Oesophagus Neoplasms
Gastroenterology (12%) Core Clinical Conditions
1B The Physician Associate is able to identify the condition as a possible diagnosis: may not have the knowledge/resources to confirm the diagnosis or to manage the condition safely, but can take measures to avoid immediate deterioration and refer appropriately.
Jump to content
Definition Aetiology Pathophysiology Risk factor Sign and Symptoms Investigations Management
Definition
Esophageal neoplasms, also known as esophageal neoplasms, refer to a group of abnormal cell growths or tumours that develop in the oesophagus - the muscular tube that connects the throat to the stomach. These neoplasms can range from benign growths to malignant and cancerous tumours.
Aetiology
1. Tobacco and Alcohol Use:
One of the most well-established risk factors for esophageal neoplasms is the consumption of tobacco and excessive alcohol. Long-term tobacco use, whether through smoking or chewing, has been directly linked to an increased risk of oesophageal cancer. Similarly, heavy alcohol consumption, especially when combined with tobacco use, further elevates the risk. These substances can irritate the esophageal lining, leading to long-term damage and increasing the likelihood of neoplasm development.
2. Gastro-oesophageal reflux disease (GORD):
GORD is a chronic condition where stomach acid flows back into the oesophagus. The frequent exposure of the esophageal lining to stomach acid can cause chronic inflammation and mucosal damage, potentially leading to the formation of neoplasms over time. GORD is considered a significant risk factor for the development of oesophageal adenocarcinoma, the most common type of oesophageal cancer.
3. Obesity and Poor Diet:
Obesity, often associated with a poor diet high in processed foods and low in fruits and vegetables, has been identified as a risk factor for esophageal neoplasms. The underlying mechanisms connecting obesity and cancer are complex and not fully understood. However, excess body fat and inflammation caused by obesity can contribute to changes in the esophageal lining, creating a favourable environment for neoplastic growth.
4. Dietary Factors:
Dietary factors play a significant role in the development of esophageal neoplasms. Consumption of certain foods high in nitrites and nitrates, such as smoked or cured meats, has been associated with an increased risk. Hot beverages, particularly when consumed at very high temperatures, have also been linked to esophageal cancer in some populations. Additionally, a diet lacking in fruits and vegetables, which are rich in antioxidants and other protective compounds, may further increase the risk of neoplastic development.
5. Genetic and Familial Predisposition:
A small percentage of esophageal neoplasms are the result of genetic and familial factors. Specific genetic mutations, inherited through family lines, can predispose individuals to the development of oesophageal cancer.
Pathophysiology
1. Genetic Factors: Several genetic alterations play a crucial role in the development of oesophagus neoplasms. Mutations in tumour suppressor genes, such as TP53 and CDKN2A, are commonly observed in these cancers. These gene alterations disrupt the normal regulatory mechanisms that control cell growth and division, leading to uncontrolled cell proliferation and tumour formation.
2. Environmental Factors: Chronic exposure to certain environmental substances significantly increases the risk of developing esophageal neoplasms. tobacco smoke, alcohol consumption, and certain dietary factors, such as a diet low in fruits and vegetables, have been linked to an increased risk of developing these tumours. The interaction between these environmental factors and genetic predispositions plays a crucial role in the pathogenesis of esophageal neoplasms.
3. Barrett's Oesophagus: Barrett's oesophagus is a condition in which the normal squamous epithelium lining of the lower oesophagus is replaced by columnar epithelial cells. This precancerous condition occurs as a result of chronic gastroesophageal reflux disease (GERD). Over time, the metaplastic columnar cells have an increased risk of progressing to dysplasia and ultimately to esophageal neoplasms.
4. Inflammatory Microenvironment: Chronic inflammation has been recognized as a key factor in the development of various types of cancers, including esophageal neoplasms. Ongoing inflammation in the oesophagus, caused by factors such as long-standing acid reflux or Helicobacter pylori infection, creates a microenvironment that promotes cellular damage, genetic mutations, and abnormal cell growth, leading to the formation of tumours.
5. Human Papillomavirus (HPV): Certain strains of HPV, primarily HPV-16 and HPV-18, have been associated with esophageal neoplasms. HPV infection can lead to the dysregulation of cell growth and division, contributing to the development of malignant cell populations in the esophageal lining.
Risk factors
1. Tobacco and Alcohol Consumption.
2. Gastro-oesophageal reflux disease (GORD).
3. Obesity and Poor Diet.
4. Age and Gender.
5. Family History and Genetic Predisposition: There is evidence to suggest that a family history of esophageal cancer can increase an individual's risk. Certain genetic mutations and inherited conditions, such as achalasia, are associated with a higher incidence of esophageal neoplasms.
6. Environmental and Occupational Exposures: Certain environmental and occupational factors have been linked to an increased risk of oesophageal cancer. Prolonged exposure to certain chemicals, such as asbestos, can raise the likelihood of developing this condition. Additionally, individuals working in industries like mining, metalworking, and petroleum refining may face higher risks due to exposure to carcinogens.
7. Lack of Physical Activity: Sedentary lifestyles and a lack of regular physical activity have been associated with an increased risk of many cancers, including esophageal neoplasms. Engaging in regular exercise helps to maintain a healthy weight, boost the immune system, and reduce inflammation, all of which can contribute to lowering the risk of developing cancer.
