Primary Aneurysmal Bone Cysts: 16q22 and/or 17p13 Chromosome Abnormalities

Wyatt-Ashmead, Josephine; Bao, Liming; Eilert, Robert E.; Gibbs, Parker; Glancy, Gerard L.; McGavran, Loris

doi:10.1007/s10024-001-0035-0

Cited by 31 publications

(12 citation statements)

References 3 publications

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“…Previous cytogenetic studies of aneurysmal bone cyst have revealed 17 cases with clonal chromosomal abnormalities (Table 2), 3,[6][7][8][9][10][11][12][13] Six of these 17 (35%) cases showed a t(16;17)(q22;p13), while seven additional cases demonstrated rearrangement of 17p11-13 with a chromosome partner other than 16q22. Conversely, 16q22 abnormalities exclusive of 17p11-13 abnormalities have been detected in two aneurysmal bone cysts.…”

Section: Discussionmentioning

confidence: 99%

“…Overall, the following chromosomal bands have been detected as 17p11-13 rearrangement partners in aneurysmal bone cyst: 1p34.1-34.3, 2p23, 6p21, 9p22, 14q11.2, 16q22, and 17q12. 3,[6][7][8][9][10][11][12][13] Observation of repeated involvement of 17p11-13 suggests that a putative oncogene important in the pathogenesis of aneurysmal bone cyst lies within this chromosomal region and the manner of its activation is diverse based on the variable 17p chromosomal rearrangement partners. 19 In addition to the apparent nonrandom partnership of 16q22 and 17p11-13, the current study reveals two more breakpoints that appear to be recurrently rearranged with 17p13.…”

Section: Discussionmentioning

confidence: 99%

“…3,[6][7][8][9][10][11][12][13] Clonal abnormalities of the short arm of chromosome 17 appear to be recurrent and some authors have postulated that alterations of a 'yet to be determined' gene on 17p13 may play an important role in the development of aneurysmal bone cyst. 3,[7][8][9][10]12,13 In this study, the cytogenetic findings of 43 aneurysmal bone cyst samples from 38 patients are reported; several exhibiting novel rearrangements. Moreover, molecular cytogenetic data collected from efforts to further localize the key breakpoint on 17p are described.…”

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confidence: 99%

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Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization

et al. 2004

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Aneurysmal bone cyst is a benign, cystic lesion of bone composed of blood-filled spaces separated by fibrous septa. Relatively few cases of aneurysmal bone cyst have been cytogenetically characterized, yet abnormalities of the short arm of chromosome 17 appear to be recurrent. In this study, conventional cytogenetic analysis of 43 aneurysmal bone cyst specimens from 38 patients over a 12-year period revealed clonal chromosomal abnormalities in 12 specimens. Karyotypic anomalies of 17p, including a complex translocation and inversion, were identified in eight of these 12 specimens. In an effort to further define the aberrant 17p breakpoint, fluorescence in situ hybridization (FISH) analyses were performed using a series of probe combinations spanning a 5.1 Mb region between the TP53 (17p13.1) and Miller-Dieker lissencephaly syndrome (17p13.3) gene loci. These studies revealed the critical breakpoint locus at 17p13.2, flanked proximally by an RP11-46I8, RP11-333E1, and RP11-457I18 bacterial artificial chromosome (BAC) probe cocktail and distally by an RP11-198F11 and RP11-115H24 BAC and RP5-1050D4 P1 artificial chromosome (PAC) probe cocktail. Overall, abnormalities of the 17p13.2 locus were identified by metaphase and/or interphase cell FISH analysis in 22 of 35 (63%) aneurysmal bone cyst specimens examined including 26 karyotypically normal specimens. These cytogenetic and molecular cytogenetic findings expand our knowledge of chromosomal alterations in aneurysmal bone cyst, further localize the critically involved 17p breakpoint, and provide an alternative approach (ie FISH) for detecting 17p abnormalities in nondividing cells of aneurysmal bone cysts. The latter could potentially be utilized as an adjunct in diagnostically challenging cases.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization

et al. 2004

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“…The clonal nature of ABC is evidenced by various rearrangements of chromosome band 17p13, with the most frequent of such rearrangement being translocation t(16;17)(q22;p13) (Panoutsakopoulos et al, 1999;Dal Cin et al, 2000;Winnepenninckx et al, 2001;Wyatt-Ashmead et al, 2001;Althof et al, 2004;Oliveira et al, 2004a). Recently, we demonstrated that the t(16;17) creates a novel fusion oncogene in which the promoter of CDH11 (Cadherin 11, or osteoblast cadherin) is juxtaposed to the entire coding sequence of USP6 (ubiquitin-specific protease 6).…”

Section: Introductionmentioning

confidence: 99%

Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes

et al. 2005

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Aneurysmal bone cysts (ABC) are locally aggressive bone tumors that often feature chromosome 17p13 rearrangements. One of the ABC 17p13 rearrangementst(16;17)(q22;p13) -was recently shown to create a CDH11-USP6 fusion in which the USP6/TRE17 oncogene is overexpressed through juxtaposition with the CDH11 promoter. Herein, we characterize four different ABC translocations involving 17p13, and we show that each is associated with a novel USP6 fusion oncogene. Specifically, we demonstrate that t(1;17), t(3;17), t(9;17), and t(17;17) result in USP6 fusions with TRAP150 (thyroid receptor-associated protein 150), ZNF9 (ZiNc Finger 9), Osteomodulin, and COL1A1 (Collagen 1A1), respectively. The oncogenic mechanism in these fusion genes is akin to CDH11-USP6, with the USP6 coding sequences juxtaposed to the promoter regions in each of the four novel translocation partners. The novel fusion partners appear well suited to drive USP6 transcription in the bone/ mesenchymal context: osteomodulin is expressed strongly in osteoblastic lineages, and the COL1A1 promoter has an oncogenic role in the mesenchymal cancer dermatofibrosarcoma protuberans. In summary, these studies show that USP6 oncogenic activation results from heterogeneous genomic mechanisms involving USP6 transcriptional upregulation by juxtaposition with ectopic promoters.

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“…This rearrangement is characteristic of aneurysmal bone cyst. However, there are many variations on this theme, and at least five different chromosomes can serve as translocation partners with chromosome 17 (Dal Cin et al, 2000;Herens et al, 2001;Wyatt-Ashmead et al, 2001).…”

Section: Telangiectatic Osteosarcomamentioning

confidence: 99%