Rare Pulmonology News

Disease Profile

Adenocarcinoma of the appendix

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.


US Estimated

Europe Estimated

Age of onset





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


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.


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.


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


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.


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.


Not applicable


Other names (AKA)

Mucinous adenocarcinoma; Cystadenocarcinoma; Nonmucinous adenocarcinoma;


Rare Cancers


Cancer of the appendix is very rare and is typically found incidentally during appendectomies, in about 1% of the cases. According to a report published by the National Cancer Institute, using the Surveillance, Epidemiology, and End Results (SEER) database, appendix cancer account for about 0.4% of gastrointestinal tumors. There are several subytpes. The most common is the carcinoid type (66% of the total), with cyst-adenocarcinoma accounting for 20% and adenocarcinoma accounting for 10%. Then there are the rare forms of cancers which include adenocarcinoid, signet ring, non-Hodgkin’s lymphoma, ganglioneuroma, and pheochromocytoma. Benign primary tumors are mainly “mucinous epithelial neoplasms”, also called adenomas, cystadenoma, and benign neoplastic mucocele.[1]

Adenocarcinoma of the appendix is a epithelial cancer of the appendix.[2] The term 'epithelium' refers to cells that line hollow organs and glands and those that make up the outer surface of the body. Epithelial cells help to protect or enclose organs. Some produce mucus or other secretions.[3] Types of adenocarcinoma of the appendix include mucinous adenocarcinoma, non-mucinous adenocarcinoma, and signet cell carcinoma of the appendix (which is the rarest, involving only 4% of all the subtypes of appendix cancer).[2][4]


The most common symptom of adenocarcinoma of the appendix is acute appendicitis.[2][5][6] Other symptoms include a palpable abdominal mass, ascites (fluid buildup), peritonitis (inflammation of the membrane lining the abdominal cavity) due to a hole or tear in the appendix, and non-specific gastrointestinal or genitourinary symptoms such as bloating, vague abdominal pain, and tenderness.[4][5]


The diagnosis of adenocarcinoma of the appendix is rarely made or suspected without surgery. It is often identified along with acute appendicitis.[1][2][5][4] It may also be suspected after completing imaging of the appendix, such as a CT scan, and finding a right sided cystic mass.[2] The diagnosis is usually confirmed through biopsy or evaluation of tissues under a microscope.[1]


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

      • Cancer.Net, oncologist-approved cancer information from the American Society of Clinical Oncology, has information about appendix cancer. Click on the link to view the information.

        In-Depth Information

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


          1. Ruoff C, Wanqing Zhi LH, Shahzad G, Gotlieb V & Wasif M. Cancers of the Appendix: Review of the Literatures. ISRN Oncology. June 26, 2011; 2011(2011):https://www.hindawi.com/journals/isrn/2011/728579/. Accessed 6/12/2015.
          2. Sarosi GA, Turnage RH.. Miscellaneous topics. In: Feldman et al, eds. Sleisenger & Fordtran's Gastrointestinal and Liver Disease. 8th ed. Philadelphia, PA: Saunders; 2006;
          3. Epithelium. MedlinePlus. June 11, 2012; https://www.nlm.nih.gov/medlineplus/ency/article/002363.htm. Accessed 6/12/2015.
          4. Ahmed K, Hoque R, El-Tawil S, Khan MS, George ML. Adenocarcinoma of the appendix presenting as bilateral ureteric obstruction. World J Surg Oncol. 2008 Feb 21; 6(23):https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/18291037/.
          5. Hu CC, Chang JJ, Chen TC, Yen CL, Chien RN. Colonoscopic feature of primary adenocarcinoma of the appendix. Intern Med. 2008; 47(4):255-257. https://www.ncbi.nlm.nih.gov/pubmed/18277025.
          6. Appendix Cancer: Introduction. Cancer.Net. 4/2016; https://www.cancer.net/cancer-types/appendix-cancer/introduction. Accessed 12/7/2016.

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