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

Abstract

Desmoid tumor, desmoplastic fibroma, periosteal desmoid tumor, osteofibrous dysplasia and fibrous dysplasia are benign mesenchymal lesions arising in soft tissue or bone. Desmoid tumors, also known as aggressive fibromatosis or fibromatosis of soft tissue, may occur in extraabdominal, abdominal, or intra-abdominal locations. Desmoplastic fibroma and periosteal desmoid tumor, identical histologically, differ only by location. Desmoplastic fibroma and periosteal desmoid tumor are considered to represent the bone counterparts of desmoid tumors of soft tissue. A tumor-like proliferation of fibroosseous tissue is characteristic of osteofibrous dysplasia and fibrous dysplasia. The former is distinguished histologically by osteoblastic rimming of the bone trabeculae. 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. Materials and Methods Cytogenetic AnalysisTwenty-two specimens (to include three desmoplastic fibromas, two periosteal desmoid tumors, nine desmoid tumors, four osteofibrous dysplasias, and four fibrous dysplasias) from 19 different patients were examined by traditional cytogenetic and molecular cytogenetic methodologies. A 0.5-to 1.0-cm 3 sample of each specimen was received for cytogenetic analysis. Standard culture and harvesting procedures were used that have been described previously. 4 Briefly, the tissues were disaggregated mechanically and enzymatically and then cultured in RPMI 1640 medium supplemented with 20% fetal bovine serum and 1% penicillin/streptomycin-L-glutamine (Irvine Scientific, Santa Ana, CA) for 3 to 5 days. Two to four hours before harvest, cells were exposed to Colcemid (0.02 g/ml). After hypotonic treatment (0.074 mol/L KCl for 30 minutes for flasks and 0.8% sodium citrate for 25 minutes for coverslips), the preparations were fixed three times with methanol/glacial acetic acid (3:1). Metaphase cells were banded with Giemsa trypsin. The karyotypes were expressed according to the International System for Human Cytogenetic Nomenclature 1995. 18

Desmoplastic Fibroma of the Mandible: A Series of Three Cases and Review of Literature

“…Mutations in both b-catenin and APC (adenomatous polyposis coli) genes have been implicated in the pathogenesis of desmoid-type fibromatosis [6]. Fluoroscent in situ hybridization (FISH) analyses have demonstrated trisomy 8 and 20 as nonrandom aberrations in benign fibrous conditions of both bone and soft tissue [7]. Moreover, DFs of gnathic bones have been diagnosed in patients with the hamartoneoplastic syndrome-tuberous sclerosis, in which they are believed to represent intraoral manifestations of this multisystem genetic disorder [8,9].…”

Extra Copies of Chromosomes 7, 8, 12, 19, and 21 are Recurrent in Adamantinoma

“…Unfortunately, because of their rarity, cytogenetic reports concerning these tumors are few. [2][3][4][5][6][7] The karyotypic findings of only five cases of classic adamantinoma and two cases of differentiated adamantinoma have been described, [2][3][4] Table 1. An examination of the four current cases and a review of those previously reported reveal that extra copies of chromosomes 7,8,12,19, and/or 21 have been seen in all but one case of classic adamantinoma and one case of differentiated adamantinoma.…”

“…The following primary abnormal clone and subclone were detected in Case 2: 54,XY,ϩ5,ϩ7,ϩ8,ϩ12,ϩ12,ϩ14, ϩ19, ϩ21 [6]/53, XY, ϩ4, ϩ5, ϩ7, ϩ8, ϩ12, ϩ14, Ϫ16, ϩ17, Ϫ18,ϩ21,ϩmar [2]. A representative karyotype of the primary clone is presented in Figure 4.…”

“…Hybridization was performed as previously described. 6 The number of hybridization signals for each specimen was assessed in 200 interphase nuclei with strong and well-delineated signals by two different individuals. A specimen was interpreted as aneuploid for chromosomes 7,8,12, and/or 19 if three or more clearly separate signals for each respective probe could be detected in Ͼ25% of the cells evaluated (more than two standard deviations above the average false positive rate).…”

“…[2][3][4][5][6][7] In this study, the cytogenetic and molecular cytogenetic findings of four cases of adamantinoma and a review of the literature are presented.…”