Fish Analysis of Supernumerary Ring Chromosome in Dermatofibrosarcoma Protuberans

Stenman, Göran; Andersson, H; Meis‐Kindblom, Jeanne M.; Röijer, Eva; Kindblom, Lars Gunnar

doi:10.3892/ijo.6.1.81

Cited by 6 publications

(9 citation statements)

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“…Therefore, these subentities will be addressed first. On the other hand, there are also benign mesenchymal tumors which apparently are lacking ring chromosomes, as, for instance, shown for 191 pulmo- (17) 12 (2) DFSP Pedeutour et al, 1994Minoletti et al, 1995;Stenman et al, 1995;Mandahl et al, 1996a;Vanni et al, 2000 r(17;22) DFSP Pedeutour et al, 1994;Minoletti et al, 1995;Naeem et al, 1995;Mandahl et al, 1996a;Vanni et al, 2000;Nishio et al, 2001b;Sirvent et al, 2003 Lipomatous tumors (including liposarcomas) r(1) 2 2 ALT Becher et al, 1984;Mandahl et al, 1994 r(1;4;19;12;15 , 1993b;Pedeutour et al, 1993Pedeutour et al, , 1994Pedeutour et al, , 1995bIwasaki et al, 1998;Mandahl et al, 1998;Gisselsson et al, 1999;Pilotti et al, 2000;Sirvent et al, 2000;Meis-Kindblom et al, 2001;Micci et al, 2002;Dahlen et al, 2003;Storlazzi et al, 2003 r(12; Gisselsson et al, 1999;Storlazzi et al, 2003;Lualdi et al, 2004 r(12) 8 2 MT, 1 STCH, 5 MFH Gibas et al, 1986;Nilbert et al, 1994;Gisselsson et al, 1999;Shadan et al, 2000 r(12;18) 1 1 SCS …”

Section: Ring Chromosomes In Mesenchymal Tumorsmentioning

confidence: 99%

Ring chromosomes in human neoplasias

Gebhart

2008

Cytogenet Genome Res

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Though reported from a wide variety of human neoplasias, ring chromosomes, in general, are a rare finding in these diseases. The majority were detected by chance when tumors were screened for chromosomal aberrations. In most cases they are a part of highly complex karyotypic alterations and therefore part of unfavourable prognostic factors. However, in some tumor entities (e.g. tumors of mesenchymal origin) they are of such high prevalence (up to 70% of these tumors) and of such extraordinary specificity that they can even serve as cytogenetic hallmarks for differential diagnosis and for prognostic purposes. The well-known technical problems in malignant cells of achieving high banding quality to define all single chromosomal alterations have severely hampered clear identification of the chromosomes involved in rings until recently. Substantial progress of ring identification could only be achieved when molecular cytogenetic techniques became available. By these techniques it could not only be shown that certain breakpoint regions nonrandomly contribute to ring rearrangements which – at least in certain malignancies – are of basic importance, but also the molecular consequences of these changes could be defined in some cases. The present review summarizes a great number of reports on a total of 760 ring chromosomes in human neoplasias at different sites, but includes only cases with clearly identified rings. In addition, the molecular consequences of ring formation are addressed wherever pertinent information has recently been presented in the literature.

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Section: Ring Chromosomes In Mesenchymal Tumorsmentioning

confidence: 99%

Ring chromosomes in human neoplasias

Gebhart

2008

Cytogenet Genome Res

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“…Amplified COL1A1 and PDGFB sequences have been identified in DFSP with a ring chromosome 5 and a marker chromosome composed of chromosomes 12q and 22 (33). Other cytogenetic findings include supernumerary ring chromosomes composed of chromosomes 17 and 22 sequences co-occurring with trisomy 5 and 8 (6, 7) or trisomy 8 (34, 35). Trisomy of chromosomes 4, 7, 11, 12, 13, 14, 15, 16, and 18 has also been observed (14).…”

Section: Discussionmentioning

confidence: 99%

Dermatofibrosarcoma Protuberans-Like Tumor With COL1A1 Copy Number Gain in the Absence of t(17;22)

Saab

Rosenthal

Wang

et al. 2017

The American Journal of Dermatopathology

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A 57 year-old woman presented with a three year history of a progressive firm plaque on the right cheek. Skin biopsies revealed a bland, storiform, spindle cell proliferation involving the deep dermis and subcutaneous fat. By immunohistochemistry the tumor cells were diffusely positive for CD34 and caldesmon with multifocal reactivity for EMA and focal, weak staining for SMA. Retinoblastoma protein expression was not detectable in tumor cells by immunohistochemistry. An interphase FISH analysis for PDGFB gene rearrangement was negative. A SNP-array study detected 1) a gain of chromosome segment 17q21.33-q25.3 which overlapped the entire COL1A1 gene with a breakpoint at 17q21.33, approximately 250 Kb centromeric to the 3′ end of COL1A1 gene, 2) several segmental gains on chromosome 11 and 3) an RB1 gene locus with normal copy number and allele frequency. While the current case resembles DFSP, it is unique in that it demonstrates a copy number gain of chromosome 17q in the absence of fusion of COL1A1 and PDGFB genes and an unusual immunohistochemical staining profile. The morphologic and molecular findings suggest a novel molecular variant of DFSP not detectable with standard FISH for PDGFB rearrangement. This variant appears to respond to imatinib after 9 months of follow-up.

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“…Metastasis, however, is rare. Cytogenetic analyses have been reported in 25 DFSP cases to date (Bridge et al, 1990;Mandahl et al, 1990b;Pedeutour et al, 1993aPedeutour et al, , 1995Pedeutour et al, , 1996aMitelman, 1994;Sinovic and Bridge, 1994;Craver et al, 1995a;Minoletti et al, 1995;Naeem et al, 1995;Stenman et al, 1995b). A major proportion of these cases (17/25) revealed a supernumerary ring chromosome or chromosomes as the consistent aberration, either as the sole abnormality or accompanied by simple trisomies, most often of chromosome 8.…”

Section: Benign Tumorsmentioning

confidence: 99%

The cytogenetic and molecular characterization of benign and malignant soft tissue tumors

Sreekantaiah

1998

Cytogenet Genome Res

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Cytogenetic analyses of benign and malignant soft tissue tumors have led to the description of recurrent, specific, and even pathognomonic chromosomal translocations and/or other rearrangements in most types of soft tissue tumors. The consistent karyotypic rearrangements have provided critical diagnostic information in this group of neoplasms that often presents significant diagnostic challenges to the clinician and the pathologist. These findings have also been instrumental in the characterization of the abnormalities at the molecular level. Novel genes have been isolated from the translocation junctions and the mechanisms of their deregulation identified. This has increased our understanding of the histogenesis of these tumors, paved the way for the molecular diagnosis of many sarcomas, aided in directing therapy, and also provided important prognostic information.

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Fish Analysis of Supernumerary Ring Chromosome in Dermatofibrosarcoma Protuberans

Cited by 6 publications

References 0 publications

Ring chromosomes in human neoplasias

Ring chromosomes in human neoplasias

Dermatofibrosarcoma Protuberans-Like Tumor With COL1A1 Copy Number Gain in the Absence of t(17;22)

The cytogenetic and molecular characterization of benign and malignant soft tissue tumors

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