Sarcomas

Sarcomas affect thousands of people yearly, developing in the body's connective tissues like muscles, bones, fat, and blood vessels. While they represent only 1% of all adult cancers, these rare tumours can occur at any age and in any part of the body. This comprehensive guide explores sarcomas cancers, from their various types and symptoms to treatment options and prevention strategies. 

What are Sarcomas?

A sarcoma is a rare type of cancer that develops in the body's connective tissues. Unlike more common cancers, sarcomas are unique because they form in the tissues that connect or support other body parts. These malignant tumours can develop in various locations, making them particularly complex to identify and treat.

These cancers can affect several types of tissues, including:

• Muscles and tendons
• Bones and joints
• Fat tissue
• Blood vessels
• Nerves
• Deep skin tissues
• Fibrous tissues

Types of Sarcomas

These rare tumours are broadly classified into two main categories:

1. Soft Tissue Sarcomas: Soft tissue sarcomas can develop in multiple locations throughout the body, including:

• Blood vessels (Angiosarcoma)
• Digestive tract (Gastrointestinal stromal tumor)
• Fat cells (Liposarcoma)
• Smooth muscle (Leiomyosarcoma)
• Skeletal muscle (Rhabdomyosarcoma)
• Nerve sheaths (Malignant peripheral nerve sheath tumors)
• Connective tissue (Fibrosarcoma)

Approximately one-third to one-half of all soft tissue sarcomas occur in the lower extremities. Retroperitoneal sarcomas comprise 15% to 20% of all soft tissue sarcomas, visceral sarcomas comprise 24% and head and neck sarcomas account for approximately 4%.

2. Bone Sarcomas: Bone sarcomas, though less common, include several distinct types, such as osteosarcoma, which primarily affects the large bones of the arm or leg & chondrosarcoma, which forms in cartilage. These tumours present unique diagnostic challenges due to their rarity and considerable morphological heterogeneity.

Symptoms of Sarcomas

The following are some common sarcomas symptoms:

• A new lump that may or may not be painful
• Pain in arms, legs, or abdomen
• Limited range of motion in joints
• Unexplained weight loss
• Back pain or difficulty walking
• Breathing problems when tumours affect the chest area

Sarcomas Causes

The development of sarcomas begins at the cellular level, where changes in DNA cause immature bone or soft tissue cells to grow uncontrollably. 

• Genetic Factors: Several inherited conditions can increase sarcoma risk. These genetic predisposition syndromes include:
  • Li-Fraumeni syndrome, affecting the TP53 gene
  • Neurofibromatosis (von Recklinghausen disease)
  • Retinoblastoma, linked to the RB1 gene
  • Werner syndrome
  • Gardner syndrome
• Environmental and Medical Factors: External factors can also contribute to sarcoma development. 
  • Exposure to certain chemicals, particularly vinyl chloride and arsenic
• Other Risk Factors: 
  • Age and Gender: For example, osteosarcoma often occurs in children and young adults during periods of rapid growth. 
  • Location: Chronic lymphedema, or long-term swelling in the arms or legs, 
  • Radiation Therapy: Cancer patients who receive radiation treatment for the disease are at higher risk of developing sarcomas in the future.
  • Lymphedema: Chronic swelling of the lymphatic system may increase the risk of a type of sarcoma called angiosarcoma.

Complications of Sarcomas

Untreated sarcomas can lead to serious complications that affect multiple body systems. These include:

• Metastasis: The most significant concern is metastasis, where cancer cells move to other organs through the blood or lymphatic system. 
• Neurological Complications: These complications can manifest in various ways:
  • Central nervous system involvement
  • Peripheral nerve system damage
  • Spinal cord compression
  • Elevated intracranial pressure
  • Brain and nerve function impairment
• Functional Complications: Patients may experience difficulty breathing when tumours press against respiratory structures and movement limitations when tumours affect joints or muscles. This pressure can also cause severe pain and disrupt normal organ function in affected areas.

Diagnosis

• Physical Assessment: Doctors begin with a thorough physical examination and detailed medical history assessment when patients present with suspicious symptoms. Doctors may assess lumps, swelling, or pain in the affected area.
• Advanced Imaging Evaluations: Medical teams typically employ several imaging techniques:
  • X-rays to capture initial bone and soft tissue images
  • Computed tomography (CT) scans for detailed cross-sectional views
  • Magnetic resonance imaging (MRI) for superior soft tissue evaluation
  • Bone scans to identify bone disorders
  • PET scans to identify areas of high glucose activity
  • Ultrasound for initial assessment of superficial lumps
• Biopsy: The definitive diagnosis comes through a biopsy procedure, where specialists remove tissue samples for laboratory analysis. This critical step helps determine the exact type of sarcoma and guides treatment decisions. The biopsy technique is crucial, as improper procedures can complicate future treatment options.

