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

• Appendiceal Ganglioneuroma
• Appendicular Ganglioneuroma

What is Ganglioneuroma of Appendix? (Definition/Background Information)

• Ganglioneuroma of Appendix is a very rare, benign (non-cancerous) lesion that forms in the appendix. The appendix is a small blind pouch of the colon, located at the beginning of the colon (large intestine)
• Ganglioneuromas are not pre-malignant - meaning that individuals are not at an increased risk for developing appendiceal cancer. The tumors are generally detected in older men and women
• Ganglioneuroma of Appendix is usually diagnosed incidentally, while performing tests for other medical conditions. In many cases, small-sized tumors do not cause any pain and other significant symptoms
• However, larger tumors may present symptoms similar to acute appendicitis, such as severe abdominal pain, nausea and vomiting, and constipation, in some cases
• A complete surgical removal of the tumor results in a cure. The prognosis of Ganglioneuroma of Appendix is excellent and recurrences are rare

Who gets Ganglioneuroma of Appendix? (Age and Sex Distribution)

• Ganglioneuroma of Appendix may be observed at any age. But, they are more commonly diagnosed in adulthood (older adults may have a higher risk)
• Children may be rarely affected; in which case, it is mostly seen in the background of an inherited genetic disorder
• Both males and females are affected
• No racial or ethnic predilection is observed

What are the Risk Factors for Ganglioneuroma of Appendix? (Predisposing Factors)

The specific risk factors of Ganglioneuroma of Appendix are unknown in a majority of cases. In some rare cases, the risk factors for ganglioneuromas within the digestive tract may include:

• PTEN hamartomatous tumor syndrome - a unified syndrome that includes Cowden disease and Bannayan-Ruvalcaba-Riley syndrome
• Familial adenomatous polyposis (FAP)
• Juvenile polyposis
• Multiple endocrine neoplasia (MEN) type 2B
• Neurofibromatosis type 1 (NF1)
• Smoking
• Inflammatory bowel disease

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 Ganglioneuroma of Appendix? (Etiology)

In a majority of cases, the cause of formation of Ganglioneuroma of Appendix is unknown.

• The ganglioneuromas are benign hamartomatous tumors that arise from the autonomic nervous system
• The tumor may also occur due to certain genetic mutations that predispose an individual to developing these polyps
• The tumors may be sporadic (in majority of cases) or familial (in some cases)

What are the Signs and Symptoms of Ganglioneuroma of Appendix?

Many Ganglioneuroma of Appendix tumors do not cause any significant symptoms. They may be found incidentally during imaging studies that are performed for other health condition. In some individuals, the signs and symptoms of Appendiceal Ganglioneuroma may include:

• Symptoms that are similar to acute appendicitis, such as the following, may be present infrequently:
  • Abdominal pain that first originates around the umbilicus and then gradually moves towards a point on the right lower quadrant of the abdomen, called the McBurney’s point
  • Sometimes, the pain can occur anywhere in the upper or lower abdomen, back, or rectum
  • Nausea and vomiting
  • In some, fever, shivering, and chills may be noted
  • Loss of appetite
  • Constipation or diarrhea
  • Occasionally, painful urination and severe cramps can occur
• The pain may be present for a long duration of time
• Presence of an abdominal mass with abdominal tenderness
• Swollen abdomen
• Bleeding from the anus
• Mucus mixed with stools
• Tumor is usually less than 1 cm in size, but may be as large as 3 cm
• Some large-sized tumors may obstruct the lumen of the appendix
• Signs and symptoms of an underlying condition, if any present, may be noted

How is Ganglioneuroma of Appendix Diagnosed?

A diagnosis of Ganglioneuroma of Appendix would involve the following tests and exams:

• Physical exam and evaluation of medical history
• Complete blood count (CBC)
• Basic metabolic panel
• X-ray of abdomen
• Ultrasound or CT scan of abdomen
• Screening colonoscopy: A colonoscopy is a test that allows the physician to look at the inner lining of the colon and rectum. A typical colonoscopy involves using a thin, flexible tube (called a colonoscope), with an attached video camera, to view the colon and rectum

A tissue biopsy of the tumor 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 Ganglioneuroma of Appendix?

Ganglioneuromas of Appendix are normally not harmful due to their benign nature. Therefore, any complications arising from such tumors are typically minimal. However, in case of large-sized tumors, the following complications may be observed:

• Rupture/perforation of the appendix
• Peritonitis secondary to rupture/perforation of the appendix (spread of infection to areas outside of the appendix)
• Abscess formation
• Post-operative complications: Infection of the surgical wound after operating upon the tumor
• Recurrence of the tumor after surgery has been noted, in some rare cases

How is Ganglioneuroma of Appendix Treated?

Due to the benign (non-cancerous) nature of Ganglioneuroma of Appendix, they do not generally require any treatment. However, in case of significant symptoms and to confirm the diagnosis, most tumors are surgically removed.

• They are removed during a colonoscopy and sent for testing, in order to ensure that they are non-malignant or harmless
• A complete surgical resection of the tumor is usually curative. The following procedures may be considered:
  • Open appendectomy: It involves making a deep incision on the lower abdomen and removing the appendix from the surrounding abdominal organs
  • In laparoscopic approach, a surgeon makes 3 or 4 small incisions for insertion of the camera and the laparoscopic instruments and the appendix is cut and removed

Regular observation and periodic checkups to monitor the condition is recommended following treatment.

How can Ganglioneuroma of Appendix be Prevented?

Currently, there are no known preventive methods for Ganglioneuroma of Appendix. However, one may lower one’s risk of developing tumors in the gastrointestinal tract by maintaining a healthy lifestyle and observing a healthy diet routine.

If the tumor is associated with a genetic disorder, the following points 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
• Regular health check-ups might help those individuals with a history of the condition in the immediate family and help diagnose the tumor early

What is the Prognosis of Ganglioneuroma of Appendix? (Outcomes/Resolutions)

The prognosis for individuals with Ganglioneuroma of Appendix is generally excellent with treatment (surgical removal of the tumor).

Additional and Relevant Useful Information for Ganglioneuroma of Appendix:

The following article link will help you understand colonoscopy screening procedure.

https://www.dovemed.com/common-procedures/procedures-surgical/colonoscopy/