Sacrococcygeal Chordoma

Sacrococcygeal Chordoma: A Comprehensive Guide on Symptoms, Causes, Types, Diagnosis, and Treatments

Sacrococcygeal chordoma is a rare type of bone cancer that arises from remnants of the notochord, an embryonic structure vital in early development. This slow-growing but locally aggressive tumor predominantly affects the sacrococcygeal region—the base of the spine near the tailbone. Despite its rarity, sacrococcygeal chordoma poses significant challenges in diagnosis and treatment due to its location and tendency to invade surrounding tissues.

This comprehensive article explores the symptoms, causes, types, diagnosis, and treatments of sacrococcygeal chordoma, providing valuable insights for patients, caregivers, and healthcare professionals.

What Is Sacrococcygeal Chordoma?

Chordomas are malignant tumors derived from remnants of the notochord, the embryonic precursor to the vertebral column. Although chordomas can develop anywhere along the spine, they most commonly occur in three regions:

The sacrococcygeal region (near the tailbone) — approximately 50-60% of cases.
The clivus (base of the skull).
The mobile spine (cervical, thoracic, or lumbar vertebrae).

Sacrococcygeal chordomas grow slowly but are locally invasive, often eroding bone and nearby soft tissue. They rarely metastasize (spread to distant organs), but their location near critical nerves and pelvic structures can cause debilitating symptoms and complicate treatment.

Symptoms of Sacrococcygeal Chordoma

Symptoms often develop gradually due to the tumor’s slow growth. Early-stage chordomas may be asymptomatic or cause subtle signs, making early detection challenging. As the tumor enlarges, symptoms become more apparent and can significantly impact quality of life.

Common Symptoms Include:

Chronic Low Back or Sacral Pain:
Persistent pain around the tailbone or lower back is the most common initial symptom. The pain may be dull, aching, or sharp and tends to worsen over time.
Pain Radiating to the Legs:
Due to nerve root involvement, patients may experience pain radiating to the buttocks, thighs, or legs, mimicking sciatica.
Palpable Mass:
In some cases, a lump or swelling can be felt in the lower back or buttock region.
Neurological Symptoms:
- Weakness or numbness in the lower limbs.
- Loss of bladder or bowel control (cauda equina syndrome) in advanced cases.
- Sexual dysfunction.
Constipation or Difficulties with Defecation:
Tumor pressure on rectal structures can cause bowel movement difficulties.
Postural Changes or Gait Disturbances:
Large tumors can alter posture or walking patterns.

When to See a Doctor:

If you experience persistent sacral pain lasting more than a few weeks, especially with neurological symptoms or a palpable mass, seek medical evaluation promptly.

Causes and Risk Factors of Sacrococcygeal Chordoma

Causes:

Sacrococcygeal chordoma arises from remnants of the notochord cells, which persist abnormally after embryonic development. The exact molecular mechanisms behind this malignant transformation remain unclear but involve genetic mutations and alterations in cellular pathways.

Unlike many cancers, chordomas are not linked to lifestyle factors such as smoking or diet.

Genetic and Molecular Insights:

Mutations or overexpression in the brachyury gene (T gene) have been strongly implicated. Brachyury is essential for notochord development, and its abnormal activity drives chordoma cell proliferation.
Other genetic changes affecting cell cycle regulation and apoptosis (programmed cell death) may contribute.

Risk Factors:

Age: Sacrococcygeal chordomas typically occur in adults aged 40–70 years.
Sex: Males are slightly more affected than females.
Congenital predisposition: Rare cases may be associated with congenital anomalies involving the spine.
Family history: No clear hereditary pattern, but some familial cases linked to brachyury gene mutations have been reported.

Types of Chordomas

Chordomas are classified based on their histological (microscopic) appearance and behavior. Understanding these types helps guide prognosis and treatment.

1. Conventional (Classic) Chordoma

Most common type.
Composed of physaliphorous cells with bubbly cytoplasm.
Slow-growing but locally invasive.
Typically seen in the sacrococcygeal region.

2. Chondroid Chordoma

Has features resembling cartilage (chondroid differentiation).
Usually occurs in the skull base but can be found in sacrum.
Thought to have a slightly better prognosis than conventional chordomas.

3. Dedifferentiated Chordoma

Rare and aggressive form.
Shows high-grade sarcomatous (cancerous connective tissue) features.
Poor prognosis due to rapid growth and potential for metastasis.

Diagnosis of Sacrococcygeal Chordoma

Diagnosing sacrococcygeal chordoma requires a combination of clinical examination, imaging studies, and biopsy.

1. Medical History and Physical Exam

Detailed history focusing on symptom duration and progression.
Palpation for mass in the sacral area.
Neurological exam to check for sensory or motor deficits.

2. Imaging Studies

a. X-rays

May reveal bone destruction or a lytic lesion in the sacrum or coccyx.
Useful for initial assessment but limited detail.

b. Magnetic Resonance Imaging (MRI)

Gold standard imaging modality.
Excellent for evaluating soft tissue involvement, nerve compression, and tumor extent.
Tumors appear as lobulated masses with heterogeneous signal intensity.
Gadolinium contrast highlights tumor vascularity.

c. Computed Tomography (CT) Scan

Better for assessing bone destruction and calcifications.
Useful for surgical planning.

d. Positron Emission Tomography (PET) Scan

May help detect metastasis or recurrent disease.

3. Biopsy

Essential for definitive diagnosis.
Usually done via CT-guided needle biopsy.
Histopathology confirms chordoma by identifying characteristic physaliphorous cells.
Immunohistochemical staining positive for brachyury, cytokeratins, and S100 protein.

