Chromosomal abnormalities in giant cell tumors of bone

Bardi, Georgia; Pandis, Nikos; Mandahl, Nils; Heim, Sverre; Sfikas, Kostas; Willén, Helena; Panagiotopoulos, George; Rydholm, Anders; Mitelman, Felix

doi:10.1016/0165-4608(91)90147-m

Cited by 33 publications

(23 citation statements)

References 14 publications

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“…have also shown tas as the most consistent finding MFH of soft tissue has been shown to have tas (Bridge et al, 1990a(Bridge et al, , 1992Bardi et al, 1991;(Mandahl et al, 1988), which were found in our Schwartz et al, 1991). T h e clonal t( 14;22)(q1 l;p12)…”

Section: Xxadd(5)(p L5)der(8)t(and?$)(q I I ;Kq2 I 3) +Der(8)t(8supporting

confidence: 75%

Tumor progression in a giant cell type malignant fibrous histiocytoma of bone: Clinical, radiologic, histologic, and cytogenetic evidence

Molenaar

Vandenberg

Veth

et al. 1994

Genes Chromosomes & Cancer

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A malignant fibrous histiocytoma (MFH) of bone arising in the fibula of a 21-year-old woman is described. Clinical, radiologic, and histologic findings demonstrated rapid tumor progression. Chromosomal analysis of the biopsy specimen showed great karyotypic heterogeneity, whereas the resection specimen four weeks later displayed a rather homogeneous karyotype. Both revealed a clonal t(14;22)(q11;p12). Several other clonal and non-clonal chromosomal aberrations were observed. Some of these were previously described in giant cell tumor of bone (GCTB) and may correlate with aggressive behavior, e.g., aberrations involving 8p11, 19q13, and 20q13. The change from karyotypic heterogeneity to relative homogeneity may be related to tumor progression. The chromosomal findings further suggest that the giant cell type of MFH of bone may be related to malignant GCTB.

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Section: Xxadd(5)(p L5)der(8)t(and?$)(q I I ;Kq2 I 3) +Der(8)t(8supporting

confidence: 75%

Tumor progression in a giant cell type malignant fibrous histiocytoma of bone: Clinical, radiologic, histologic, and cytogenetic evidence

Molenaar

Vandenberg

Veth

et al. 1994

Genes Chromosomes & Cancer

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“…Thus, in agreement with previous results (Schwartz et al, 1991), we can conclude that the high frequency of tas in GCTB is not a constitutional characteristic. In line with earlier observations (Bardi et al, 1991;Schwartz et al,1991;Bridge et al, 1992;Mandahl et al, 1998), we found a distribution of chromosome ends involved in tas that was clearly nonrandom. Apart from the short arms of the acrocentric chromosomes, the chromosome ends most often involved were 19q, 1q, 12p, 11p, and 20q.…”

Section: Cytogenetics Of Gctbsupporting

confidence: 92%

“…The proportion of clonally abnormal GCTB found after short-term culturing in our series, Genes, Chromosomes & Cancer DOI 10.1002/gcc about 50%, was higher than the previously reported frequencies of 30-40% (Bardi et al, 1991;Schwartz et al, 1991;Bridge et al, 1992). In the subset of 33 tumors analyzed in more detail clonal chromosome changes were detected in more than 90% of the samples.…”

Section: Discussioncontrasting

confidence: 77%

“…Apart from the short arms of the acrocentric chromosomes, the chromosome ends most often involved were 19q, 1q, 12p, 11p, and 20q. Previous studies have yielded somewhat different distributions of termini involved in tas: 19q, 15p, 3q, 22q, and 6p (Bardi et al, 1991), 19q, 11p, 20q, and 16p (Schwartz et al, 1991), 11p, 15p, 19q, 21p, 18p, 13p, and 20q (Bridge et al, 1992), and 11p, 19q, 15p, 21p, and 20q (Mandahl et al, 1998. Several factors may contribute to these partial discrepancies, e.g., the number of tumors and cells analyzed, the way of recording tas and, most importantly, the individual patient characteristics.…”

Section: Cytogenetics Of Gctbmentioning

confidence: 95%

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Cytogenetic analysis of 101 giant cell tumors of bone: Nonrandom patterns of telomeric associations and other structural aberrations

