National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Digestive System Melanoma


Other Names:
Melanoma of the gastrointestinal tract; Melanoma of the GI tract; Malignant melanoma of the gastrointestinal tract; Melanoma of the gastrointestinal tract; Melanoma of the GI tract; Malignant melanoma of the gastrointestinal tract; primary gastrointestinal melanoma See More
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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.[1] 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).[2] The cause of digestive system melanoma is not well understood. Some researchers theorize that it may have originated from an undetected primary tumor.[1][2] Treatment may include surgical excision of the gastrointestinal tract involved, chemotherapy, and immunotherapy.[2]
Last updated: 6/23/2016
Symptoms of digestive system melanoma can vary from person to person. Symptoms tend to be non-specific including: nausea, vomiting, stomachache, fatigue, hemorrhage (broken blood vessels), blood in stool, and anemia (low red blood cell count).[1][3][4][2]
Last updated: 6/23/2016
The cause of digestive system melanoma is currently unknown. Theories include:[1][3][4][2]
  • 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
Last updated: 6/23/2016
A variety of imaging tests may be involved in the initial detection of the tumor, including: video capsule endoscopy, ultrasound, PET scan, and CT scan.[3][4][2] 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.[3] Once this has been established, the following are proposed diagnostic criteria for primary melanoma of the small intestine:[2]

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

Last updated: 6/23/2016
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, and immunotherapy.[2] 
Last updated: 6/23/2016

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

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.[3][2] The longest reported survival after diagnosis is 21 years.[3]
Last updated: 6/23/2016

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • Good Days provides help to patients with life-altering conditions. Assistance includes help with the cost of medications and travel.
  • The HealthWell Foundation provides financial assistance for underinsured patients living with chronic and life-altering conditions. They offer help with drug copayments, deductibles, and health insurance premiums for patients with specific diseases. The disease fund status can change over time, so you may need to check back if funds are not currently available.
  • Patient Access Network Foundation (PAN Foundation) has Assistance Programs for those with health insurance who reside in the United States. The disease fund status can change over time, so you may need to check back if funds are not currently available. 
  • The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.
  • The Assistance Fund provides various services, including education and financial aid, to help patients with a chronic or serious illness cover the cost of FDA-approved medications. Patients must be U.S citizens or permanent residents.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

In-Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Digestive System Melanoma. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have been diagnosed with digestive system melanoma of the small intestine. I can't find any information on this type of cancer. Can you help? Is there anyway to find other people with this condition? See answer


  1. Letovanec I, Vionnet M, Bouzourene H. . Primary appendiceal melanoma: Fiction or reality?. Human Pathol. 2004 May;
  2. Andreas V. Hadjinicolaou,corresponding author1 Christopher Hadjittofi, Panagiotis G. Athanasopoulos, Rahul Shah,Aftab A. Ala. Primary small bowel melanomas: fact or myth?. Ann Transl Med. Mar 2016; 4(6):113. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828744/.
  3. Atmatzidis KS et al.,. Primary malignant melanoma of the small intestine: Report of a case. Surg Today. 2002;
  4. Lagoudianakis EE et al.,. Primary gastric melanoma: A case report. World J. Gastroenterology. 2006 July 21;