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Digestive System Melanoma

Last updated May 8, 2018

Approved by: Maulik P. Purohit MD, MPH

Digestive System Melanoma refers to a melanoma starting in the stomach, intestines, salivary glands, mouth, esophagus, liver, pancreas, gallbladder, or rectum.


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

  • Malignant Melanoma of the Gastrointestinal Tract
  • Melanoma of the Gastrointestinal Tract
  • Primary Gastrointestinal Melanoma

What is Digestive System Melanoma? (Definition/Background Information)

  • Digestive System Melanoma refers to a melanoma starting in the stomach, intestines, salivary glands, mouth, esophagus, liver, pancreas, gallbladder, or rectum
  • Melanoma is a disease in which malignant (cancer) cells form in the melanocytes. Melanocytes are commonly found in the skin and are the cells that give the skin color
  • While it is not uncommon for melanomas to start in the skin and later spread to other parts of the body (metastasize), melanomas originating in the gastrointestinal tract are rare. The most frequently reported site is in the esophagus and anorectum
  • Symptoms of a Digestive System Melanoma may be nonspecific, including blood in the stool, stomach pain, vomiting, diarrhea, weight loss and anemia (low red blood cell count)
  • The cause of Digestive System Melanoma is not well understood. Some researchers theorize that it may have originated from an undetected primary tumor
  • Treatment may include surgical excision of the gastrointestinal tract involved, chemotherapy, and immunotherapy

(Source: Digestive System Melanoma; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Digestive System Melanoma? (Age and Sex Distribution)

  • Digestive System Melanoma is a rare condition that may affect individuals of all ages 
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Digestive System Melanoma? (Predisposing Factors)

  • Currently, no risk factors have been clearly identified for Digestive System Melanoma

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 Digestive System Melanoma? (Etiology)

The cause of formation of Digestive System Melanoma is currently unknown. The theories explaining its development include:

  • The cancer originated from a undetectable primary tumor that spontaneously (naturally) regressed on its own
  • The cancer originated from a primary tumor that is so small it can not be detected using standard clinical and laboratory investigations
  • Early melanocyte cells (not usually found in the digestive system) lost their way during the development of the baby in the womb, and that these misplaced cells later became cancerous

(Source: Digestive System Melanoma; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Digestive System Melanoma?

The signs and symptoms of Digestive System Melanoma may vary from person to person and include:

  • Nausea
  • Vomiting
  • Stomachache
  • Fatigue
  • Hemorrhage (broken blood vessels)
  • Blood in stool
  • Anemia (low red blood cell count)

(Source: Digestive System Melanoma; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Digestive System Melanoma Diagnosed?

  • A variety of imaging tests may be involved in the initial detection of the tumor in Digestive System Melanoma, including video capsule endoscopy, ultrasound, PET scan, and CT scan
  • The tumor is confirmed by surgical resection. Careful study of tissue samples from the tumor under a microscope will show the same immunohistochemical characteristics of skin melanomas
  • Once this has been established, the following are proposed diagnostic criteria for primary melanoma of the small intestine
    • I. The identification of a single solitary melanoma in the mucosa of the digestive system
    • II. The presence of other melanoma in the surrounding areas of the digestive system 
    • III. The absence of cutaneous melanoma or other atypical skin tumors in the melanocytes

(Source: Digestive System Melanoma; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

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 Digestive System Melanoma?

The complications of Digestive System Melanoma may include:

  • Metastasis of the cancer to distant locations
  • Recurrence of melanoma after treatment

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Digestive System Melanoma Treated?

  • Treatment of Digestive System Melanoma is dependent on the spread of the cancer and where it is located. Treatment might include:
    • Surgery to remove the tumor and portion of the gastrointestinal tract involved
    • Chemotherapy
    • Immunotherapy
  • The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition
    • Aldesleukin (FDA-approved indication: Treatment of adults with metastatic melanoma)

(Source: Digestive System Melanoma; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Digestive System Melanoma be Prevented?

  • At the present time, no methods or guidelines are available for the prevention of Digestive System Melanoma, since the exact cause and risk factors for the condition are not known 
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
  • Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Digestive System Melanoma? (Outcomes/Resolutions)

  • The prognosis for individuals with Digestive System Melanoma varies from person to person
  • Important prognostic factors include if metastases are present at the time of diagnosis
  • Studies suggest that the average survival after complete removal of the tumor is about 48.9 months. The longest reported survival after diagnosis is 21 years

(Source: Digestive System Melanoma; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Additional and Relevant Useful Information for Digestive System Melanoma:

Digestive System Melanoma is also known by the following additional synonym:

  • Melanoma of the Digestive System
  • Melanoma of the GI Tract

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: May 8, 2018
Last updated: May 8, 2018