Involvement of chromosomes 17 and 22 in dermatofibrosarcoma protuberans

Minoletti, Fabiola; Miozzo, Monica; Pédeutour, Florence; Sard, Laura; Pilotti, Silvana; Azzarelli, Alberto; Turc‐Carel, Claude; Pierotti, Marco A.; Sozzi, Gabriella

doi:10.1002/gcc.2870130110

Cited by 66 publications

(39 citation statements)

References 21 publications

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“…The latter express PDGF receptors and are therefore adequate recipient cells to detect an autocrine mechanism leading to transformation. The DNA of all the DP analysed, previously shown to contain the t(17;22) translocation (Minoletti et al, 1995), was able to induce NIH3T3 transformation. The molecular analysis of the derived transformed cell lines revealed the presence of a COL1A1/PDGFB rearrangement.…”

Section: Discussionmentioning

confidence: 90%

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Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans

et al. 1998

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As a consequence of a reciprocal translocation t(17;22)(q22;q13) and of supernumerary ring chromosomes derived from the t(17;22), a fusion between the platelet-derived growth factor b-chain (PDGF, c-sis proto-oncogene) and the collagen type 1A1 (COL1A1) genes has been recently described in dermato®brosarco-ma protuberans (DP), an in®ltrating skin tumor (Simon et al., 1997). Although PDGFB has been implicated in transforming processes via autocrine and paracrine pathways, by the activation of the cognate receptor, no direct evidence of its involvement in neoplastic transformation of human tumours has been so far provided. In this report, we have tested the DNA from four DPs in the classical DNA transfection assay onto NIH3T3 ®broblast cell line. All the DNAs induced the formation of transformed foci in the transfected cultures whose derived cell lines were shown to contain a fused sequence comprising the human COL1A1 and PDGF genes. The relative breakpoint regions have been sequenced revealing that this gene fusion deleted exon 1 of PDGF and released the growth factor from its normal regulation. All the biochemical and biological assays were consistent with the model of an autocrine mechanism for NIH3T3 transformation by the human rearranged PDGFB gene involving the activation of the endogeneous PDGF receptor.

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Section: Discussionmentioning

confidence: 90%

“…We approached this matter by investigating the transforming activity of the DNA from four dermato®brosarcomas carrying the t(17;22)(q22;q13) translocation (Minoletti et al, 1995). We found all of them capable to induce foci formation in NIH3T3 cells.…”

Section: Introductionmentioning

confidence: 99%

Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans

et al. 1998

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“…1,5,13,14,[19][20][21] These rearrangements result in the fusion of the a1 chain of type-1 collagen (COL1A1) gene on chromosome 17 and the platelet-derived growth factor b (PDGFB) gene on chromosome 22. The breakpoint in PDGFB gene is constant, placing exon 2 under the control of the COL1A1 promoter.…”

Section: Discussionmentioning

confidence: 99%

“…[8][9][10][11][12] This abnormality involves the chromosomes 17 and 22, and forms the fusion gene collagen type-1 alpha 1 (COL1A1)-platelet-derived growth factor b (PDGFB). 1,5,[13][14] This rearrangement can be detected by fluorescence in situ hybridization (FISH) analysis. 8 It is now well established that a high proportion of sarcomas is associated with specific cytogenetic lesions.…”

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confidence: 99%

Fluorescence in situ hybridization analysis is a helpful test for the diagnosis of dermatofibrosarcoma protuberans

et al. 2015

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Cytogenetically, most dermatofibrosarcoma protuberans are characterized by chromosomal rearrangements resulting in the collagen type-1 alpha 1 (COL1A1)-platelet-derived growth factor b (PDGFB) fusion gene. This abnormality can be detected by fluorescence in situ hybridization (FISH) analysis in routine practice. The aim of this study was to evaluate the role of the FISH analysis in the diagnosis of dermatofibrosarcoma protuberans. A FISH analysis was prospectively and systematically performed on a series of 448 consecutive tumor specimens. All cases were reviewed by two independent pathologists and classified in three categories according to the probability of a DFSP diagnosis before molecular analyses. Cases were classified as certain when dermatofibrosarcoma protuberans was the only possible diagnosis. Those cases for which dermatofibrosarcoma protuberans remained the first diagnosis, but other differential diagnosis existed, were regarded as probable. When dermatofibrosarcoma protuberans was considered a differential diagnosis, they were labeled as possible. The final diagnosis was supported by clinicopathological findings and results of FISH analyses. Immunohistochemical analysis of CD34 was systematically performed, and additional markers when necessary. The cases (n ¼ 37) with a non-interpretable FISH were excluded. For the 185 certain tumors specimens: 178 (96%) FISH analyses showed a PDGFB/COL1A1 rearrangement, 7 (4%) were negative. For the 114 probable tumors specimens: 104 (91%) FISH analyses were positive and 10 (9%) were negative leading to a new diagnosis in 8 cases. For the 112 possible cases: 91 (81%) FISH analyses were negative and 21 (19%) were positive. Of the 21 cases, initial diagnoses included unclassified sarcoma, myxofibrosarcoma, dermatofibroma, reactive lesion, solitary fibrous tumor, perineurioma, benign nerve sheath tumor, and undifferentiated spindle cell tumor without malignant evidence. FISH analysis has been helpful for confirming the diagnosis of dermatofibrosarcoma protuberans in 25% (104/411) of cases and necessary for the diagnosis of dermatofibrosarcoma protuberans in 5% (21/411) of cases.

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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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Involvement of chromosomes 17 and 22 in dermatofibrosarcoma protuberans

Cited by 66 publications

References 21 publications

Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans

Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans

Fluorescence in situ hybridization analysis is a helpful test for the diagnosis of dermatofibrosarcoma protuberans

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

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