Fusion of the RBP56 and CHN genes in extraskeletal myxoid chondrosarcomas with translocation t(9;17)(q22;q11)

Panagopoulos, Ioannis; Mencinger, Marina; Dietrich, Claudia U.; Bjerkehagen, Bodil; Sæter, Gunnar; Mertens, Fredrik; Mandahl, Nils; Heim, Sverre

doi:10.1038/sj.onc.1203155

Cited by 72 publications

(32 citation statements)

References 26 publications

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“…Only one chondrosarcoma subtype, extraskeletal myxoid chondrosarcoma, is reportedly characterized by recurrent or specific chromosomal translocations. These translocations, the t(9;22)(q22; q12) or its variant, t(9;17)(q22;q11.2), result in the fusion of the CHN (TEC) gene at 9q22 with the EWS gene at 22q12 or the TAF2N (RBP56) gene at 17q11.2 (12)(13)(14)(15)(16)(17)(18).…”

Section: Discussionmentioning

confidence: 99%

Translocation der(13;21)(q10;q10) in Skeletal and Extraskeletal Mesenchymal Chondrosarcoma

et al. 2002

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Cytogenetic studies of mesenchymal chondrosarcoma are few and to date, no specific or recurrent aberrations have been found. In this investigation, the cytogenetic and molecular cytogenetic (spectral karyotypic and fluorescence in situ hybridization) findings for two mesenchymal chondrosarcomas, one arising skeletally and the other extraskeletally, are reported. An identical Robertsonian translocation involving chromosomes 13 and 21 [der(13; 21)(q10;q10)] was detected in both cases, possibly representing a characteristic rearrangement for this histopathologic entity. Both cases also exhibited loss of all or a portion of chromosomes 8 and 20 and gain of all or a portion of chromosome 12. The observation of similar chromosomal abnormalities in both skeletal and extraskeletal mesenchymal chondrosarcoma supports a genetic as well as histopathologic relationship between these anatomically distinct neoplasms.

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Section: Discussionmentioning

confidence: 99%

Translocation der(13;21)(q10;q10) in Skeletal and Extraskeletal Mesenchymal Chondrosarcoma

et al. 2002

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“…The karyotypic complexity also varies widely, with some tumors showing a single numerical or structural chromosome aberration and others grossly rearranged karyotypes. Specific chromosomal changes have been noted only in extraskeletal myxoid chondrosarcomas (EMCs) that are characterized by t(9;22)(q22;q12) or, less often, t(9; 17)(q22;q11) and t(9;15)(q22;q21), resulting in the formation of the fusion genes EWS/CHN, RBP56/ CHN, and TCF12/CHN, respectively (Labelle et al, 1995;Stenman et al, 1995;Attwooll et al, 1999;Panagopoulos et al, 1999;Sjögren et al, 1999Sjögren et al, , 2000. Although nonrandom aberrations have been reported in other chondrosarcomas, no specific changes have been identified.…”

Section: Introductionmentioning

confidence: 99%

Cytogenetic aberrations and their prognostic impact in chondrosarcoma

Mandahl

Gustafson

Mertens

et al. 2001

Genes Chromosomes & Cancer

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Chondrosarcoma is the second most common primary malignancy of bone. Cytogenetic data are available from close to 100 cases, including all subtypes of chondrosarcoma. Specific chromosomal rearrangements have been identified only in extraskeletal myxoid chondrosarcoma (EMC). Strong prognostic factors are largely missing, although size and, in particular, histologic tumor grade have been implicated. In the present study, we investigated the genomic aberrations in 59 chondrosarcomas (six grade 1, 24 grade 2, and 29 grade 3, including dedifferentiated tumors), excluding EMC, by chromosome banding analysis and DNA flow cytometry and correlated the findings with clinical outcome. Hyperhaploid to near-diploid karyotypes were found in half of the cases, and there was a good correlation between cytogenetics and flow cytometry data; discrepancies were seen primarily in cases with normal karyotypes and in those with -Y as the sole anomaly. Abnormal karyotypes, excluding those with -Y as the only change, were found in 36 cases. No recurrent structural aberration was found, but a nonrandom pattern of aberrations was seen. Total or partial gains and losses were the dominant karyotypic features. Genomic imbalances found in at least 10 cases included -1p36, -1p13-p22, -4, -5q13-q31, -6q22-qter, +7p13-pter, -9p22-pter, -10p, -10q24-qter, -11p13-pter, -11q25, +12q15-qter, -13q21-qter, -14q24-qter, -18p, -18q22-qter, +19, +20pter-q11, +21q, and -22q13. At the latest follow-up, 19 patients had experienced distant metastases, and the 5-year metastasis-free survival rate was 0.69. By univariate analysis, malignancy grade and loss of material from 6q, 10p, 11p or 11q, 13q, and 22q were associated with impaired metastasis-free survival. Only -13q was an independent prognostic factor for metastasis, regardless of tumor grade or size.

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“…Recent cytogenetic and molecular studies have shown that EMC has recurrent chromosomal translocations such as t(9;22)(q22;q12) and t(9; 17)(q22;q11), resulting in fusions of the EWS and TAF2N (also called hTAFii68 or RBP56) genes to the NOR1 gene (also known as TEC, CHN, or MI-NOR), respectively (Clark et al, 1996;Brody et al, 1997;Attwooll et al, 1999;Labelle et al, 1999;Panagopoulos et al, 1999;Sjö gren et al, 1999). More recently, another type of chromosomal translocation, t(9;15)(q22;q21), generating a TCF12/ NOR1 fusion gene, has been identified in a case of a cellular-solid variant of EMC (Sjö gren et al, 2000).…”

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confidence: 97%

TFG is a novel fusion partner of NOR1 in extraskeletal myxoid chondrosarcoma

Hisaoka

Ishida

Imamura

et al. 2004

Genes Chromosomes & Cancer

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Extraskeletal myxoid chondrosarcoma (EMC) is characterized by recurrent chromosomal translocations resulting in fusions of the nuclear receptor gene NOR1 (also known as CHN or TEC) to various N-terminal partners, including EWS and TAF2N (or RBP56). Significant structural homology of EWS or TAF2N to TLS (or FUS) prompted us to investigate a potential novel gene fusion of NOR1 to TLS in EMCs without detectable known NOR1 fusions. In one of the EMCs examined, our reverse-transcription polymerase chain reaction using NOR1 and TLS primers unexpectedly amplified a cDNA sequence derived not from a TLS/NOR1 fusion but from a TFG/NOR1 fusion, a hitherto undescribed fusion type in EMC, probably a result of incidental misannealing by the TLS primer, which has a sequence partially identical to TFG. Encoding a protein with a putative coiled-coil structure, TFG previously was identified by a homology search in the Expressed Sequence Tag Database as having an SPYGQ-rich region similar to the N-terminal parts of EWS and TLS. TFG/NOR1 fusion appears to play an oncogenic role equivalent to those of other NOR1 fusions in EMC.

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Fusion of the RBP56 and CHN genes in extraskeletal myxoid chondrosarcomas with translocation t(9;17)(q22;q11)

Cited by 72 publications

References 26 publications

Translocation der(13;21)(q10;q10) in Skeletal and Extraskeletal Mesenchymal Chondrosarcoma

Translocation der(13;21)(q10;q10) in Skeletal and Extraskeletal Mesenchymal Chondrosarcoma

Cytogenetic aberrations and their prognostic impact in chondrosarcoma

TFG is a novel fusion partner of NOR1 in extraskeletal myxoid chondrosarcoma

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