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Results for “EXOSTOSES, MULTIPLE”

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At least 505 records · Page 28Linked to original sources
PubMed1995

Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.

Hereditary multiple exostosis (EXT) is an autosomal dominant disorder characterized by bony exostoses at the ends of the long bones. Linkage studies have recently suggested that there are three chromosomal locations for EXT genes, 8q24.1 (EXT1), the pericentric region of 11 (EXT2), and 19p (EXT3). As part of a larger study to determine the frequencies of the three EXT types in the United States, we have ascertained a large multigenerational family with EXT and one family member with a chondrosarcoma. This family demonstrated linkage of the disease to chromosome 11 markers. The constitutional and tumor DNAs from the affected family member were compared using short-tandem-repeat markers from chromosomes 8, 11, and 19. Loss of heterozygosity (LOH) in the tumor was observed for chromosome 8 and 11 markers, but chromosome 19 markers were intact. An apparent deletion of the marker D11S903 was observed in constitutional DNA from all affected individuals and in the tumor sample. These results indicate that the EXT2 gene maps to the region containing marker D11S903, which is flanked by markers D11S1355 and D11S1361. Additional constitutional and chondrosarcoma DNA pairs from six unrelated individuals, two of whom had EXT, were similarly analyzed. One tumor from an individual with EXT demonstrated LOH for chromosome 8 markers, and a person with a sporadic chondrosarcoma was found to have tumor-specific LOH and a homozygous deletion of chromosome 11 markers. These findings suggest that EXT genes may be tumor-suppressor genes and that the initiation of tumor development may follow a multistep model.

Chondrosarcoma↗
PubMed2006

Osteochondroma causing diaphragmatic rupture and bowel obstruction in a 14-year-old boy.

Exostosis, also known as osteochondroma, results from a disorder of the growth-plate where bone grows away from the growth axis and forms an irregular projection. This abnormality most commonly occurs around the femur, scapula, humerus, and ribs. Although hemothorax and diaphragmatic rupture are known complications of exostosis growth, we present herein the first known report of an inward-facing exostosis in a 14-year-old boy with hereditary multiple exostosis causing diaphragmatic rupture and a bowel obstruction requiring operation. Most exostoses are asymptomatic and as such require no further treatment. However, when they are threatening to cause mass effects (such as frictional bursitis, local entrapment of vessels, and tendons or nerves) or symptomatic, surgical resection is the appropriate treatment.

Adolescent↗
PubMed1954

[Exostosis].

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Bone Neoplasms↗