Clonal structural chromosome aberrations in fibrous dysplasia

Abstract

Cytogenetic analysis of short-term cultures from a case of monostotic fibrous dysplasia in a 14-year-old girl revealed multiple clonal structural rearrangements with evidence of clonal evolution. The karyotype was 46,XX,del(3)(q27),add(10)(q22),add(12)(p13)/46,idem,t(3;8)(p21;q13 ),add(10) (q26),der(15)del(15)del(15)(q15q22)ins(15;?) q15;?)/46,id em,-X,+2,t(3;8),add(10),der(15). The finding of clonal structural aberrations suggests that fibrous dysplasia is a neoplastic lesion which develops as the result of somatic mutations.

Establishment and characterization of a cell line from a malignant fibrous histiocytoma of bone developing in a patient with multiple fibrous dysplasia

“…It has long been considered a developmental disorder. However, recent reports showed clonal growth of cells with chromosomal aberrations in FD, suggesting a possible neoplastic character (Bridge et al 1989;Tarkkanen et al 1993;Mertens et al 1994;Dal Cin et al 2000). The real nature of FD, especially regarding genetic and/or epigenetic changes remains to be elucidated.…”

Trisomies 8 and 20 Characterize a Subgroup of Benign Fibrous Lesions Arising in Both Soft Tissue and Bone

“…All previous cytogenetic reports of fibrous dysplasia are of monostotic lesions. 1,[11][12][13] Notably, trisomy 8 was also observed cytogenetically in one of these previously described fibrous dysplasias. 11 Desmoid tumor, an infiltrative and frequently locally recurrent lesion, may occur sporadically or as a feature of Gardner syndrome (an autosomal dominant trait that is also characterized by intestinal polyposis, osteomata, and cutaneous cysts).…”

“…Additionally, several of the chromosomal breakpoints aberrant in one case of fibrous dysplasia (case 16) are similar to those reported in other cases. 1,[11][12][13] Specifically, loss of 2q (particularly 2q31-35) and structural rearrangements of 11p15 and 12p13 have been observed in other fibrous dysplasias demonstrating clonal structural abnormalities. Interestingly, one of the fibrous dysplasias exhibiting trisomy 8 in the current study (case 19) was from a patient with polyostotic fibrous dysplasia.…”

“…Loss of 5q21-22 (gene location for familial adenomatous polyposis and Gardner syndrome) 20 -22 was observed in two desmoid tumors (one patient with and one without Gardner syndrome; cases 5 and 11, respectively). Loss of 4p and rearrange- 1,[11][12][13][14][15] There are no cytogenetic descriptions of periosteal desmoid tumor, and there are no mo- lecular cytogenetic reports of any of these benign fibrous lesions of bone regarding chromosomes 8 and 20 copy numbers.…”

“…Cytogenetic and molecular cytogenetic analyses of desmoid tumors are few and are particularly sparse or are nonexistent for desmoplastic fibroma, periosteal desmoid tumor, osteofibrous dysplasia, and fibrous dysplasia. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] To determine the frequency of trisomy 8 and trisomy 20 in additional desmoid tumor cases and to examine their presence in related fibrous lesions of bone, both standard karyotypic analysis and molecular cytogenetic analysis were performed on 22 representative specimens. …”