Sign and symptoms
1. Dysphagia: One of the primary symptoms of oesophagus neoplasms is difficulty swallowing or dysphagia. Individuals may experience discomfort or a sensation of food getting stuck in the throat or chest while eating or drinking. Initially, this may occur with solid foods and progressively worsen over time.
2. Chronic Indigestion: Frequent and persistent indigestion can be a sign of oesophageal cancer. Acid reflux, characterised by a burning sensation in the chest (heartburn) or regurgitation of food, may occur more frequently, irrespective of food intake.
3. Unexplained Weight Loss: Esophageal neoplasms can often lead to unexplained and unintentional weight loss. This occurs due to a combination of factors, including difficulty in eating, decreased appetite, and the cancer's metabolic effects on the body.
4. Pain and Discomfort: Some individuals with oesophageal cancer may experience pain or discomfort in the chest or upper abdomen. This pain can be sharp, persistent, and may worsen while swallowing or lying down.
5. Persistent Cough or Hoarseness: A persistent cough or hoarseness that lasts for several weeks or months without any apparent cause can be an early indication of esophageal neoplasms. This symptom occurs due to the tumour's proximity to the respiratory tract, leading to irritation and inflammation.
6. Bleeding and Anaemia: In some cases, oesophageal cancer can cause bleeding, leading to blood in the stool or vomiting blood (hematemesis). This can contribute to the development of iron deficiency anaemia, leading to symptoms such as fatigue, weakness, and pale skin.
7. Unexplained Fatigue: Oesophagus neoplasms can cause chronic fatigue and weakness due to the body's constant battle with cancer cells. Individuals may feel excessively tired, even after getting adequate rest and sleep.
Diagnosis and investigations
1. History and Physical Examination: PAs will inquire about symptoms, risk factors (such as smoking, alcohol consumption, and obesity), and any family history of cancer.
2. Endoscopy: Endoscopy is a crucial diagnostic tool for esophageal neoplasms. It involves the insertion of a thin, flexible tube with a light and camera through the mouth into the oesophagus. This procedure allows the doctor to visualise and examine the inside of the oesophagus, capturing images and potentially taking tissue samples (biopsies) for analysis.
3. Biopsy: During endoscopy, if any suspicious areas are observed, the doctor may collect small tissue samples (biopsy) from the esophageal lining. The biopsy samples are then sent to a laboratory for microscopic examination by a pathologist to confirm the presence of cancerous cells.
4. Imaging Studies:
Barium Swallow: In a barium swallow or upper gastrointestinal series, the patient consumes a contrast material (barium), which coats the lining of the oesophagus. X-rays are then taken to highlight any abnormalities, such as tumours or strictures.
Computed Tomography (CT) Scan: CT scans generate detailed cross-sectional images of the body. A CT scan of the chest, abdomen, and pelvis is commonly performed to determine the extent of the esophageal neoplasm and whether it has spread to nearby lymph nodes or other organs.
Positron Emission Tomography (PET) Scan: PET scans are used to identify and stage cancer by showing the metabolic activity of cells. A radioactive tracer is injected into the patient's body, and a PET scanner detects the tracer to produce images. This scan is particularly useful in detecting distant metastases or cancer that has spread beyond the primary site.
5. Laboratory Tests: Blood tests are conducted to evaluate general health, liver function, and to check for tumour markers that can aid in the diagnosis and monitoring of esophageal neoplasms. Tumour markers commonly associated with these neoplasms include CEA (carcinoembryonic antigen) and CA 19-9 (carbohydrate antigen 19-9).
Management
Treatment Modalities
The management of esophageal neoplasms depends on several factors including the type and stage of cancer, the patient's overall health, and personal preferences. A collaborative effort between surgeons, medical oncologists, radiation oncologists, and other healthcare professionals is critical in tailoring a comprehensive treatment plan.
Surgery
Surgical resection of the tumour is considered the primary treatment modality for localised oesophageal cancer. The extent of surgery varies depending on the location and stage of the tumour. Procedures such as esophagectomy, where a portion or the entire oesophagus is removed, may be performed, often along with lymph node dissection. Advances in surgical techniques, such as minimally invasive and robotic-assisted surgeries, have shown promising outcomes in reducing postoperative complications and improving patient recovery.
Radiation Therapy
Radiation therapy, either as an adjunct to surgery or as a standalone treatment, is commonly employed in esophageal neoplasm management. It involves the use of high-energy X-rays or other forms of radiation to destroy cancer cells and prevent their growth. External beam radiation therapy is the most common method used, which precisely targets the tumour while sparing healthy surrounding tissue.
Chemotherapy
Chemotherapy, either administered alone or in combination with surgery and/or radiation therapy, is often recommended in cases where the tumour has spread beyond the oesophagus or surgical resection is not feasible. This systemic treatment aims to kill cancer cells throughout the body and prevent their proliferation.
Targeted Therapy and Immunotherapy
Advancements in understanding the molecular mechanisms underlying esophageal neoplasms have led to the emergence of targeted therapy and immunotherapy. Targeted therapy utilises drugs that specifically target genetic or protein abnormalities present in cancer cells. Immunotherapy, on the other hand, stimulates the body's immune system to recognize and destroy cancer cells. These treatment modalities are often used in advanced or metastatic esophageal cancers, where traditional therapies may have limited efficacy.