ABSTRACT
An aneurysmal bone cyst was submitted to cytogenetic analysis. The modal chromosome number was 46. The composite karyotype was 40 approximately 48,XY,-Y[4],-6[3],del(7)(q32)[3],-9[3],+12[2],+13[2], inv(16)(p13.1q24)[4],-17[3],-19[4],-20[3][cp13]. The clonal structural changes detected were del(7)(q32) and inv(16)(p13.1q24). The breakpoints involved affected areas to which important genes for cell cycle regulation have been mapped. There is only one report in the literature of three aneurysmal bone cysts presenting clonal karyotypic alterations. The cytogenetic study of the aneurysmal bone cyst reported here showed different results when compared to those previously described in the literature.
Subject(s)
Bone Cysts, Aneurysmal/diagnosis , Bone Cysts, Aneurysmal/genetics , Chromosome Aberrations/genetics , Chromosomes, Human, Pair 16/genetics , Chromosomes, Human, Pair 7/genetics , Adolescent , Chromosome Aberrations/diagnosis , Chromosome Disorders , Cytogenetic Analysis , Humans , Humerus/diagnostic imaging , Humerus/pathology , Karyotyping , Male , Metaphase , RadiographyABSTRACT
Cytogenetic analysis was performed in two osteoid osteomas. In both, the modal chromosome number was 46. One of the cases presented a del(22)(q13.1) as the sole clonal chromosome alteration. The other had clonal monosomies of chromosomes 3, 6, 9, 17, 19, and 21, as well as a +del(22)(q13.1) was detected as a non-clonal chromosome alteration. There is only one osteoid osteoma reported so far showing clonal karyotypic alterations. The cytogenetic behavior of osteoid osteomas described here was different from that of the osteoid osteoma of the literature. Numerical alterations of chromosomes 3, 6, 9, 17, 19, 21 and 22 have been described in several neoplasias including bone tumors. The breakpoint of chromosome 22 involves a region where important genes for the regulation of the cell cycle have been mapped.
