Rare Infectious Disease News

Disease Profile

Richter syndrome

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

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ICD-10

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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)

Richter transformation

Categories

Rare Cancers

Summary

Richter syndrome is a rare condition in which chronic lymphocytic leukemia (CLL) changes into a fast-growing type of lymphoma. Symptoms of Richter syndrome can include fever, loss of weight and muscle mass, abdominal pain, and enlargement of the lymph nodes, liver, and spleen. Laboratory results may show anemia and low platelet counts (which can lead to easy bleeding and bruising).[1][2]

Treatment

Monoclonal antibodies (MABs) are a type of biological therapy. They are man-made proteins that target specific proteins on cancer cells. MABs are a fairly new treatment for cancer. Doctors often use the MAB drug called rituximab along with chemotherapy and steroids to treat Richter syndrome. Researchers in a trial called the CHOP-OR study are studying whether a new biological therapy similar to rituximab can make CHOP chemotherapy work better. The new biological therapy drug is called ofatumumab (Arzerra). People who have been recently diagnosed with Richter syndrome can participate in this study. The study has two parts. First, patients have ofatumumab with CHOP chemotherapy to eliminate the lymphoma (this is called induction treatment). They then have more ofatumumab on its own to try to stop the lymphoma from coming back (this is called maintenance treatment). CLICK HERE to learn more about this study.

Stem cell transplant is another way of treating Richter syndrome. While only a few people have undergone stem cell transplant for treatment of this disease, so far it has appeared to work quite well. The disease was controlled for longer than in people having normal dose chemotherapy. However, because stem cell transplants have serious side effects and complications, they are only suitable for a small group of people. More research is needed before we can truly find out how well stem cell treatment works for people with Richter syndrome.[3]

A recent study showed that a chemotherapy regimen called OFAR (a combination of oxaliplatin, fludarabine, cytarabine, and rituximab) had significant antileukemic activity in patients with Richter syndrome and relapsed/refractory CLL. Patients who underwent stem cell therapy as postremission therapy had even more favorable outcomes.[4]

Management Guidelines

  • The American Cancer Society provides information about the treatment of Richter syndrome within a report on chronic lymphocytic leukemia. Click on the link above to access this information.
  • The National Cancer Institute (NCI) provides information related to the management of Richter syndrome. Information about treatment of adult non-hodgkin lymphoma and chronic lymphocytic leukemia can be accessed at the above links.

    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

          General 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 Richter syndrome. Click on the link to view a sample search on this topic.

              References

              1. Richter syndrome. National Cancer Institute: Dictionary of Cancer Terms. https://www.cancer.gov/dictionary/?CdrID=489396. Accessed 1/3/2014.
              2. Leukaemia & Lymphoma Research. Transformation of CLL (Richter’s Syndrome and Prolymphocytic transformation). Last revised: 08/2011; https://leukaemialymphomaresearch.org.uk/sites/default/files/transformed_cll__aug_2011__0_0.pdf. Accessed 1/3/2014.
              3. Cancer Research UK. Richter's syndrome.
              4. Tsimberidou AM, Wierda WG, Wen S et al. Phase I-II clinical trial of oxaliplatin, fludarabine, cytarabine, and rituximab therapy in aggressive relapsed/refractory chronic lymphocytic leukemia or Richter syndrome. 2013 Oct; 13(5):568-74. https://www.ncbi.nlm.nih.gov/pubmed/23810245. Accessed 1/3/2014.

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