SYT-SSX fusion genes in synovial sarcoma of the thorax

Masaaki Yano, Shinichi Toyooka, Kazunori Tsukuda, Hideaki Dote, Yuki Morimoto, Norihide Ohata, Kouichi Ichimura, Motoi Aoe, Hiroshi Date, Nobuyoshi Shimizu

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

Synovial sarcoma (SS) is characterized by a chromosomal translocation resulting in the expression of an SYT-SSX chimeric transcript, usually SYT-SSX1 or SYT-SSX2. Synovial sarcoma typically originates in the limbs, and its location in the thorax is rare. Synovial sarcomas are usually classified into three histologic subtypes: biphasic, monophasic and poorly differentiated tumors. The detection of the characteristic chimeric transcript often contributes to a histopathological diagnosis, especially when the tumor arises in an unusual location. Previous studies have shown that SYT-SSX1 is the most common SYT-SSX fusion transcript in biphasic synovial sarcomas of the limbs. Here, we report two cases of synovial sarcoma originating in the thorax. The presence of SYT-SSX2 chimeric transcripts was confirmed by reverse transcript polymerase chain reaction (RT-PCR) and a direct sequencing analysis in both cases. The tumor in case 1 originated from the pericardium, which is an exceedingly rare site for primary synovial sarcoma; only three other cases of synovial sarcoma originating in the pericardium have been previously reported. Case 2 exhibited a biphasic synovial sarcoma of the mediastinum containing an SYT-SSX2 fusion transcript, which is a rare fusion type in biphasic synovial sarcomas of the limbs. We reviewed previous reports of thoracic synovial sarcomas containing an analysis of the SYT-SSX fusion transcript and found that case 2 in the present study was the first description of a biphasic synovial sarcoma of the thorax with an SYT-SSX2 fusion transcript. However, the number of reported cases was not sufficient to conclude that SYT-SSX2 fusion in biphasic synovial sarcoma of the thorax is, indeed, rare. Further genetic analysis is needed to fully understand the biological and clinical features of synovial sarcoma originating in the thorax.

Original languageEnglish
Pages (from-to)391-397
Number of pages7
JournalLung Cancer
Volume44
Issue number3
DOIs
Publication statusPublished - Jun 2004

Fingerprint

Synovial Sarcoma
Gene Fusion
Thorax
Extremities
Pericardium
Neoplasms
Genetic Translocation
Mediastinum
SYT-SSX fusion protein

Keywords

  • Mediastinum
  • Pericardium
  • Synovial sarcoma
  • SYT-SSX
  • Thorax

ASJC Scopus subject areas

  • Oncology

Cite this

Yano, M., Toyooka, S., Tsukuda, K., Dote, H., Morimoto, Y., Ohata, N., ... Shimizu, N. (2004). SYT-SSX fusion genes in synovial sarcoma of the thorax. Lung Cancer, 44(3), 391-397. https://doi.org/10.1016/j.lungcan.2003.11.011

SYT-SSX fusion genes in synovial sarcoma of the thorax. / Yano, Masaaki; Toyooka, Shinichi; Tsukuda, Kazunori; Dote, Hideaki; Morimoto, Yuki; Ohata, Norihide; Ichimura, Kouichi; Aoe, Motoi; Date, Hiroshi; Shimizu, Nobuyoshi.

In: Lung Cancer, Vol. 44, No. 3, 06.2004, p. 391-397.

Research output: Contribution to journalArticle

Yano, M, Toyooka, S, Tsukuda, K, Dote, H, Morimoto, Y, Ohata, N, Ichimura, K, Aoe, M, Date, H & Shimizu, N 2004, 'SYT-SSX fusion genes in synovial sarcoma of the thorax', Lung Cancer, vol. 44, no. 3, pp. 391-397. https://doi.org/10.1016/j.lungcan.2003.11.011
Yano M, Toyooka S, Tsukuda K, Dote H, Morimoto Y, Ohata N et al. SYT-SSX fusion genes in synovial sarcoma of the thorax. Lung Cancer. 2004 Jun;44(3):391-397. https://doi.org/10.1016/j.lungcan.2003.11.011
Yano, Masaaki ; Toyooka, Shinichi ; Tsukuda, Kazunori ; Dote, Hideaki ; Morimoto, Yuki ; Ohata, Norihide ; Ichimura, Kouichi ; Aoe, Motoi ; Date, Hiroshi ; Shimizu, Nobuyoshi. / SYT-SSX fusion genes in synovial sarcoma of the thorax. In: Lung Cancer. 2004 ; Vol. 44, No. 3. pp. 391-397.
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AB - Synovial sarcoma (SS) is characterized by a chromosomal translocation resulting in the expression of an SYT-SSX chimeric transcript, usually SYT-SSX1 or SYT-SSX2. Synovial sarcoma typically originates in the limbs, and its location in the thorax is rare. Synovial sarcomas are usually classified into three histologic subtypes: biphasic, monophasic and poorly differentiated tumors. The detection of the characteristic chimeric transcript often contributes to a histopathological diagnosis, especially when the tumor arises in an unusual location. Previous studies have shown that SYT-SSX1 is the most common SYT-SSX fusion transcript in biphasic synovial sarcomas of the limbs. Here, we report two cases of synovial sarcoma originating in the thorax. The presence of SYT-SSX2 chimeric transcripts was confirmed by reverse transcript polymerase chain reaction (RT-PCR) and a direct sequencing analysis in both cases. The tumor in case 1 originated from the pericardium, which is an exceedingly rare site for primary synovial sarcoma; only three other cases of synovial sarcoma originating in the pericardium have been previously reported. Case 2 exhibited a biphasic synovial sarcoma of the mediastinum containing an SYT-SSX2 fusion transcript, which is a rare fusion type in biphasic synovial sarcomas of the limbs. We reviewed previous reports of thoracic synovial sarcomas containing an analysis of the SYT-SSX fusion transcript and found that case 2 in the present study was the first description of a biphasic synovial sarcoma of the thorax with an SYT-SSX2 fusion transcript. However, the number of reported cases was not sufficient to conclude that SYT-SSX2 fusion in biphasic synovial sarcoma of the thorax is, indeed, rare. Further genetic analysis is needed to fully understand the biological and clinical features of synovial sarcoma originating in the thorax.

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