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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00007258naa a2200841 4500
001oai:lup.lub.lu.se:922fb88b-c459-4011-8876-fd94a5170d0e
003SwePub
008160401s2001 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:1960981
0247 a https://lup.lub.lu.se/record/11221952 URI
0247 a https://doi.org/10.1002/gcc.11552 DOI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:19609812 URI
040 a (SwePub)lud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Panagopoulos, Iu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)kgen-ipa
2451 0a Clinical impact of molecular and cytogenetic findings in synovial sarcoma
264 c 2001-06-07
264 1b Wiley,c 2001
300 a 11 s.
520 a Synovial sarcoma is an aggressive soft-tissue tumor that accounts for up to 10% of soft-tissue sarcomas. Cytogenetically, synovial sarcoma is characterized by the t(X;18)(p11;q11), found in more than 95% of the tumors. This translocation results in rearrangements of the SYT gene in 18q11 and one of the SSX1, SSX2, or SSX4 genes in Xp11, creating a SYT/SSX1, SYT/SSX2, or SYT/SSX4 chimeric gene. It has been shown that patients with SYT/SSX1 fusion genes have a shorter metastasis-free survival than do patients with SYT/SSX2. Previous studies have also suggested that clonal evolution may be associated with disease progression. In the present study, RT-PCR analysis showed that all 64 examined synovial sarcomas from 54 patients had SYT-SSX chimeric genes. SYT/SSX1 was found in 40 tumors from 33 patients, SYT/SSX2 in 23 tumors from 20 patients, and SYT/SSX4 in one case. Two patients had variant SYT/SSX2 transcripts, with 57 bp and 141 bp inserts, respectively, between the known SYT and SSX2 sequences. Patients with tumors with SYT/SSX1 fusions had a higher risk of developing metastases compared to those with SYT/SSX2 fusions (P = 0.01). The reciprocal transcripts SSX1/SYT and SSX2/SYT were detected using nested PCR in 11 of the 40 samples with SYT/SSX1 and 5 of the 23 samples with SYT/SSX2, respectively. Among 20 blood samples, SYT/SSX1 and SYT/SSX2 were detected in one sample each. The t(X;18), or variants thereof, was found cytogenetically in all patients but three. Among 32 primary tumors, the t(X;18) or a variant translocation was the sole anomaly in 10. In contrast, of the seven metastatic lesions that were investigated prior to radiotherapy, only one had a t(X;18) as the sole anomaly; all other tumors displayed complex karyotypes. Cytogenetic complexity in primary tumors was, however, not associated with the development of metastases. Tumors with SYT/SSX2 less often (4/12 vs. 7/15) showed complex karyotypes than did tumors with SYT/SSX1, but the difference was not significant. Combining cytogenetic complexity and transcript data, we found that the subgroup of patients with tumors showing simple karyotypes and SYT/SSX2 fusion had the best clinical outcome (2/8 patients developed metastases), and those with tumors showing complex karyotypes together with SYT/SSX1 fusion the worst (6/7 patients developed metastases). This corresponded to 5-year metastasis-free survival rates of 0.58 and 0.0, respectively (P = 0.02).
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
653 a Adolescent
653 a Adult
653 a Aged
653 a Aged, 80 and over
653 a Amino Acid Sequence
653 a Base Sequence
653 a Child
653 a Female
653 a Humans
653 a Karyotyping
653 a Male
653 a Middle Aged
653 a Molecular Sequence Data
653 a Neoplasm Proteins
653 a Oncogene Proteins, Fusion
653 a Proteins
653 a Proto-Oncogene Proteins
653 a Repressor Proteins
653 a Sarcoma, Synovial
653 a Sequence Analysis, DNA
653 a Soft Tissue Neoplasms
653 a Journal Article
653 a Research Support, Non-U.S. Gov't
7001 a Mertens, Fu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)kgen-fme
7001 a Isaksson, Margarethu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)kgen-mis
7001 a Limon, J4 aut
7001 a Gustafson, Pelleu Lund University,Lunds universitet,Ortopedi, Lund,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Orthopaedics (Lund),Section III,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)ort-pgu
7001 a Skytting, B4 aut
7001 a Åkerman, Månsu Lund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)pat-mak
7001 a Sciot, R4 aut
7001 a Dal Cin, P4 aut
7001 a Samson, I4 aut
7001 a Iliszko, M4 aut
7001 a Ryoe, J4 aut
7001 a Dêbiec-Rychter, M4 aut
7001 a Szadowska, A4 aut
7001 a Brosjö, Ou Karolinska Institutet4 aut
7001 a Larsson, Ou Karolinska Institutet4 aut
7001 a Rydholm, Au Lund University,Lunds universitet,Ortopedi, Lund,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ortopedisk sarkomforskning,Forskargrupper vid Lunds universitet,Orthopaedics (Lund),Section III,Department of Clinical Sciences, Lund,Faculty of Medicine,Orthopaedic Sarcoma Research,Lund University Research Groups4 aut0 (Swepub:lu)ort-ary
7001 a Mandahl, Nu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)kgen-nma
7102 a Avdelningen för klinisk genetikb Institutionen för laboratoriemedicin4 org
7730 t Genes, Chromosomes and Cancerd : Wileyg 31:4, s. 72-362q 31:4<72-362x 1045-2257
8564 u http://dx.doi.org/10.1002/gcc.1155y FULLTEXT
8564 8u https://lup.lub.lu.se/record/1122195
8564 8u https://doi.org/10.1002/gcc.1155
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:1960981

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