Sarcomas Treatment

The treatment depends on various factors, including the type of sarcoma, its location, and whether the cancer has spread to other body parts. Modern sarcoma treatment typically involves a combination of therapies:

• Surgical Intervention: Surgery remains the first treatment modality for most sarcoma cases. Surgeons aim to remove the entire tumour along with a margin of healthy tissue, typically 1 to 2 cm, around the cancer. For limb sarcomas, doctors now prefer limb-sparing surgery over amputation, successfully preserving functionality in most cases. Doctors may use alternative approaches such as targeted therapy or immunotherapy for cases where surgery isn't possible. 
• Radiation Therapy: Uses high-energy beams to eradicate cancer cells
• Chemotherapy: Drug treatment targeting cancer cells
• Targeted Therapy: Attacks specific weaknesses in cancer cells
• Immunotherapy: Enhances the body's immune response
• Ablation Therapy: Destroys cancer cells using heat or cold

Before surgery, some patients receive neoadjuvant therapy (pre-surgical treatment) to shrink the tumour and make it easier to remove. After surgery, doctors may recommend adjuvant therapy to eradicate any remaining cancer cells & reduce the risk of recurrence.

When to See a Doctor

Individuals should go for medical attention when they notice:

• Any lump larger than 5 centimetres (about golf ball size)
• A mass that is increasing or appears deep within the tissue
• Persistent pain that doesn't improve with rest or over-the-counter medications
• Any recurring lump after the previous removal

Prevention

Though complete prevention isn't possible, individuals can take steps to minimise their exposure to known risk factors. Controllable risk factors include:

• Limiting exposure to industrial chemicals, particularly vinyl chloride and arsenic
• Minimising unnecessary radiation exposure
• Following safety guidelines in high-risk industries
• Using appropriate protective equipment in occupational settings

Regular medical consultations become crucial for individuals with genetic predisposition syndromes like Li-Fraumeni syndrome, retinoblastoma, or neurofibromatosis. 

Early detection remains a vital component of prevention strategy. While no test can identify sarcoma cells at their earliest stages, prompt attention to unusual symptoms can lead to earlier diagnosis. Doctors emphasise the importance of evaluating new or growing lumps, mainly if they cause pain or increase in size.

Conclusion

Sarcomas remain complex cancers that require careful attention and specialised medical care. Medical science has made significant advances in understanding these rare tumours, with modern treatments offering hope to thousands of patients each year.

Knowledge about sarcomas helps people recognise warning signs and seek medical help quickly. The combination of surgery, radiation therapy, and newer treatment options gives patients better chances of recovery than ever before. Regular check-ups and prompt attention to unusual symptoms play vital roles in successful treatment outcomes.

FAQs

1. Can a sarcoma be cured?

The curability of sarcomas depends largely on early detection and proper treatment. The 5-year survival rate is approximately 65% for soft tissue sarcoma. However, this rate varies significantly based on the stage and location of the cancer.

2. Do sarcomas hurt?

Pain levels vary among patients with sarcoma. Studies show that about 19.7% of children with newly diagnosed sarcoma experience pain, with 46% reporting moderate pain and 37.8% reporting severe pain. The pain often increases when the tumour grows, putting pressure on surrounding tissues.

3. What is the root cause of sarcoma?

Sarcomas develop due to DNA mutations that affect cell growth and division. These mutations can interfere with oncogenes and tumour suppressors, causing uncontrolled cell growth and tumour formation.

4. Who is most at risk of sarcoma?

Several factors increase sarcoma risk:

• Children and young adults during periods of rapid growth
• People with previous radiation therapy exposure
• Individuals with chronic lymphedema
• Those exposed to certain chemicals like vinyl chloride and arsenic

5. Is sarcoma genetic?

While most sarcomas occur sporadically, some cases have a genetic component. Several inherited cancer predisposition syndromes can increase sarcoma risk, including Li-Fraumeni syndrome, retinoblastoma, and neurofibromatosis.

6. How do you detect sarcoma?

Detection typically involves multiple steps, including physical examination, imaging tests (X-rays, MRI, CT scans), and ultimately a biopsy for definitive diagnosis. Early detection can lead to better treatment outcomes.

7. Where can sarcoma start?

Sarcomas can develop anywhere in the body's connective tissues, including muscles, bones, fat, blood vessels, nerves, and deep skin tissues. They most commonly appear in the arms, legs, chest, or abdomen.

Dr. Amit Kumar Jaiswal

MBBS, MS, DNB
Ganga CARE Hospital Limited, Nagpur

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