| 1. |
- Hansén Nord, Karolin, et al.
(author)
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Tiling resolution array comparative genomic hybridization analysis of a fibrosarcoma of bone.
- 2007
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In: Cancer Genetics and Cytogenetics. - : Elsevier BV. - 0165-4608. ; 172:1, s. 80-83
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Journal article (peer-reviewed)abstract
- Fibrosarcoma of bone is a rare malignant tumor accounting for less than 5% of all primary malignant bone neoplasms. There is very limited knowledge regarding the molecular genetics of this tumor, and there are no cytogenetic data available. In the present study, a fibrosarcoma deriving from the left iliac bone of a 10-year-old girl was characterized using cytogenetics, fluorescence in situ hybridization (FISH), and whole genome tiling resolution array comparative genomic hybridization (CGH). Cytogenetic and FISH analyses revealed a ring chromosome 6 as the sole acquired aberration, a finding corroborated by array CGH. The ring formation, however, did not result in any gain of genetic material. Nor did the breakpoints in 6p25 and 6q14 seem to affect any known gene loci in such a way that the ring formation could have resulted in the creation of a fusion gene or in the exchange of regulatory sequences. Thus, a reasonable interpretation of the pathogenetic significance of the ring formation would be that it resulted in the loss of one or more putative tumor suppressor gene loci distal to the two breakpoints.
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| 2. |
- Mertens, Fredrik, et al.
(author)
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Prognostic significance of chromosome aberrations in high-grade soft tissue sarcomas
- 2006
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In: Journal of Clinical Oncology. - 1527-7755. ; 24:2, s. 315-320
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Journal article (peer-reviewed)abstract
- Purpose To investigate whether previously observed correlations between tumor karyotype and risk of metastases could be reproduced in an independent set of high-grade soft tissue sarcomas (STSs). Patients and Methods In a previous study on high-grade STSs with clonal chromosome aberrations, we identified a number of cytogenetic variables, besides tumor grade and size, that were associated with significantly increased risk of metastases. In the present study, we have tested the predictive value of these cytogenetic variables in a new set of 156 high-grade STSs, all located in the extremities or trunk wall. Results Of the 10 cytogenetic variables that turned out to provide prognostic information in the previous series, encompassing 122 trunk wall or extremity STSs, three were significantly associated with metastases also in the new series. In a final Cox regression analysis including these three cytogenetic variables, as well as tumor grade and size, on the combined series of 278 high-grade STSs, four parameters were found to be significantly associated with metastasis risk: tumor grade 3, tumor size >= 5 cm, breakpoint in region 1p1, and gain of region 6p1. Conclusion Our findings suggest that independent prognostic information may be gained from cytogenetic analysis of high-grade STS.
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| 3. |
- Skorpil, Mikael, et al.
(author)
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The effect of radiotherapy on fat content and fatty acids in myxoid liposarcomas quantified by MRI
- 2017
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In: Magnetic Resonance Imaging. - : Elsevier. - 0730-725X .- 1873-5894. ; 43, s. 37-41
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Journal article (peer-reviewed)abstract
- Background: Myxoid liposarcomas are highly radiosensitive. Consequently radiotherapy is often used pre-operatively to reduce tumor volume and lessen the post-operative deficit. In soft-tissue sarcomas therapy response is mainly evaluated using magnetic resonance imaging (MRI) and the fundamental criterion for a positive response is decreased tumor size. In myxoid liposarcomas an increased fat content is also known to occur as a response to radiotherapy. Objective: To highlight the difficulties of MRI for therapy response evaluation in irradiated myxoid liposarcomas, by using MRI Dixon techniques enabling objective quantification of proton density fat fraction (%) and the number of double bonds (ndb; unsaturation degree) of fatty acids. Secondly, to compare quantitative fat fraction measurements versus visual grading of fat content on T1-weighted images. Case descriptions: Prior to surgery, two patients with myxoid liposarcoma were treated with 50 Gy. Following radiotherapy, both tumors on MRI showed reduced size, elevated fat fraction and transformed fat fraction histograms with diverse changes of ndb, while histopathological specimens showed discordant treatment effects; one case having good response and the other having poor response. Conclusions: A decrease in tumor size and increase in fat content on MRI cannot be interpreted as positive therapy response in radiotherapy of myxoid liposarcomas. Our data also give further supporting evidence that differentiation and maturation of tumor cells is the cause for the lipoma-like areas seen after radiotherapy. Finally, quantitative MRI Dixon techniques are preferable to visual grading for estimating the fat content in lipomatous tumors.
