Rare Pediatrics News

Disease Profile

Goblet cell carcinoid

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

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ICD-10

C18.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Goblet cell carcinoma; Mucinous carcinoid; GCC;

Categories

Digestive Diseases; Endocrine Diseases; Rare Cancers

Summary

Goblet cell carcinoid (GCC) is a rare tumor normally occurring in the appendix which displays features of both a neuroendocrine tumor and a more aggressive form of cancer known as an adenocarcinoma.[1][2] It is usually diagnosed in people over the age of 50. People with this tumor may develop acute appendicitis, abdominal pain, and diarrhea. Prognosis largely depends on the size of the tumor and whether it has spread to other parts of the body. Treatment involves surgery to remove the tumor. Depending on how much the tumor has spread, surgeons may remove the appendix, part of the colon, or the ovaries (in women). Some people will have chemotherapy after surgery.[2]

Symptoms

The most common first signs in individuals with goblet cell carcinoid are acute appendicitis, abdominal pain and/or a lower abdominal palpable mass.[1] Symptoms of appendicitis may include pain and/or swelling in the abdomen; loss of appetite; nausea and vomiting; constipation or diarrhea; inability to pass gas; and/or a low fever.[3][4]

Other signs and symptoms may include bowel obstruction, intussusception, gastrointestinal bleeding, and chronic intermittent lower abdominal pain. Rare presentations have reportedly included mesenteric adenitis, and iron deficiency anemia due to cecal ulceration.[1]

Treatment

Surgical resection (removing the abnormal tissue) is the primary treatment for goblet cell carcinoid (GCC). However, due to the condition's rarity, there is a lack of ample evidence or general consensus regarding the extent to which resection should be performed for different stages of this condition.[1]

Because of the typical course of the condition and the malignant nature of the tumors, treatment recommendations are more similar to that of adenocarcinomas rather than most carcinoids. Stage I tumors may be treated with appendectomy alone. However, in higher stages, a right hemicolectomy (RH) is the most commonly recommended surgical option despite controversy in the medical community. The justification for RH is to do adequate nodal sampling (when samples are taken to check for more cancer) because metastasis is common. Some researches have reported a lack of benefit from extensive surgery provided there is no nodal involvement. It has also been reported by some researchers that in patients studied, the 5-year survival rates were not significantly different between those treated with appendectomy and those who underwent RH.[1] Careful follow-up after surgery is highly recommended and may include periodic physical examinations, blood testing, and imaging studies.[5] In some cases, adjuvant chemotherapy is also recommended.[1]

We are unable to give advice to individuals regarding the best course of treatment. We recommend speaking with your health care provider to discuss treatment options.

Organizations

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

      Learn more

      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 American Cancer Society has an information page on gastrointestinal carcinoid tumor. Click on American Cancer Society to view the information page.
      • The Carcinoid Cancer Foundation, Inc. has an information page on carcinoid tumors and related neuroendocrine tumors. Click on Carcinoid Cancer Foundation, Inc. to view the information page.
      • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

          References

          1. Paromita Roy and Runjan Chetty. Goblet cell carcinoid tumors of the appendix: An overview. World J Gastrointest Oncol. June 15, 2010; 2(6):251–258. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2998842/. Accessed 5/1/2015.
          2. Information for people affected by Goblet Cell Carcinomas. NET Patient Foundation. July 2014; https://www.netpatientfoundation.org/wp-content/uploads/020-NPF-GOBLET-CELL-CARCINOMA-v6.pdf. Accessed 5/1/2015.
          3. Plöckinger U, Couvelard A, Falconi M, Sundin A, Salazar R, Christ E, de Herder WW, Gross D, Knapp WH, Knigge UP, Kulke MH, Pape UF; Frascati. Consensus Conference participants. Consensus guidelines for the management of patients with digestive neuroendocrine tumours: well-differentiated tumour/carcinoma of the appendix and goblet cell carcinoma. Neuroendocrinology. Epub 2007 Oct 11 -7;
          4. Byrn JC, Wang JL, Divino CM, Nguyen SQ, Warner RR. Management of goblet cell carcinoid. J Surg Oncol. 2006 Oct 1;
          5. Roy P, Chetty R. Goblet cell carcinoid tumors of the appendix: An overview. World Journal of Gastrointestinal Oncology. 2010; 2:251-258. https://www.ncbi.nlm.nih.gov/pubmed/21160637. Accessed 3/21/2012.

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