30-07-2025
Orthopaedic oncologist surgeon stresses recognising early signs of bone cancer: What you need to know
A rare type of cancer that begins in the bones, bone cancer, or bone neoplasm, is known to be fatal, with a five-year relative survival rate of 68.2 percent. According to the American Cancer Society's estimates for primary cancer of the bones and joints in 2025, about 3,770 new cases will be diagnosed (2,150 in males and 1,620 in females) and about 2,190 deaths (1,240 in males and 950 in females). This includes cancers in both children and adults. Bone cancer is not always passed from one generation to another, but some are inherited disorders which can increase the risk. (Freepik)
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This makes understanding the genetic factors that contribute to its development crucial for early detection and treatment. According to Dr Haresh Manglani, orthopaedic onco-surgeon, HCG ICS Khubchandani Cancer Centre, Mumbai (Colaba), research has shown that certain genetic mutations and inherited syndromes can increase the risk of developing bone cancer.
The genetic factor in bone cancer
In an interview with HT Lifestyle, Dr Manglani stated that by exploring the genetic link to bone cancer, we can better understand the underlying causes of the disease and identify the potential warning signs.
'Bone cancer is not always passed from one generation to another, but some are inherited disorders which can increase the risk. These genetic traits do not directly cause cancer, but might set the stage for abnormal bone cell changes,' the orthopaedic oncologist surgeon explained.
Environmental factors—such as prior radiation therapy in childhood—can interact with underlying genetic vulnerabilities and increase the risk of bone cancer. (Shutterstock)
He further adds, 'For instance, Li-Fraumeni syndrome, a rare condition caused by a mutation in the TP53 gene, significantly increases the risk of various cancers, osteosarcoma being one of them. Similarly, hereditary Retinoblastoma, a condition known for affecting the eyes of young children, is linked to a higher risk of bone tumours. Other genetic disorders, such as Rothmund-Thomson syndrome or Multiple Exostoses, may also predispose children or adolescents to bone cancers during growth spurts.'
Therefore, early screening and an awareness of these symptoms can be helpful to catch them early:
1. When genes meet the environment
According to Dr Manglani, genetic predisposition does not work in isolation. He explains, 'Environmental factors—such as prior radiation therapy in childhood—can interact with underlying genetic vulnerabilities and increase the risk. In such cases, the bones may carry the imprint of past exposure, subtly altering cellular structures, over time.'
This is also the reason why children and teenagers undergoing treatment for other conditions are monitored closely, he stressed. The aim is to catch any abnormalities early—before they evolve into more aggressive manifestations.
2. Subtle signs, significant impact
Second, most people expect serious illness to arrive with dramatic symptoms. But bone cancer doesn't always work that way. Dr Mangali points out: 'A persistent ache in the leg or arm, a pain that gets worse at night, or a limp that lingers longer than expected—these are the signs that often go unnoticed. In genetically predisposed individuals, these minor changes may indicate the need for investigation.'
'Swelling close to joints, a noticeable lump, or even fractures that don't match the injury can signal trouble. As the disease progresses, weight loss, tiredness, or mild fever can appear and often be dismissed. However, in families with a cancer history, such red flags deserve urgent attention,' he added.
The role of genetics in early detection of bone cancer
'Diagnosing bone cancers, such as osteosarcoma or Ewing's sarcoma, early can make a big difference. Treatment often combines chemo and surgery, with many approaches allowing the limb to be saved. A timely diagnosis can shift the entire outlook, positively,' Dr Manglani highlighted.
Identifying high-risk individuals:
'Genetic testing can reveal inherited mutations linked to an increased risk of bone cancer. This allows for closer monitoring and early screening of those at higher risk,' Dr Manglani said.
Personalised treatment plans:
'By analysing the genetic profile of a tumour, clinicians can develop tailored treatment strategies. This precision approach often results in more effective and targeted therapies,' he stated.
Facilitating early intervention:
Genetic insights can enable the detection of bone cancer in its early stages, significantly improving the chances of successful treatment, he stressed.
Listen to what the body—and your genes—are saying
'A child who starts avoiding sports, an adult who wakes up with unexplained leg pain, or a teenager with a recurring limp—these are all clues that deserve attention, particularly when there's a known genetic risk. Often, the first alert comes not from a test or scan, but from responding to the body's persuasive signals,' Dr Manglani said.
Lastly, bone cancer may be rare, but its impact is profound. By recognising the early signs and understanding how genetics plays a role, families and doctors can act early.
Note to readers: This article is for informational purposes only and not a substitute for professional medical advice. Always seek the advice of your doctor with any questions about a medical condition.
