RESUMO
Few studies describe karyotypic abnormalities in simple bone cysts. We report the results of cytogenetic analysis of a case of simple bone cyst of the distal humerus in a patient with hypophosphatemic rickets with a t(7;12)(q21;q24.3) as the sole abnormality. To our knowledge, this is the third report of a cytogenetically characterized tumor of this type.
Assuntos
Cistos Ósseos/genética , Cromossomos Humanos Par 12 , Cromossomos Humanos Par 7 , Raquitismo Hipofosfatêmico Familiar/genética , Úmero/patologia , Translocação Genética , Adolescente , Criança , Bandeamento Cromossômico , Citogenética , Feminino , Humanos , MasculinoRESUMO
Benign cartilaginous tumors represent a spectrum of neoplastic processes with variable clinical and pathologic presentations. These tumors are histologically characterized by the presence of chondrocytes surrounded by a cartilaginous matrix. Few studies describe karyotypic abnormalities in these benign lesions. We report a series of 14 chondromas from a single institution. Conventional cytogenetics was performed on short term cultures from all cases. Clonal chromosome aberrations were found in nine tumors. One soft tissue chondroma contained three clones with t(6;12)(q12;p11.2), t(3;7)(q13;p12), and der(2)t(2;18)(p11.2;q11.2). Three periosteal chondromas displayed random structural aberrations of chromosomes 2, 3, 6, 7, and 11 and loss of chromosome 13. Among the enchondromas, three tumors displayed chromosome losses, one contained a complex translocation involving chromosomes 12, 15, and 21 as well as an inv(2)(p21q31),t(12;15;21)(q13;q14;q22) and a separate enchondroma showed a translocation involving chromosomes 12 and 22. Our data suggest that considerable cytogenetic heterogeneity exists among benign chondromatous tumors.
