Rare Gastroenterology News

Disease Profile

Adult T-cell leukemia/lymphoma

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)

ATLL; Adult T-cell leukaemia; Adult T-cell leukaemia/lymphoma (HTLV-1 positive);

Categories

Blood Diseases; Skin Diseases

Summary

Adult Tcell leukemia/lymphoma (ATL) is is a rare and aggressive T-cell lymphoma that is linked to infection by the human T-cell lymphotropic virus 1 (HTLV-1).[1][2] The exact mechanism by which HTLV-I infection causes the ATL is unknown. The clinical features of ATL include generalized swelling of the lymph nodes (lymphadenopathy), increased liver and spleen size (hepatosplenomegaly), immunosuppression, high levels of calcium in the blood, lytic bone lesions (spots that appear as “holes” on a standard bone x-ray), and skin lesions. There are four basic clinical variants of ATL: acute (60% of cases), lymphomatous (20 % of cases), chronic (10% of cases) and smoldering (10% of cases).[1] The best treatment for these patients is unclear and patients should be enrolled in clinical trials whenever possible. Medication may include CHOP chemotherapy (cyclophosphamide, doxorubicin, vincristine and prednisone) or EPOCH (etoposide, vincristine, doxorubicin, cyclophosphamide and prednisone). In some patients, a bone marrow transplant may be recommended.[2][3]

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

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

References

  1. Freedman AS & Aster JC. Clinical manifestations, pathologic features, and diagnosis of adult T cell leukemia-lymphoma. UpToDate. March 29, 2016; https://www.uptodate.com/contents/clinical-manifestations-pathologic-features-and-diagnosis-of-adult-t-cell-leukemia-lymphoma.
  2. O’Connor O A. Getting the Facts. Lymphoma Research Foundation. https://www.lymphoma.org/atf/cf/%7B0363cdd6-51b5-427b-be48-e6af871acec9%7D/htlv.pdf.
  3. Matsuoka M & Tobinai K. Treatment and prognosis of adult T cell leukemia-lymphoma. UpToDate. July 05, 2016; https://www.uptodate.com/contents/treatment-and-prognosis-of-adult-t-cell-leukemia-lymphoma.