Rare Infectious Disease News

Disease Profile

Papillary renal cell carcinoma

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

#N/A

ICD-10

#N/A

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)

RCCP; Renal adenocarcinoma; Papillary renal cell carcinoma, sporadic (subtype);

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Rare Cancers

Summary

Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas.[1]Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney.[2]The term "papillary" describes the finger-like projections that can be found in most of the tumors.[3] PRCC can be divided into two types: type 1, which is more common and usually grows more slowly and type 2, which are usually more aggressive .[1]Though the exact cause of papillary renal cell carcinoma is unknown, smoking, obesity, and genetic predisposition conditions (such as hereditary leiomyomatosis and renal cell cancer) may contribute to the development of this type of cancer. Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy.[3]

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
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Incomplete penetrance
0003829
Papillary renal cell carcinoma
0006766
Somatic mutation
0001428

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    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.

    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

      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 provides oncologist-approved cancer information from the American Society of Clinical Oncology and has information about Papillary renal cell carcinoma.
      • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

        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.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • 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 Papillary renal cell carcinoma. Click on the link to view a sample search on this topic.

          References

          1. Michael B Atkins, Toni K Choueiri. Epidemiology, pathology, and pathogenesis of renal cell carcinoma. UpToDate. November 24, 2015;
          2. Renal cell carcinoma. MedlinePlus. 3/23/2014; https://www.nlm.nih.gov/medlineplus/ency/article/000516.htm.
          3. Kidney Cancer (Adult)-Renal Cell Carcinoma. American Cancer Society. 2/24/2014; https://www.cancer.org/acs/groups/cid/documents/webcontent/003107-pdf.pdf.
          4. National Cancer Institute. General Information about Renal Cell Carcinoma. Renal Cell Cancer Treatment. July 7, 2015; https://www.cancer.gov/cancertopics/pdq/treatment/renalcell/Patient/page1.