Treatment of Sacrococcygeal Chordoma

Treatment of sacrococcygeal chordoma is challenging due to its location, slow growth, and tendency to invade surrounding tissues. The main goals are complete tumor removal, symptom relief, and preventing recurrence.

1. Surgery

Primary treatment modality.
Wide en bloc resection with negative margins is the ideal surgical approach.
Complete removal is difficult because of proximity to pelvic nerves, blood vessels, and organs.
Surgical options range from partial sacrectomy to total sacrectomy depending on tumor size and spread.
Preoperative planning with MRI and CT is crucial.
Surgery may cause complications such as bowel/bladder dysfunction or nerve damage.

2. Radiation Therapy

Used as adjuvant (postoperative) therapy or for unresectable tumors.
Modern techniques like proton beam therapy and carbon ion therapy allow high-dose radiation while sparing normal tissues.
Helps control local tumor growth and reduce recurrence.
Conventional photon radiation is less effective due to chordoma’s radioresistance.

3. Chemotherapy

Generally, chordomas are resistant to chemotherapy.
Chemotherapy is rarely used except in dedifferentiated chordomas or clinical trials.
Targeted therapies focusing on molecular pathways are under investigation.

4. Targeted Therapy and Experimental Treatments

Drugs targeting the brachyury gene or other signaling pathways show promise.
Imatinib and other tyrosine kinase inhibitors have been trialed with mixed results.
Immunotherapy is being explored.

5. Supportive Care

Pain management with analgesics or nerve blocks.
Physical therapy to improve mobility.
Psychological support due to chronic illness impact.

Prognosis and Follow-Up

Sacrococcygeal chordomas have a high risk of local recurrence after treatment.
Metastasis occurs in approximately 20-30% of cases, often late in disease.
Five-year survival rates vary from 50% to 70%, depending on tumor size, resectability, and patient health.
Lifelong follow-up with regular MRI scans is essential to detect recurrence early.

Conclusion

Sacrococcygeal chordoma is a rare, complex tumor that requires multidisciplinary management involving surgeons, radiologists, oncologists, and rehabilitation specialists. Early recognition of symptoms, accurate diagnosis with advanced imaging, and aggressive surgical resection combined with radiation therapy offer the best chance for long-term control.

If you or a loved one experiences persistent sacral pain or neurological symptoms, prompt medical evaluation is vital. Advances in molecular research and targeted therapies hold hope for improved outcomes in the future.

Frequently Asked Questions (FAQs) About Sacrococcygeal Chordoma

What is sacrococcygeal chordoma?

Sacrococcygeal chordoma is a rare type of bone cancer that forms at the base of the spine, near the coccyx (tailbone). It develops from remnants of the embryonic notochord and is slow-growing but locally aggressive.

Is sacrococcygeal chordoma cancerous?

Yes, it is considered a malignant tumor. While it grows slowly, it can invade surrounding tissues and sometimes spread to other parts of the body if left untreated.

What are the first symptoms of sacrococcygeal chordoma?

The earliest symptoms often include dull pain in the lower back or tailbone area. As the tumor grows, it may cause leg pain, numbness, bladder issues, or constipation due to nerve and organ compression.

How is sacrococcygeal chordoma diagnosed?

Diagnosis involves MRI and CT imaging to assess the tumor’s size and location, followed by a biopsy to confirm the diagnosis under a microscope. Brachyury staining is often used to confirm chordoma cells.

What causes sacrococcygeal chordoma to form?

Chordomas originate from notochord remnants that persist abnormally after birth. The exact cause of their transformation into cancer is unknown, but genetic factors like mutations in the brachyury gene may play a role.

Is sacrococcygeal chordoma hereditary?

Most cases are not inherited. However, very rare familial cases with inherited mutations in the brachyury gene have been reported, suggesting a possible genetic predisposition.

How rare is sacrococcygeal chordoma?

Chordoma is extremely rare, with an incidence of about 1 case per million people annually. The sacrococcygeal form accounts for roughly 50% of all chordoma cases.

Can sacrococcygeal chordoma spread to other organs?

While chordomas are locally aggressive, distant metastasis is uncommon. When it does spread, it most often affects the lungs, liver, or bones in advanced stages.

What is the best treatment for sacrococcygeal chordoma?

Surgical removal with wide margins is the gold standard treatment. This is often followed by radiation therapy, especially if complete removal is not possible or if margins are positive.

Is radiation therapy effective for sacrococcygeal chordoma?

Yes, advanced radiation techniques like proton beam therapy or carbon ion therapy are effective in controlling residual tumor cells after surgery, especially since chordomas are resistant to conventional radiation.

Does sacrococcygeal chordoma require chemotherapy?

Chemotherapy is generally not effective against chordomas and is not part of standard treatment. However, it may be considered in aggressive or dedifferentiated cases or within clinical trials.

What is the survival rate for sacrococcygeal chordoma?

The 5-year survival rate is approximately 50–70%. Long-term prognosis depends on factors like tumor size, location, surgical success, and whether the cancer has spread.

Can sacrococcygeal chordoma come back after treatment?

Yes, recurrence is common even after successful surgery. Lifelong follow-up with periodic imaging is essential to monitor for tumor regrowth or spread.

Is there any way to prevent sacrococcygeal chordoma?

There are currently no known preventive measures. Since it arises from embryonic tissue, it is not linked to lifestyle or environmental factors.

What support is available for patients with sacrococcygeal chordoma?

Patients can benefit from multidisciplinary care teams, including oncologists, surgeons, physical therapists, and counselors. Support groups, both online and offline, also offer emotional and informational support.

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