What are the other Names for this Condition? (Also known as/Synonyms)

• Esophageal Leiomyoma
• Leiomyoma of Oesophagus
• Oesophageal Leiomyoma

What is Leiomyoma of Esophagus? (Definition/Background Information)

• Leiomyoma of Esophagus is a common benign tumor that forms in the esophagus. The esophagus is a part of the upper gastrointestinal tract and is also known as the ‘food-pipe’
• Leiomyoma of Esophagus lesions arise from smooth muscles and are usually less than 3 cm in size. It can occur in both children and adults
• The cause of tumor is unknown in most cases, but research has indicated that certain genetic factors are involved. Leiomyoma of Esophagus may arise sporadically, or in the presence of an associated genetic disorder, such as Alport syndrome or multiple endocrine neoplasia 1
• Small-sized tumors are not known to cause any significant symptoms, but larger tumors may cause swallowing difficulties due to obstruction of food-pipe
• A complete surgical removal of the lesion results in a cure. The prognosis of Leiomyoma of Esophagus is excellent and it does not recur after removal. But, the prognosis also depends on the severity of the associated genetic condition, if any

Who gets Leiomyoma of Esophagus? (Age and Sex Distribution)

• Leiomyoma of Esophagus is the most common benign tumor in the food-pipe
• A wide age range of individuals may be affected including children and adults; average age of presentation is around 35 years, with age range 20-50 years
• When the tumor is seen among younger populations, it may be seen in the background of an underlying genetic disorder
• More males than females are affected (male to female ratio is 2:1)
• No racial or ethnic predilection is observed

What are the Risk Factors for Leiomyoma of Esophagus? (Predisposing Factors)

• Currently, no definitive risk factors for Leiomyoma of Esophagus are known, when the tumors occur sporadically
• However, in some cases, an association of the tumor with the following genetic disorder is noted:
  • Multiple endocrine neoplasia type 1 (MEN1)
  • Alport syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Leiomyoma of Esophagus? (Etiology)

The exact cause of Leiomyoma of Esophagus is unknown. Researchers have documented certain genetic changes within the tumor.

• Some tumors are associated with certain genetic disorders that include multiple endocrine neoplasia type 1 (MEN1) and Alport syndrome
  • MEN type 1: It is an autosomal dominant condition that is caused by mutations involving the MEN1 gene
  • Alport syndrome: It arises due to mutations on the COL4A5 and COL4A6 genes at the chromosomal site Xq22. An X-linked inheritance pattern is noted
• Most tumors are sporadic and are observed to arise spontaneously. In some sporadic tumors, the involvement of COL4A5 and COL4A6 have been reported (somatic deletions)

What are the Signs and Symptoms of Leiomyoma of Esophagus?

Some small-sized Leiomyomas of Esophagus may not cause any significant symptoms and are detected incidentally. In others, the following signs and symptoms may be noted:

• Most common is swallowing difficulty from large-sized tumors
• Most tumors are 1-3 cm sized nodules on the esophageal wall, or are located into the wall layers; some may grow to about 5 cm in size
• The tumors are commonly located in the middle-third or lower-third portion of the esophagus, closer to the stomach
• In 75% of the cases, a solitary nodule is observed; while, in 25% of the cases, there may be multiple tumors (including tumors at other body locations)
• In children/adults with associated genetic disorder (MEN1 or Alport syndrome), there may be a set of complex ‘seed’ tumors of 1-2 mm size. This is known as leiomyomatosis
• Tumors are rarely known to ulcerate and bleed

How is Leiomyoma of the Esophagus Diagnosed?

A diagnosis of Leiomyoma of Esophagus would involve:

• Physical exam and evaluation of medical history
• X-ray of the chest
• CT or MRI scan of the chest
• Upper GI endoscopy: An endoscopic procedure is performed using an instrument called an endoscope, which consists of a thin tube and a camera. Using this technique, the radiologist can have a thorough examination of the insides of the upper gastrointestinal tract
• Endoscopic ultrasonography: During this procedure, fine needle aspiration biopsy (FNAB) can be performed on the affected area. This is good technique for tumor detection
• A tissue biopsy of the tumor (polyp) is performed and sent to a laboratory for a pathological examination
  • A pathologist examines the biopsy under a microscope. If it is indeed a polyp, a distinct appearance is noted by the pathologist. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis
  • Examination of the biopsy under a microscope by a pathologist is considered to be gold standard in arriving at a conclusive diagnosis
  • Biopsy specimens are studied initially using Hematoxylin and Eosin staining. The pathologist then decides on additional studies depending on the clinical situation
  • Sometimes, the pathologist may perform special studies, which may include immunohistochemical stains, molecular testing, and very rarely, electron microscopic studies to assist in the diagnosis

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Leiomyoma of Esophagus?

The complications of Leiomyoma of Esophagus are normally rare. In some cases, large tumors may cause the following complications:

• Ulceration of the tumor can lead to secondary infections of bacteria and fungus
• Compression of the underlying nerve, which can affect nerve function
• Severe obstruction of the food-pipe with pain, leading to difficulties in eating
• Stricture formation of esophagus
• Complications that arise from any underlying genetic disorder
• Damage to the muscles, vital nerves, and blood vessels, during surgery
• Post-surgical infection at the wound site is a potential complication

How is Leiomyoma of Esophagus Treated?

Due to the benign (non-cancerous) nature of Leiomyoma of Esophagus, small-sized tumors do not generally require any treatment. However, they may be removed to confirm the diagnosis.

• In some cases, the healthcare provider may recommend a ‘wait and watch’ approach for small-sized tumors, after diagnosis is confirmed
• A complete surgical resection of the tumor is usually curative. It is normally undertaken when significant symptoms are observed
• Additionally, treatment measures for any underlying genetic disorder is also instituted

How can Leiomyoma of Esophagus be Prevented?

Currently, no known preventive methods exist for Leiomyoma of Esophagus. However, in case it is associated with a genetic disorder, then the following may be considered:

• Genetic counseling and testing
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child

What is the Prognosis of Leiomyoma of Esophagus? (Outcomes/Resolutions)

• The prognosis for individuals with Leiomyoma of Esophagus is generally excellent in case of sporadic tumors (that occur in a majority of cases)
• The prognosis of individuals with the tumor against a background of a genetic disorder, depend on the severity of the symptoms and complications of the underlying genetic condition

Additional and Relevant Useful Information for Leiomyoma of Esophagus:

The following DoveMed website links are useful resources for additional information:

http://www.dovemed.com/diseases-conditions/cancer/