Translocation in bone and soft tissue sarcomas: a comprehensive epidemiological investigation

K Kawaguchi; M Endo; E Shimada; K Kohashi; T Hirose; A Nabeshima; T Fujiwara; A Kawai; Y Oda; Y Nakashima

doi:10.1016/j.esmoop.2024.103726

Translocation in bone and soft tissue sarcomas: a comprehensive epidemiological investigation

ESMO Open. 2024 Sep 20;9(10):103726. doi: 10.1016/j.esmoop.2024.103726. Online ahead of print.

Authors

K Kawaguchi¹, M Endo², E Shimada³, K Kohashi⁴, T Hirose⁵, A Nabeshima⁶, T Fujiwara⁶, A Kawai⁷, Y Oda⁸, Y Nakashima⁶

Affiliations

¹ Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
² Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address: endo.m.a40@m.kyushu-u.ac.jp.
³ Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Orthopaedic Surgery, Duke University, Durham, USA.
⁴ Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Pathology, Graduate School of Medicine, Osaka Metropolitan University, Osaka, Japan.
⁵ Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, USA.
⁶ Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
⁷ Division of Musculoskeletal Oncology and Rehabilitation, National Cancer Center Hospital, Tokyo, Japan.
⁸ Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

PMID: 39305544
DOI: 10.1016/j.esmoop.2024.103726

Abstract

Background: Limited epidemiological research has focused on translocations in soft tissue sarcomas, with no studies on bone sarcomas. This study aimed to clarify the epidemiology, prognosis, and genetic information of translocation-related sarcoma (TRS) and non-TRS patients.

Materials and methods: This retrospective cohort study used data from the Bone and Soft Tissue Tumor Registry in Japan (BSTTRJ) (2001-2019), the Kyushu University Hospital (KUH) repository (2001-2021), and a publicly available online dataset (MSK). The patients were categorized into TRS and non-TRS groups, and epidemiological, prognostic, and mutational diversity were compared.

Results: This study included 25 383 participants, of whom 4864 (19.2%) were TRS and 20 519 (80.8%) were non-TRS patients. TRS patients had significantly younger onset ages (median: 43 years, interquartile range: 29-59 years) than non-TRS patients (median: 63 years, interquartile range: 46-73 years). In the MSK cohort, microsatellite instability and tumor mutation burden scores in non-TRS were higher than in TRS, although they were rather low compared with the pan-cancer analysis. In the BSTTRJ cohort, survival analyses with the propensity score matching revealed that patients with TRS had better overall [hazard ratio (HR): 0.71, 95% confidence interval (CI) 0.63-0.81], metastasis-free (HR: 0.75, 95% CI 0.67-0.84), and recurrence-free (HR: 0.47, 95% CI 0.39-0.57) survival.

Conclusions: This study highlights differences in the epidemiology and genetic rearrangements of sarcoma.

Keywords: bone sarcoma; epidemiology; sarcoma; soft tissue sarcoma; translocation-related sarcoma.