Synovial sarcoma with a secondary chromosome change der(22)t(17;22)(q12;q12)
| Autor: | Hiroshi Iwasaki, Nanao Kamada, Yasuhiko Kaneko, Yuko Ohjimi, Masako Ishiguro, Masahiro Kikuchi, Jun Nishio, Masatoshi Naito, Teruto Isayama |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Adult
congenital hereditary and neonatal diseases and abnormalities Cancer Research Transcription Genetic Chromosomes Human Pair 22 Biphasic Synovial Sarcoma Chromosomal translocation Biology Translocation Genetic Fusion gene Sarcoma Synovial Proto-Oncogene Proteins Genetics medicine Humans Molecular Biology DNA Primers Chromosome Aberrations Base Sequence medicine.diagnostic_test Reverse Transcriptase Polymerase Chain Reaction Chromosome Mapping Proteins Karyotype medicine.disease Molecular biology Synovial sarcoma Repressor Proteins Blotting Southern Fusion transcript Karyotyping Female Chromosome 22 Chromosomes Human Pair 17 Fluorescence in situ hybridization |
| Zdroj: | Cancer Genetics and Cytogenetics. 137:23-28 |
| ISSN: | 0165-4608 |
| DOI: | 10.1016/s0165-4608(02)00550-2 |
| Popis: | A consistent, pathognomonic translocation, most commonly a balanced reciprocal translocation, t(X;18) (p11.2;q11.2), is found in more than 90% of synovial sarcomas. We report here a secondary chromosome change, der(22)t(17;22)(q12;q12), in addition to the primary t(X;18)(p11.2;q11.2) in a biphasic synovial sarcoma that occurred in the thigh of a 34-year-old woman. Although the karyotype of the primary tumor exhibited 46,X,t(X;18)(p11.2;q11.2), the recurrent tumor showed 46,X,der(X)t(X;18)(p11.2;q11.2),der(22) t(17;22)(q12;q12). The SYT-SSX1 fusion transcript was demonstrated in the primary and recurrent tumors using a reverse transcriptase polymerase chain reaction (RT-PCR). Southern blot analysis also confirmed that the detected messages were derived from the SYT-SSX fusion gene. However, we could not detect the EWS-E1AF fusion gene that has been reported to be generated through a t(17;22)(q12;q12) by RT-PCR. Furthermore, fluorescence in situ hybridization (FISH) with cosmid probes corresponding to loci flanking the EWSR1 region demonstrated no split of chromosome 22 in all analyzed interphase nuclei. To our knowledge, this is the first reported case of synovial sarcoma in which an additional (secondary) chromosome change, der(22)t(17;22)(q12;q12), has been demonstrated. |
| Databáze: | OpenAIRE |
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