Rare Medical News

Disease Profile

Myxoid liposarcoma

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

C49.9

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)

MRCLS; Myxoid/round cell liposarcoma; Myxoliposarcoma

Categories

Rare Cancers

Summary

Myxoid liposarcoma is a subtype of liposarcoma, tumors that arise in the body’s fat tissue. Other categories of liposarcoma include well-differentiated; dedifferentiated; round cell; and pleomorphic.[1] Round cell and myxoid liposarcomas are sometimes grouped together into one category known as myxoid/round cell liposarcoma (MRCLS).[2] In adults, liposarcomas are the most common type of soft tissue sarcoma. The cause of liposarcomas is not well-established but trauma has been implicated in some cases. Myxoid liposarcomas generally arise in the lower extremities. Symptoms may vary depending on the location of the tumor but may include swelling; decreased range of motion; numbness; fatigue; abdominal pain; weight loss; nausea; and vomiting. Many patients with liposarcoma have no symptoms until the tumor is large and interferes with neighboring structures. When possible, surgical removal is the preferred treatment. In some cases, additional therapy may be indicated.[1] The prognosis is generally favorable for those with a low grade myxoid liposarcoma with a small percentage of round cells. A significant round cell component is associated with a poorer prognosis.[1][2] Although these tumors rarely spread, they can recur if not completely removed.[1]

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
80%-99% of people have these symptoms
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin

[ more ]

0001482
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Gastrointestinal dysmotility
0002579
Percent of people who have these symptoms is not available through HPO
Myxoid liposarcoma
0012268
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.

    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.

      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.
      • 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 database for information on rare diseases and orphan drugs.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

        References

        1. Schwartz, Robert A.. Liposarcoma. Medscape. Feb. 4, 2016; https://emedicine.medscape.com/article/1102007-overview. Accessed 6/24/2016.
        2. Singer, Samuel. Myxoid/round cell liposarcoma. Orphanet. Jan, 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=99967. Accessed 6/24/2016.