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Gene Expression Profiling of Synovial Sarcoma: Distinct Signature of Poorly Differentiated Type

Nakayama, Robert MD, PhD* †; Mitani, Sachiyo BS*; Nakagawa, Takeshi MS*; Hasegawa, Tadashi MD, PhD; Kawai, Akira MD, PhD§; Morioka, Hideo MD, PhD; Yabe, Hiroo MD, PhD; Toyama, Yoshiaki MD, PhD; Ogose, Akira MD, PhD; Toguchida, Junya MD, PhD; Nakayama, Tomitaka MD, PhD; Yoshida, Teruhiko MD, PhD*; Ichikawa, Hitoshi PhD*

The American Journal of Surgical Pathology: November 2010 - Volume 34 - Issue 11 - p 1599-1607
doi: 10.1097/PAS.0b013e3181f7ce2c
Original Articles

Poorly differentiated type synovial sarcoma (PDSS) is a variant of synovial sarcoma characterized by predominantly round or short-spindled cell morphology. Although accumulating evidence from clinicopathologic studies suggests a strong association between this variant of synovial sarcoma and poor prognosis, little has been reported on the molecular basis of PDSS. To gain insights into the mechanism(s) that underlie the emergence of PDSS, we analyzed the gene expression profiles of 34 synovial sarcoma clinical samples, including 5 cases of PDSS, using an oligonucleotide microarray. In an unsupervised analysis, the 34 samples fell into 3 groups that correlate closely with histologic subtypes: monophasic, biphasic, and poorly differentiated types. PDSS was characterized by down-regulation of genes associated with neuronal and skeletal development and cell adhesion. Moreover, upregulation of genes on a specific chromosomal locus, 8q21.11, was identified. This locus-specific transcriptional activation in PDSS was confirmed by reverse transcriptase-PCR analysis of 9 additional synovial sarcoma samples. Our results indicate that PDSS tumors constitute a distinct group based on expression profiles.

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*Genetics Division, National Cancer Center Research Institute

Department of Orthopaedic Surgery, Keio University School of Medicine

§Orthopedic Division, National Cancer Center Hospital, Tokyo

Department of Surgical Pathology, Sapporo Medical University School of Medicine, Sapporo

Niigata University Graduate School of Medical and Dental Sciences, Niigata

Institute for Frontier Medical Sciences

Department of Orthopaedic Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan

This work was supported by the program for promotion of Fundamental Studies in Health Sciences of the National Institute of Biomedical Innovation (NiBio) and by Grants-in-Aid from the Ministry of Education, Culture, Sports, Science and Technology, Japan.

Correspondence: Hitoshi Ichikawa, PhD, Genetics Division, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045, Japan (e-mail:

Supplemental Digital Content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website,

There is no conflict of interest to declare.

© 2010 Lippincott Williams & Wilkins, Inc.