Osteosarcoma in blood relatives.
Osteosarcoma is an uncommon tumor. Family occurrence of osteosarcoma is even rarer. Four cases of osteosarcoma in two siblings and in a father and son treated at our Institute with surgery and chemotherapy are reported. These patients had no other tumors in their family history, and had negative p53 mutations in exons 5-9 by SSCP analysis. RB, CDK4, MDM2, c-myc, c-fos, and p53 gene expression, which are the major genes involved in osteosarcoma susceptibility, were studied. Our results revealed an inactive form of p53 sporadically seen in the samples, a total loss of Rb protein expression, an increased expression of Cdk4, MDM2, c-fos, and c-myc proteins which literature currently reports being the principal alterations found in osteosarcoma. These findings confirm that specific genetic alterations occur in osteosarcoma pathogenesis.
Longhi
A
A
Service of Chemotherapy, Istituti Ortopedici Rizzoli, 40136 Bologna, Italy. alessandra.longhi@ior.it
Benassi
M S
MS
Molendini
L
L
Macchiagodena
M
M
Picci
P
P
Bacci
G
G
D000293:Adolescent; D000328:Adult; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D001859:Bone Neoplasms / Q000150:complications / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics*; D051358:Cyclin-Dependent Kinase 4; D018844:Cyclin-Dependent Kinases / Q000032:analysis / Q000235:genetics; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005266:Femoral Neoplasms / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D016161:Genes, Retinoblastoma; D016762:Genes, fos; D016259:Genes, myc; D016158:Genes, p53; D006801:Humans; D006811:Humerus / Q000000981:diagnostic imaging / Q000473:pathology; D007558:Italy / Q000453:epidemiology; D008297:Male; D009363:Neoplasm Proteins / Q000032:analysis / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000453:epidemiology / Q000235:genetics*; D009687:Nuclear Proteins; D010014:Osteolysis / Q000000981:diagnostic imaging / Q000209:etiology; D012516:Osteosarcoma / Q000150:complications / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics*; D010026:Osteosclerosis / Q000000981:diagnostic imaging / Q000209:etiology; D018807:Polymorphism, Single-Stranded Conformational; D011518:Proto-Oncogene Proteins / Q000032:analysis / Q000235:genetics; D016760:Proto-Oncogene Proteins c-fos / Q000032:analysis; D051736:Proto-Oncogene Proteins c-mdm2; D016271:Proto-Oncogene Proteins c-myc / Q000032:analysis; D011859:Radiography; D016160:Retinoblastoma Protein / Q000032:analysis; D013977:Tibia / Q000000981:diagnostic imaging / Q000473:pathology
D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins; D016760:Proto-Oncogene Proteins c-fos; D016271:Proto-Oncogene Proteins c-myc; D016160:Retinoblastoma Protein; C497206:MDM2 protein, human; D051736:Proto-Oncogene Proteins c-mdm2; C495900:CDK4 protein, human; D051358:Cyclin-Dependent Kinase 4; D018844:Cyclin-Dependent Kinases