Chromosomal rearrangements in chondromatous tumors

Abstract

Short-term cultures from 16 chondromatous tumors, 15 primary and one recurrent, were analyzed cytogenetically. Clonal chromosome aberrations were found in one of six benign tumors and in seven of ten malignant tumors. A chondroma had a complex translocation involving chromosomes X, 8, 12, and 13, as well as a deletion of the derivative chromosome 8. In the malignant tumors, monosomy 6 and 22 were observed in three tumors and monosomy 10, 11, 13, and 18 were observed in two tumors. In two of the three metastasizing tumors, del(5) (q13) and loss of chromosomes 6, 10, 11, 13, and 22 were common features. Structural aberrations of chromosome 1 were found in five tumors, of chromosomes 6, 12, and 15 in three tumors, and of chromosomes 4, 5, 9, and 20 in two tumors. We conclude that although considerable cytogenetic heterogeneity exists among chondromatous tumors, the karyotypic anomalies are still nonrandom.

Translocation der(13;21)(q10;q10) in Skeletal and Extraskeletal Mesenchymal Chondrosarcoma

“…It is not clear what kind of molecular impact this rearrangement of centromeric regions may have in mesenchymal chondrosarcoma. The der(13;21)(q10;q10) translocation has not been detected in the five mesenchymal chon- (4)(q12q21),add(7)(q36),-8,del (9)(p13),ϩdel(12)(q22), der(13;21)(q10;q10),add (18) drosarcomas that have been cytogenetically analyzed in prior studies (3)(4)(5)(6)(7).…”

“…The modal chromosomal number for two cases encompassed more than one ploidy level and ranged from 95 to 112 chromosomes in a mesenchymal chondrosarcoma arising in an 80-year-old man and 38 to 170 chromosomes in a strongly desmin immunoreactive mesenchymal chondrosarcoma arising in a 2-year-old boy (3,5). These findings are in contrast to near-diploid complements observed in the current three specimens as well as three previously reported cases (4,6,7).…”

“…Disruption or rearrangement of the 20q13 breakpoint was observed in the first case of the present series [add (20) (7). Extra copies of all or a portion of chromosome 12 have been detected in five mesenchymal chondrosarcoma specimens including the three of the current series (3,5). Aberrations of chromosome 12 have been described as common in conventional chondrosarcoma as well (21).…”

“…Cytogenetic analysis of the temporalis muscle lesion and the deltoid muscle lesion revealed similar abnormal complements: 45,XY,del(4)(q12q21),-8,del(9)(p13),ϩdel(12)(q22), der(13;21)(q10;q10), add (18) (p11.3),-20,ϩmar [2]/45,idem,add(7)(q36) [3]/90,idemx2 [5]/90,idemx2,add(7)(q36)x2 [1], and 45,XY,del(4)(q12q21),-8,del(9)(p13),ϩdel(12)(q22), der(13;21)(q10;q10),add (18) (p11.3),-20,ϩmar [3]/ 45,idem,add(7)(q36) [1]/90,idemx2 [4], respectively (Fig. 3).…”

“…Cytogenetic studies of mesenchymal chondrosarcoma are limited (3)(4)(5)(6)(7). In this study, three mesenchymal chondrosarcoma specimens from two patients subjected to cytogenetic and molecular cytogenetic analyses revealed a 13;21 Robertsonian translocation in all three samples as well as loss of chromosomes 8 and 20 material and gain of chromosome 12 material.…”