Rare Rheumatology News

Disease Profile

Collecting duct 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

Adult

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ICD-10

C64

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)

CDC; Collecting duct carcinoma of the kidney; Renal collecting duct carcinoma;

Categories

Kidney and Urinary Diseases; Rare Cancers

Summary

Collecting duct carcinoma (CDC) is a rare and aggressive form of kidney cancer that begins in the collecting duct of the kidney.[1] Many people with CDC have no signs or symptoms until the cancer is at an advanced stage.[2] Symptoms may include flank pain, unexplained weight loss, or blood in the urine. Although it can affect people of all ages, CDC tends to occur in younger patients.[1] The exact cause of CDC is unknown. It usually occurs in people with no family history of the condition.[1] Treatment options for CDC may include surgery and/or chemotherapy.[2]

Treatment

Treatment of collecting duct carcinoma (CDC) may include surgery to remove the kidney. Chemotherapy may also be given. The authors of a 2013 review article mentioned that gemcitabine and cisplatin should be considered the standard of care for chemotherapy treatment of metastatic CDC. This treatment regimen is similar to what is given for transitional cell carcinoma, also known as urothelial carcinoma. Immunotherapy was not shown to be effective in treating CDC. There are a few reports of promising results from targeted therapy such as sunitinib or sorafenib. Studies are underway to learn more about these treatment options.[2]

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

    • The Kidney Cancer Association offers additional information on Collecting duct carcinoma. Please click on the link to access this resource.

      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.
      • 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 Collecting duct carcinoma. Click on the link to view a sample search on this topic.

        References

        1. Michael B Atkins, MD; Toni K Choueiri, MD. Epidemiology, pathology, and pathogenesis of renal cell carcinoma. UpToDate. March 2015; Accessed 7/6/2015.
        2. Dason S, Allard C, Sheridan-Jonah A, Gill J, Jamshaid H, Aziz T, Kajal B, Kapoor A. Management of renal collecting duct carcinoma: a systematic review and the McMaster experience. Current Oncology. June 2013; 20(3):e223-32. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3671029.

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