Gorunova

Steyern

Storlazzi

et al. 2009

Genes Chromosomes & Cancer

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Giant cell tumor of bone (GCTB) is a benign but locally aggressive tumor with metastatic potential. We performed cytogenetic analysis on 101 GCTB from 92 patients. Karyotypes were obtained from 95 tumors, 47 of which had clonal aberrations. The majority of the cytogenetically abnormal GCTB had multiple, up to 28 per tumor, clones. Clonal telomeric associations (tas) and other structural and numerical changes were found in about 70, 60, and 30%, respectively, of clonally abnormal tumors. Forty-seven aberrations were recurrent, of which 35 are novel. The vast majority of the recurrent aberrations were tas, confirming the important role of telomeric fusions in the development of GCTB. The frequency of tas in GCTB cultures increased with passaging, suggesting a selective advantage of tas-positive cells in vitro. The termini most frequently involved in tas were 22p, 13p, 15p, 21p, 14p, 19q, 1q, 12p, 11p, and 20q. The frequency of tas (irrespective of their clonality) was significantly higher in tumors carrying clonal changes, indicating that tas are precursors of other types of aberrations. In line with this assumption, the chromosomes preferentially involved in tas in a given tumor were also the ones most often affected by other rearrangements. We did not find the previously reported amplicon in 20q11.1, assessed by fluorescence in situ hybridization in 10 tumors. Nor did we find any association between cytogenetic features and adverse clinical outcome. Thus, local recurrences probably depend more on the adequacy of surgical treatment than on the intrinsic biology of the tumors.

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“…Telomeric associations are typical in GCT, and these associations lead to the fusion of the telomeric ends of different chromosomes resulting, in some cases, in a clonal character within a tumour [46][47][48][49]. Structural changes due to the presence of different chromosomes also occur; cytogenetic aberrations have been found, but to date there has been no discovery of any uniform structural or numeric chromosomal aberrations for GCT [3,6,30,37,45,48], although it is commonly believed that there are links between telomeric associations and the induction of structural chromosomal aberrations [5,29,45].…”

Section: Cytogenetical Featuresmentioning

confidence: 99%

Giant cell tumour of bone: morphological, biological and histogenetical aspects

Werner

2006

International Orthopaedics (SICOT)

212

156

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The giant cell tumour of bone (GCT) is a locally aggressive intraosseous neoplasm of obscure biological behaviour. Although well defined in clinical, radiological and histological terms, detailed information on its biological development is still relatively incomplete. The tumoral tissue consists of three cell types -the neoplastic giant cell tumour stromal cells (GCTSC), representing the proliferative fraction, secondarily recruited mononuclear histiocytic cells (MNHC) and multinuclear giant cells (MNGC). These cellular components interact together with factors that have a role in regulating osteoclast function in normal bone tissue (e.g. RANK, RANKL, OPG, M-CSF). Recent publications suggest that the neoplastic stromal cells express differentiation features of mesenchymal stem cells. Further research of the pathogenesis of GCT as well as the complex interactions of its cellular populations may provide the knowledge necessary for developing approaches for a biological-based therapy of this neoplasm.Résumé Les tumeurs à cellules géantes (GCT) sont des tumeurs localement agressives de type néoplasme intra osseux don't les mécanismes biologiques restent relativement obscurs. Cependant si ces tumeurs sont bien définies sur le plan clinique, radiologique et histologique, les détails marquants de leur développement biologique restent inconnus. Le tissu tumoral consiste en un stroma de tumeurs à cellules géantes (GCTSC) qui représente la partie prolifér-ative de la tumeur avec adjonction secondaire de cellules de type histogitaire mononuclées (MNHC) et de cellules géantes (MNGC). Ces composants cellulaires interagissent avec un certain nombre de facteurs régulant l'action ostéoclastique du tissu osseux normal (e.g. RANK, RANKL, OPG, M-CSF). De récentes publications permettent de penser que ce stroma cellulaire de type néoplasique exprime une différenciation de cellules mésenchymateuses. De prochaines recherches sur la pathogénèse des tumeurs à cellules géantes ainsi que sur les interactions complexes des différentes populations cellulaires devraient permettre d'approcher un traitement médical pour ce type de néoplasme.

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Chromosomal abnormalities in giant cell tumors of bone

Cited by 33 publications

References 14 publications

Tumor progression in a giant cell type malignant fibrous histiocytoma of bone: Clinical, radiologic, histologic, and cytogenetic evidence

Tumor progression in a giant cell type malignant fibrous histiocytoma of bone: Clinical, radiologic, histologic, and cytogenetic evidence

Cytogenetic analysis of 101 giant cell tumors of bone: Nonrandom patterns of telomeric associations and other structural aberrations

Giant cell tumour of bone: morphological, biological and histogenetical aspects

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