A New Biomaker for Osteosarcoma

A new biomarker for osteosarcoma has been identified by a group of West Australian researchers – including a lab supported by Sock it to Sarcoma!.

An article published in Experimental Biology and Medicine (Volume 245, Issue 16, October, 2020) ( identifies a new biomarker for osteosarcoma. The study, led by Dr. Emel Rothzerg in the School of Biomedical Sciences at the University of The University of Western Australia, in Perth (Australia) and the Perron Institute for Neurological and Translational Science in Nedlands (Australia)(supported by Sock it to Sarcoma!), reports an association between osteosarcoma and abnormal alternative splicing of the leptin receptor overlapping transcript (LEPROT). 

Osteosarcoma (OS) is a primary malignant bone tumor with a high incidence rate in children and adolescents. Although combination therapy with surgery and chemotherapy has improved outcomes for patients, this treatment regimen is only effective in 90% of patients. The limiting factor in improving outcomes for patients with OS is a lack of understanding of the molecular mechanisms of the disease. A better understanding of the disease process would permit earlier diagnosis and development of more effective therapies, both of which would improve patient health.

In this study, Rothzerg and colleagues examined RNA splicing in paired normal–tumor biopsies from osteosarcoma (OS) patients. Alternative splicing increases proteomic diversity in cells and abnormal alternative splicing has been associated with numerous cancers. Whole-transcriptome analysis identified 26 differentially expressed transcript variants of the LEPROT gene. Some of the transcripts were overexpressed in normal cells, whereas others were overexpressed in tumor cells. These findings provide strong evidence that aberrant alternative splicing events in the LEPROT gene may be a risk factor for OS. In addition, decreased LEPROT expression may contribute to the initiation and progression of OS. Dr. Rothzerg said “the LEPROT gene can be considered a biomarker and potential therapeutic target for OS”.

Dr. Steven R. Goodman, Editor-in-Chief of Experimental Biology & Medicine, said “Dr. Rothzerg and colleagues have demonstrated that alternate spliced forms of LEPROT can serve as a biomarker for osteosarcoma and an association between downregulation of LEPROT expression and bone tumorigenesis. This research should lead to future studies on whether LEPROT variant expression is a target for osteosarcoma therapeutics.”

Experimental Biology and Medicine is a global journal dedicated to the publication of multidisciplinary and interdisciplinary research in the biomedical sciences. The journal was first established in 1903. Experimental Biology and Medicine is the journal of the Society of Experimental Biology and Medicine.