Aneurysmal bone cyst with chromosomal changes involving 7q and 16p.
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.
Baruffi
M R
MR
Department of Genetics, School of Medicine of Ribeirão Preto, University of São Paulo, Av. Bandeirantes, 3900, 14049-900 Ribeirão Preto, São Paolo, Brazil.
Neto
J B
JB
Barbieri
C H
CH
Casartelli
C
C
D000293:Adolescent; D017824:Bone Cysts, Aneurysmal / Q000175:diagnosis* / Q000235:genetics*; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D020732:Cytogenetic Analysis; D006801:Humans; D006811:Humerus / Q000000981:diagnostic imaging / Q000473:pathology; D007621:Karyotyping; D008297:Male; D008677:Metaphase; D011859:Radiography