Sarcoma Awareness Month: Understanding a Rare and Complex Group of Cancers
17 July 2026
July is Sarcoma Awareness Month, giving us an opportunity to raise awareness of one of the rarest and most complex groups of cancers.
Although sarcomas account for approximately 1% of adult cancers [1], they represent around 20% of childhood solid tumours [2]. Their rarity and diversity make them particularly challenging to diagnose, classify and treat, often requiring specialist expertise and multidisciplinary care.
What is a sarcoma?
Unlike more common cancers that develop in specific organs such as the breast, lung or bowel, sarcomas arise from the body's connective tissues. They can develop in bone, muscle, fat, cartilage, blood vessels, nerves and other soft tissues, and may occur almost anywhere in the body. There are two main types of sarcoma – soft tissue sarcoma and bone sarcoma, also known as primary bone cancer. And within these two types, there are around 100 recognised histological subtypes [3].
The causes of most sarcomas are still poorly understood. For soft tissue sarcoma, the risk increases with age, although for some subtypes, younger people appear to have a higher risk [4]. For bone sarcoma, recognised risk factors include age, genetic conditions (such as Li-Fraumeni syndrome), or exposure to ionising radiation due to radiotherapy treatment for other cancers [5].
Because there are so many different sarcoma subtypes, each with distinct biological and clinical characteristics, no two patients are exactly alike. This complexity makes accurate diagnosis essential, as treatment strategies can differ significantly depending on the subtype.
Why is diagnosis so challenging?
Many patients initially experience vague or non-specific symptoms, such as a painless lump, swelling or persistent bone pain [6]. As a result, diagnosis can sometimes be delayed until specialist investigations are performed.
Even after a biopsy, distinguishing between different sarcoma subtypes using conventional pathology alone can be difficult. Increasingly, diagnosis relies on combining histopathology with molecular testing to provide a more complete understanding of the tumour.
The role of molecular diagnostic technologies
Molecular diagnostics has transformed our understanding of sarcoma biology, especially given that the tumours are rare and morphologically diverse, often showing overlapping features under a microscope.
Many sarcomas are defined by distinct genetic alterations. Among all WHO-defined soft tissue and bone sarcomas, recurrent gene fusions were detected in more than 40 entities [7]. Gene fusions occur when two previously independent genes are joined together, often due to chromosomal rearrangements like translocations or deletions. These fusion events often act as the biological drivers of the disease and have become important diagnostic biomarkers.
Some notable examples include EWSR1::FLI1 and EWSR1::ERG in Ewing sarcoma [8], SS18::SSX in synovial sarcoma [9], FUS::DDIT3 in myxoid liposarcoma [10] and NAB2::STAT6 in Solitary Fibrous Tumor (SFT) [11].
Identifying these genetic alterations can help clinicians establish an accurate diagnosis, distinguish between morphologically similar tumours, and in some cases identify patients who may benefit from targeted therapies or clinical trials. Next-generation sequencing (NGS) technologies now enable laboratories to investigate multiple clinically relevant genes simultaneously, including the identification of known and novel gene fusions. As our understanding of sarcoma biology grows, these technologies are helping researchers and clinicians improve tumour classification and uncover new opportunities for personalised treatment.
Commenting on the importance of sarcoma research, Professor Paul Huang, Leader of the Molecular and Systems Oncology Group and Deputy Director of the Joint Royal Marsden–ICR Sarcoma Research Centre, said: “As a researcher working in sarcoma, I am continually inspired by the determination of patients and families affected by these rare cancers. Sarcomas comprise more than 100 distinct diseases, each with unique biological challenges, making research both difficult and essential. Our team is applying cutting-edge molecular technologies to better understand how these cancers develop and respond to treatment. Through national and international collaboration, we hope to accelerate the development of more effective therapies and improve outcomes for patients with sarcoma."
Supporting research into rare cancers
Supporting research and improving access to advanced molecular diagnostics has an important role to play in improving outcomes for patients affected by sarcoma. This Sarcoma Awareness Month, we recognise the dedication of clinicians, researchers, patients and advocacy organisations working together to improve the diagnosis, treatment and understanding of these rare and complex diseases.
At GeneFirst, our ATOM-Seq® technology has been developed to support researchers and clinical laboratories investigating gene fusions and other genomic alterations that contribute to cancer development. By enabling the detection of both known and novel fusion events, we can help support research into rare cancers and the continued development of precision medicine. For anyone interested in learning more about ATOM-Seq capture and enrichment for gene fusions, please visit our website or contact one of our team at info@genefirst.com.
1. Zhou J, Xu S, Long Y, He R, Cai J, Ding N, Su Y. Global burden of soft tissue sarcomas in 204 countries and territories from 1990 to 2021: data from the global burden of disease study 2021. BMC Public Health. 2025 Apr 24;25(1):1519.
2. Burningham Z, Hashibe M, Spector L, Schiffman JD. The epidemiology of sarcoma. Clin Sarcoma Res 2012;2:14.
3. Fletcher CD, Bridge JA, Hogendoorn PC, Mertens F. WHO Classification of Tumours of Soft Tissue and Bone. 4th ed. Geneva: World Health Organization; 2013.
4. https://www.cancerresearchuk.org/about-cancer/soft-tissue-sarcoma/risks-causes
6. https://sarcoma.org.uk/about-sarcoma/diagnosing-sarcoma/
7. Mertens F., Antonescu C.R., Mitelman F. Gene fusions in soft tissue tumors: Recurrent and overlapping pathogenetic themes. Genes Chromosomes Cancer. 2016;55:291–310.
8. Mariño-Enríquez A, Bovée JV. Molecular Pathogenesis and Diagnostic, Prognostic and Predictive Molecular Markers in Sarcoma. Surg Pathol Clin. 2016 Sep;9(3):457-73.
9. Kadoch C, Crabtree GR. Reversible disruption of mSWI/SNF (BAF) complexes by the SS18-SSX oncogenic fusion in synovial sarcoma. Cell. 2013;153(1):71–85.
10. Baranov E., Black M.A., Fletcher C.D.M., Charville G.W., Hornick J.L. Nuclear expression of DDIT3 distinguishes high-grade myxoid liposarcoma from other round cell sarcomas. Mod. Pathol. 2021;34:1367–1372.
11. Doyle L.A., Vivero M., Fletcher C.D., Mertens F., Hornick J.L. Nuclear expression of STAT6 distinguishes solitary fibrous tumor from histologic mimics. Mod. Pathol. 2014;27:390–395.