Molecular diagnosis of synovial sarcoma and characterization of a variant SYT-SSX2 fusion transcript.
Molecular diagnosis of synovial sarcoma and characterization of a variant SYT-SSX2 fusion transcript.
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滑膜肉瘤的分子诊断和变异 SYT-SSX2 融合转录本的表征。
DOI：
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发表时间：
1995
影响因子：
6
通讯作者：
M. Ladanyi
中科院分区：
文献类型：
--
作者：
I. Fligman;F. Lonardo;Suresh C. Jhanwar;William L. Gerald;James M. Woodruff;M. Ladanyi
The translocation t(X;18)(p11;q11) is seen in > 80% of synovial sarcomas (SS) with informative karyotypes. The breakpoints of the t(X;18) have been cloned and shown to involve two novel genes, SSX (at Xp11) and SYT (at 18q11), which produce a chimeric SYT-SSX transcript as a result of the translocation. Recently, SSX has been shown to be duplicated, with both copies, SSX1 and SSX2, located within distinct subregions of Xp11. We performed a reverse transcriptase polymerase chain reaction (RT-PCR) assay for both chimeric SYT-SSX transcripts in a series of 35 SS (29 monophasic, 6 biphasic) to assess its usefulness in molecular diagnosis and to evaluate the incidence of molecular variants. Of the 35 cases, 29 (83%) showed a specific SYT-SSX RT-PCR product, using a consensus primer for SSX1 and SSX2 Upon excluding three negative cases that had poor quality RNA, the proportion of positives rose to 91% (29/32). The 29 positive cases were further studied using primers specific for either SSX1 or SSX2; 19 cases were positive for SYT-SSX1 and 10 for SYT-SSX2. The relationship of histological subtype (monophasic versus biphasic) to SSX1 or SSX2 involvement was not statistically significant. In a single histologically unremarkable monophasic SS, a slightly larger SYT-SSX2 RT-PCR product was observed. Sequencing of this novel variant showed a 129-bp segment inserted between the usual SYT and SSX2 fusion points, of which 126 bp were derived from a more proximal (5') portion of SSX2 The 3 bp immediately 5' to the fusion point could not be assigned to either SYT or SSX2 and may represent an insertion-deletion or a cryptic splicing event. This fragment maintains the reading frame of the chimeric product and encodes a predicted protein larger by 43 amino acids, which nevertheless replaces the region homologous to the transcriptional repression domain Kruppel-associated box, recently recognized in the 5' portion of the SSX genes, with all but the 3' end of the SYT transcript. Thus, a diagnosis of SS may be confirmed in > 90% of cases using RT-PCR detection of the chimeric transcript resulting from the t(X;18), and the incidence of molecular variants appears low.
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影响因子：
11.2
作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
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影响因子：
4.1
作者：
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通讯作者：
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DOI：
--
发表时间：
1994
期刊：
The American journal of pathology
影响因子：
--
作者：
Sreekantaiah,C;Ladanyi,M;Rodriguez,E;Chaganti,RS
通讯作者：
Chaganti,RS