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

• Fibroblastic Polyp of Colon
• Intestinal Perineurioma
• Perineurioma of the GI Tract

What is Gastrointestinal Tract Perineurioma? (Definition/Background Information)

• Gastrointestinal (GI) Tract Perineurioma is a rare tumor that affects middle-aged and older women. It usually occurs in the left colon (large intestine) and rectum. Very rarely, it may occur in the right colon and small intestine
• Perineurioma is a rare tumor of the perineurial cells, a type of cells that are present around a peripheral nerve sheath. These tumors are generally benign in nature, but may be occasionally malignant
• Perineuriomas can occur at a superficial location (underneath the skin), or they may be deep-seated (affecting various internal organs)
• There are no identified risk factors or causative factors for Gastrointestinal Tract Perineurioma, though certain chromosomal abnormalities have been observed
• In a majority of cases, GI Tract Perineuriomas may present no signs and symptoms. And, these tumors may be only incidentally discovered, while performing radiological studies for other health reasons
• If the tumors are asymptomatic, then no treatment may be necessary. In these cases, a ‘wait and watch’ approach may be adopted by the healthcare provider. If required, a complete surgical excision of the Gastrointestinal Tract Perineurioma is performed
• The prognosis is generally excellent for small tumors that are easily removed, since these tumors are generally benign. The prognosis of malignant GI Perineuriomas depends upon several factors including the tumor stage, age and health status of the individual, etc.

Who gets Gastrointestinal Tract Perineurioma? (Age and Sex Distribution)

• Gastrointestinal Tract Perineurioma usually occurs in adult women, who are in the age range of 35-72 years (average age at presentation is 50 years)
• Both females and males are affected, although females are affected more than males
• There is no racial or ethnic preference observed; this tumor is seen worldwide in men and women

What are the Risk Factors for Gastrointestinal Tract Perineurioma? (Predisposing Factors)

• The risk factors for Gastrointestinal Tract Perineurioma are currently unknown or unidentified

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones 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 Gastrointestinal Tract Perineurioma? (Etiology)

• The exact cause of Gastrointestinal Tract Perineurioma formation and development is unknown
• Studies have shown chromosomal abnormalities on chromosome 22 (monosomy of chromosome 22)

What are the Signs and Symptoms of Gastrointestinal Tract Perineurioma?

The signs and symptoms of Gastrointestinal Tract Perineurioma may include:

• Normally, these are well-circumscribed, small, solitary tumors that do not cause any significant signs and symptoms
• They are usually small and less than 1 cm in size; median size at diagnosis is 0.4 cm
• There may be pain in the affected region
• Perineuriomas of the GI Tract occur in the left colon and rectum in a majority of cases. Very infrequently, they may be seen in the right colon, small intestine, and esophagus

How is Gastrointestinal Tract Perineurioma Diagnosed?

Gastrointestinal Tract Perineurioma is diagnosed using the following tools:

• Complete physical examination with comprehensive evaluation of medical history
• Colonoscopy: GI Tract Perineurioma is typically detected during a screening colonoscopy, as a polyp
• Tissue biopsy: A tissue biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis. The biopsy is generally performed to rule out other more severe conditions

Note: Even though GI Tract Perineuriomas are typically benign, biopsies are performed for diagnostic purposes to rule out other serious tumors.

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 Gastrointestinal Tract Perineurioma?

There are no significant complications due to Gastrointestinal Tract Perineurioma; however, some tumors may turn malignant (malignant transformation of GI Perineurioma).

How is Gastrointestinal Tract Perineurioma Treated?

Treatment measures for Gastrointestinal Tract Perineurioma may include the following:

• If there are no symptoms, then periodic observation is maintained. If there is any pain, it can be controlled through pain medication
• Surgical excision with removal of the entire tumor is undertaken, if the symptoms are severe. This is normally curative. A surgery may not be usually performed in many cases, since the risks for surgery may far outweigh the benefits
• Post-operative care is important: One must maintain minimum activity levels, until the surgical wound heals
• Post-operative follow-up care with regular screening and check-ups are important

How can Gastrointestinal Tract Perineurioma be Prevented?

Current medical research has not established a way of preventing Gastrointestinal Tract Perineurioma. Nevertheless, annual screening colonoscopies are advised for all men and women, as recommended by the healthcare provider.

What is the Prognosis of Gastrointestinal Tract Perineurioma? (Outcomes/Resolutions)

• In many cases, Gastrointestinal Tract Perineuriomas are asymptomatic and these tumors may not require any treatment. However, the healthcare provider may undertake regular monitoring of the tumor, which is important
• The prognosis is generally excellent, when the tumors are small and are completely excised. There is no recurrence of the tumor on their complete surgical excision and removal

Additional and Relevant Useful Information for Gastrointestinal Tract Perineurioma:

• The GI Perineuriomas in the colon, when examined under a microscope are associated with hyperplastic changes in the mucosa. In this scenario, they may associated with BRAF mutations in 70% of the cases
• A differential diagnosis may be considered to eliminate the following tumors:
  • Neurofibroma
  • Solitary fibrous tumor
  • Leiomyoma
  • Schwann cell hamartoma
  • Ganglioneuroma