. Loss of heterozygosity was observed in the first passage of the mouse tumor. Chromosome analysis in later passages revealed loss of one whole chromosome #13 as the single consistent karyotypic change.
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PMID:Loss of one chromosome #13 during development of a polyposis tumor. 288 78

Using molecular cloning, we earlier isolated the "retinoblastoma gene"; mutations or deletions at this locus are associated with the hereditary predisposition to some human cancers, especially retinoblastoma and osteosarcoma. To develop diagnostic tests for such a predisposition, we identified restriction-fragment-length polymorphisms (RFLPs) within the retinoblastoma gene and tested their usefulness in predicting the risk of cancer in 20 families with members who had hereditary retinoblastoma. We were able to make predictions in 19 of the 20 kindreds. In 18 kindreds, we demonstrated a consistent association of marker RFLPs with the mutation predisposing to retinoblastoma. In the 19th kindred, there may be a lack of cosegregation of the DNA polymorphisms within the gene and the site of the mutation predisposing to retinoblastoma. However, there is uncertainty about the clinical diagnosis of the retinal lesion in a key member of this kindred; if the lesion is not a retinoblastoma, there is no discrepancy between the DNA polymorphisms and the retinoblastoma trait. We conclude that it is feasible and clinically useful to use these DNA polymorphisms to determine the risk of cancer.
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PMID:Prediction of the risk of hereditary retinoblastoma, using DNA polymorphisms within the retinoblastoma gene. 289 31

Recent evidence indicates that the mutation of retinoblastoma susceptibility (RB) gene is also involved in the development of osteosarcoma. We studied 30 cases of osteosarcoma for the structural anomalies of the RB gene by Southern hybridization analysis with cDNA probes of the RB gene. Thirteen cases (43%) showed structural anomalies of the RB gene. They included the total or partial deletion, or rearrangement of the RB gene; seven with homozygous deletions and six with hemizygous deletions or rearrangements. By the use of restriction fragment length polymorphism fragments as chromosome markers, those seven tumors having homozygous deletions and four of six tumors having hemizygous anomalies showed the loss of heterozygosity at other loci on chromosome 13. Among those tumors with no apparent structural changes of the RB gene, seven cases showed the loss of heterozygosity on chromosome 13, and altogether the loss of heterozygosity by either homozygosity or hemizygosity was found in 18 (64%) of 28 informative cases. The loss of heterozygosity was also found for nine of 10 other chromosomes, of which chromosome 17 showed the highest frequency (77%). The tumors with loss of chromosome 13 alleles also showed additional losses of alleles on other chromosomes, while tumors retaining heterozygosity of chromosome 13 also retained heterozygosity at the informative loci on other chromosomes. Southern hybridization and karyotype analysis in some selected cases suggest that the concerted loss of heterozygosity at multiple loci may be a consequence of the polyploidization-segregation process.
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PMID:Chromosomal reorganization for the expression of recessive mutation of retinoblastoma susceptibility gene in the development of osteosarcoma. 289 86


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