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Disease Profile
Merkel cell carcinoma
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.
1-9 / 100 000
Age of onset
Adult
ICD-10
C44.3 C44.6 C44.7
Inheritance
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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)
Merkel cell cancer; Merkle tumors; Carcinoma, merkel cell;
Categories
Endocrine Diseases; Rare Cancers; Skin Diseases
Summary
Merkel
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
100% of people have these symptoms | ||
Merkel cell skin |
0030447 | |
30%-79% of people have these symptoms | ||
Cellular |
0005374 | |
Chronic noninfectious lymphadenopathy | 0002730 | |
Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] |
0000992 |
Erythematous macule | 0025475 | |
Erythematous plaque | 0025474 | |
Regional abnormality of skin | 0011356 | |
Skin nodule | 0200036 | |
5%-29% of people have these symptoms | ||
Basal cell carcinoma | 0002671 | |
Carcinoid |
0100570 | |
Lymphoid leukemia | 0005526 | |
Multiple myeloma | 0006775 | |
Squamous cell carcinoma of the skin | 0006739 | |
1%-4% of people have these symptoms | ||
Abnormal brain FDG positron emission tomography | 0012658 | |
Brain neoplasm | 0030692 | |
Neoplasm of the outer ear |
Outer ear tumor
|
0040095 |
Cause
Merkel cell polyomavirus is frequently involved in the development of MCC and is present in about 80% of MCC
Other
- being older than age 50
- having fair skin
- having a history of extensive sun exposure
- having chronic immune suppression (e.g.
organ transplantation or HIV)
Having one or more risk factors does not mean that a person will develop MCC. Most people with risk factors will not develop MCC.[1]
Treatment
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.
- Avelumab(Brand name: Bavencio) Manufactured by EMD Serono Research and Development Institute, Inc.
FDA-approved indication: Treatment of adults and pediatric patients 12 years and older with metastatic Merkelcell carcinoma.
National Library of Medicine Drug Information Portal - Pembrolizumab(Brand name: Keytruda) Manufactured by Merck, Sharp, and Dohme Corp.
FDA-approved indication: December 2018, pembrolizumab (Keytruda) was approved for the treatment of adult and pediatric patients with recurrent locally advanced or metastatic Merkel cell carcinoma.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
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
-
Cancer.net
Toll-free: 888-651-3038
Telephone: 571-483-1780
Fax: 571-366-9537
E-mail: [email protected]
Website: https://www.cancer.net/ -
Rare Cancer Alliance
1649 North Pacana Way
Green Valley, AZ 85614
Telephone: 520-625-5495
Website: https://www.rare-cancer.org -
The Skin Cancer Foundation
149 Madison Avenue Suite 901
New York, NY 10016
Telephone: 212-725-5176
Website: https://www.skincancer.org/
Organizations Providing General Support
-
American Cancer Society
250 Williams Street NW
Atlanta, GA 30329
Toll-free: 1-800-227-2345
Website: https://www.cancer.org -
Cancer Hope Network
2 North Road, Suite A
Chester, NJ 07930
Toll-free: 1-877-467-3638 (1-877-HOPENET)
Telephone: +1-908-879-4039
Fax: +1-908-879-6518
E-mail: [email protected]/
Website: https://www.cancerhopenetwork.org/ -
CancerCare
275 Seventh Ave, Floor 22
New York, NY 10001
Toll-free: 800-813-HOPE
Fax: 212-712-8495
E-mail: [email protected]
Website: https://www.cancercare.org/
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 provides detailed information about Merkel cell carcinoma. Click on the link to access this information.
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- The Merck Manual provides information on this condition for patients and caregivers.
- The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
- SkinCancerNet is a comprehensive online skin cancer information resource developed by the American Academy of Dermatology. Click on the link to view information on Merkel cell carcinoma.
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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Merkel cell carcinoma. Click on the link to view a sample search on this topic.
References
- General Information About Merkel Cell carcinoma. National Cancer Institute. July 22, 2016; https://www.cancer.gov/types/skin/patient/merkel-cell-treatment-pdq.
- Causes of Merkel cell carcinoma. merkelcell.org. February, 2017; https://merkelcell.org/about-mcc/causes-of-merkel-cell-carcinoma/.
- What Causes Merkel Cell Carcinoma?. American Cancer Society. April 13, 2015; https://www.cancer.org/cancer/merkel-cell-skin-cancer/causes-risks-prevention/causes.html.
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