尊龙凯时 - 人生就是搏!

A sarcoma or bone cancer diagnosis can upend lives in an instant, often striking children and young adults unexpectedly. Because these rare cancers are frequently missed early, delayed diagnosis limits treatment options and survival. Today, genetic testing is changing this reality, enabling earlier, more accurate detection and better outcomes.

July is more than the height of summer. It is the moment each year when patients, families, clinicians and researchers train a collective spotlight on sarcoma and primary bone cancers. Dedicating an entire Sarcoma Awareness Month allows the global community to show the world that these rare tumors demand both urgency and hope. The 2025 theme, “Know. Act. Advocate”, captures a simple equation: the earlier a sarcoma is suspected, diagnosed and treated, the better a patient’s odds of long-term survival.

Diagnostic Complexity due to Diversity

Sarcoma is a type of rare cancer that starts in connective tissues like bone, muscle, fat, or blood vessels, and can occur anywhere in the body. Although these tumors account for just 1% of adult cancers, they have a severe impact on young people, with nearly 17,000 new cases, 7,000 deaths in the US in 2023 and similar patterns worldwide. Primary bone cancers follow a comparable pattern, remaining rare but responsible for thousands of deaths each year and rising mortality in some regions.

Courtesy of Novartis. Download full infographic here.

Pathologists now recognize over 70 distinct subtypes of soft-tissue and bone sarcomas, each with unique histologic and molecular features. One of these is Osteosarcoma. It peaks around puberty, with global incidence ranging from 3-5 per million in males and 2-4 per million in females under the age of twenty-four. Ewing sarcoma is a childhood bone tumor. If doctors find it before it spreads, the five-year survival rate is high. But once it spreads to other parts of the body, the survival rate drops sharply.

Advances in the 2020 WHO Classification of Tumors of Soft Tissue and Bone have refined diagnostic categories, moved Ewing sarcoma into a separate molecular chapter, and highlighted new fusion-driven entities.

For patients, heterogeneity translates into vastly different prognoses and treatment roadmaps. The classification provide guidance to precision medicine for early detection.  Patient outcomes are far better when these cancers are found before they spread.

NIH Key Statistics for Sarcoma and Bone Cancer: Prevalence, Survival Rates, and Disease Burden

Early Detection and the Clinician’s Window of Opportunity

Timely diagnosis of sarcoma remains a major challenge, with studies showing that patients often experience months of symptoms and multiple doctor visits before receiving a confirmed diagnosis.

This delay can have serious consequences, as survival rates are significantly higher when sarcomas are detected early and treated before they spread. Early referral to specialized sarcoma centers mitigates that risk; a French nationwide network research showed measurable survival improvement after centralizing care pathways.

Dr Breelyn Wilky, Director of Sarcoma Medical Oncology at the University of Colorado Cancer Center, summarized the situation succinctly: “Patients are often their healthiest at that first presentation. If we don’t see them early, they miss the window for potentially curative trials and limb-sparing surgery”.

Her call resonates with this year’s emphasis on empowering front-line professionals to recognize red-flag signs: a deep-tissue mass larger than a golf ball, persistent bone pain at night, or a lump that grows rather than shrinks.

Global data show a cautiously optimistic picture for soft-tissue sarcomas. Age-standardized incidence rates are falling slightly, and mortality is declining in many low-SDI regions. However, high-SDI areas have seen a rise in new cases.

Bone cancers present a more uneven trend. Mortality is stable or declining in Western Europe and North America, but deaths are rising in Central Asia and parts of East Asia. This highlights gaps in early detection and specialized treatment access.

Genomics for Accurate Diagnosis

Genetic testing has transformed sarcoma care. Statistics reveal that up to 20% of cases may be linked to inherited genetic changes and nearly half of patients have at least one clinically relevant tumor mutation. These insights not only clarify diagnosis but also open the door to more precise, personalized treatment.

Recent advances in genomics, like the SENTIS™ Cancer+ Discovery Panel, now allow for comprehensive analysis of hundreds of cancer-related genes. For sarcoma-suspected patients, these capabilities support differential diagnosis among spindle-cell lesions and help clinicians make more informed treatment decisions.

The panel’s high sequencing depth and dual-sample flexibility mean genomic analysis is possible even when surgical tissue is limited. While genomic panels do not replace histopathology, they provide valuable insights that can help guide targeted therapies or clinical trial enrollment for specific sarcoma subtypes.

Download SENTIS™ Cancer+ Discovery Panel product sheet here

Closing the diagnostic gap in sarcoma and bone cancers starts with awareness, but it must end with action. Genetic testing offers a powerful tool to help clinicians catch these rare tumors earlier, tailor treatments more precisely, and ultimately improve survival odds.

When healthcare professionals recognize warning signs early and apply the full power of genomic technology, lives can be saved. By turning knowledge into timely diagnosis and action, we move closer to a future where fewer families are caught off guard—and more patients get the chance to survive and thrive.

About SENTIS™ Cancer+Discovery Testing:

BGI Genomics SENTIS™ Cancer+Discovery provides clinicians with one of the market’s most comprehensive and accurate Next Generation Sequencing (NGS) based testing solution for the identification of clinically actionable mutations and the discovery of novel variants with important functions in cancer. Supporting both tissue sample and liquid biopsy, the panel offers whole exon coverage of 688 cancer-related genes and interrogates the most common types of alterations, including SNVs, Indels, CNVs and fusions in solid tumors.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.