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| 4. |
- Smeland, Sigbjorn, et al.
(author)
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Scandinavian experience in classical osteosarcoma Results of the SSG XIV protocol
- 2009
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In: Acta Orthopaedica. - 1745-3682. ; 80, s. 60-66
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Journal article (peer-reviewed)abstract
- Background and purpose The Scandinavian Sarcoma Group (SSG) XIV protocol was based upon the organisations experience from 3 previous osteosarcoma trials and was considered best standard of care for patients with extremity localised, non-metastatic osteosarcoma. We report the outcome of this protocol. Patients and methods From March 2001 to April 2005, 63 patients recruited from 10 centres in Finland, Sweden and Norway were included in this analysis. Patients received pre-operative chemotherapy consisting of 2 cycles of paired methotrexate (12 g/m(2)), cisplatin (90 mg/m(2)) and doxorubicin (75 mg/m(2)). Good histological responders continued with 3 cycles postoperatively whilst poor responders were salvaged with the addition of 3 cycles of ifusfamide (10-12 g/m(2)). Outcome data was compared to previous SSG osteosarcoma trials. Results With a median follow-up of 64 months for survivors, the projected metastasis-free and sarcoma-related survivals at 5 years were 69% and 77%, respectively. 84% of the patients were treated with limb salvage surgery (49 patients) or rotationplasty (4 patients). 3 toxic deaths (5%) were recorded, all related to acute chemotherapy toxicity. The 5-year metastasis-free survival of patients receiving salvage therapy was 47% compared to 89% for good histological responders that only received the 3 drug combination postoperatively. Interpretation Outcome in the SSG XIV protocol compares favourably to previous SSG osteosarcoma trials and other published trials. The addition of ifosfamide to poor responders as an add on treatment did not improve outcome for poor responders to a similar level as for good responders. In a multi-institutional setting limb salvage surgery can safely be used in more than 80% of the patients.
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| 6. |
- Storlazzi, Tiziana, et al.
(author)
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Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma
- 2003
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 12:18, s. 2349-2358
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Journal article (peer-reviewed)abstract
- The FUS gene at 16p11 fuses with DDIT3 and ATF1 as the result of translocations with chromosome band 12q13 in myxoid liposarcoma and angiomatoid fibrous histiocytoma, respectively, and with ERG as the result of a t(16;21)(p11;q22) in acute myeloid leukemia. We here show that a t(7;16)(q33;p11) in two cases of low grade fibromyxoid sarcoma fuses the FUS gene to BBF2H7, a previously uncharacterized gene that is homologous to the Drosophila Bbf-2 gene. BBF2H7 spans more than 120 kbp genomic DNA, is composed of 12 exons and contains a 1560 bp open reading frame. It codes for a 519 amino acid protein that contains a basic DNA binding and leucine zipper dimerization (B-ZIP) motif, highly similar to that in the OASIS, CREB-H, CREB4 and CREB3 transcription factors, followed by a hydrophobic region predicted to be an alpha-helical transmembrane domain. Reverse transcription-polymerase chain reaction (RT-PCR), using FUS forward and BBF2H7 reverse primers, amplified FUS/BBF2H7 chimeric transcripts composed of the first five exons and part of exon 6 of FUS and part of exon 5 and exons 6-12 of BBF2H7. The FUS/BBF2H7 chimera codes for a protein containing the N-terminus of FUS and the B-ZIP domain and the C-terminus of BBF2H7.
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