論文 - 詳細
| RRC ID | 36927 |
|---|---|
| 著者 | Mikami T, Kurose A, Javed F, Takeda Y. |
| タイトル | Detection of Rare Variant of SS18-SSX1 Fusion Gene and Mutations of Important Cancer-Related Genes in Synovial Sarcoma of the Lip: Gene Analyses of a Case and Literature Review. |
| ジャーナル | J Oral Maxillofac Surg |
| Abstract |
Synovial sarcoma (SS) accounts for 5 to 10% of soft tissue sarcomas; however, intraoral SS is rare. Histopathologically, SS shows a biphasic pattern with epithelial and spindle cell components or a monophasic pattern with only spindle cells. The precise diagnosis of SS, especially at an unusual site, is often a challenge to pathologists and clinical oncologists, because the differential diagnosis of SS includes a broad range of tumors, such as soft tissue sarcomas and carcinomas. In the present case, the patient was a 50-year-old woman who presented with the chief complaint of swelling and a slowly enlarging mass of the lower lip in the mucolabial fold region. The mass was covered with intact mucosa and intraoral examination showed no malignant findings. The clinical diagnosis was a benign tumor and a probable salivary gland tumor. Macroscopically, the excised mass also indicated a benign tumor; however, histopathologic findings suggested the diagnosis of SS. For definitive diagnosis, genetic analyses were performed with conventional polymerase chain reaction and next-generation sequencing. As a result, a rare variant of the SS18-SSX1 fusion transcript, which could not be identified by routine procedures for genetic diagnosis, was detected. In addition, 8 missense mutations of cancer-related genes were confirmed. Detection of the fusion transcript is widely used in the diagnosis of SS; however, reported cases of transcript variants of each fusion gene type are limited. Reports of mutational analysis of cancer-related genes on SS also are rare. The accumulation of rare transcript variants and the cytogenetic characters of SS are suggested to be necessary for assuming a genetic diagnosis of SS. |
| 巻・号 | 73(8) |
| ページ | 1505-15 |
| 公開日 | 2015-8-1 |
| DOI | 10.1016/j.joms.2015.02.010 |
| PII | S0278-2391(15)00193-7 |
| PMID | 25959879 |
| MeSH | DNA Primers Female Gene Fusion* Humans Lip Neoplasms / genetics* Middle Aged Mutation, Missense* Neoplasm Proteins / genetics* Proto-Oncogene Proteins / genetics* Repressor Proteins / genetics* Reverse Transcriptase Polymerase Chain Reaction Sarcoma, Synovial / genetics* Sequence Analysis, DNA |
| IF | 1.642 |
| 引用数 | 5 |
| WOS 分野 | DENTISTRY, ORAL SURGERY & MEDICINE |
| オルトメトリクス指標 |
オルトメトリクス指標項目
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| 各媒体での言及数の合計 | 0 |
| リソース情報 | |
| ヒト・動物細胞 | HS-SY-II(RCB2231) |