title: TERTpromoter mutations are rare in bone and soft tissue sarcomas of Japanese patients.
abstract: Recurrent hot-spot mutations in the telomerase reverse transcriptase (TERT) promoter have been reported in various types of tumor. In several tumor types,TERTpromoter mutations are associated with poor clinical outcomes.TERTpromoter mutations are reported to be rare in soft tissue tumors, with the exception of myxoid liposarcoma (MLS). Our previous study reported thatTERTpromoter mutations occurred in a subset of solitary fibrous tumors (SFTs) and were associated with adverse clinical outcomes in Japanese individuals. The site-specific frequency (e.g. central nervous or soft tissue origin) ofTERTpromoter mutations in our SFT cases appeared to be different from previously reported values in a European population. These findings prompted the present study to elucidate the potential role of ethnic background in the different frequencies ofTERTpromoter mutations in bone and soft tissue sarcomas. In the present study,TERTpromoter mutations were examined in 180 cases of bone and soft tissue sarcomas.TERTpromoter region mutations were identified in 10 cases [5 SFTs, 3 MLSs, 1 undifferentiated pleomorphic sarcoma (UPS) and 1 malignant granular cell tumor]. All mutations were C228T. The frequencies ofTERTpromoter mutation in MLS and UPS were 23.1 (3/13) and 5% (1/20), respectively. Only 1/5 patients withTERT-mutated tumors experienced local recurrence or distant metastasis. The present study revealed the first case of a malignant granular cell tumor with aTERTpromoter mutation and revealed that the frequency ofTERTpromoter mutations in MLSs of Japanese patients is lower compared with that reported in German patients, providing evidence of a possible ethnic difference in the frequency ofTERTpromoter mutations.
authors: Department of Human Pathology, Juntendo University School of Medicine, Tokyo 113-8421, Japan.
authors: Tsuyoshi
authors: T
authors: Saito
authors: Department of Human Pathology, Juntendo University School of Medicine, Tokyo 113-8421, Japan; Department of Orthopaedic Surgery, Juntendo University School of Medicine, Tokyo 113-8421, Japan.
authors: Keisuke
authors: K
authors: Akaike
authors: Department of Human Pathology, Juntendo University School of Medicine, Tokyo 113-8421, Japan.
authors: Aiko
authors: A
authors: Kurisaki-Arakawa
authors: Department of Human Pathology, Juntendo University School of Medicine, Tokyo 113-8421, Japan; Department of Orthopaedic Surgery, Juntendo University School of Medicine, Tokyo 113-8421, Japan.
authors: Midori
authors: M
authors: Toda-Ishii
authors: Department of Human Pathology, Juntendo University School of Medicine, Tokyo 113-8421, Japan; Department of Orthopaedic Surgery, Juntendo University School of Medicine, Tokyo 113-8421, Japan.
authors: Kenta
authors: K
authors: Mukaihara
authors: Department of Orthopaedic Surgery, Juntendo University School of Medicine, Tokyo 113-8421, Japan.
authors: Yoshiyuki
authors: Y
authors: Suehara
authors: Department of Orthopaedic Surgery, Juntendo University School of Medicine, Tokyo 113-8421, Japan.
authors: Tatsuya
authors: T
authors: Takagi
authors: Department of Orthopaedic Surgery, Juntendo University School of Medicine, Tokyo 113-8421, Japan.
authors: Kazuo
authors: K
authors: Kaneko
authors: Department of Human Pathology, Juntendo University School of Medicine, Tokyo 113-8421, Japan.
authors: Takashi
authors: T
authors: Yao
keywords: TERT; bone and soft tissue sarcoma; mutation