Rare Gastroenterology News

Disease Profile

Papillary glioneuronal tumors

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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Summary

Papillary glioneuronal tumors (GNTs) are rare tumors. They may occur in any age (4–75 years), but are more common in young patients.[1] Symptoms may include seizures, headaches, bleedings, and focal neurological deficits, impairing specific and small parts of the body.[1][2] According to the 2016 WHO classification of CNS tumors the papillary GNTs are considered WHO grade I tumors.[3] The grading of a tumor refers about how the tumor tissue look under a microscope, and indicates how quickly a tumor is likely to grow and spread. In grade 1 tumors, the tumor cells and the organization of the tumor tissue appear close to normal and they tend to grow and spread slowly.[4] Papillary GNTs are usually located in the cerebral hemispheres (the two halves of the brain) next to the cerebral ventricles, the fluid-filled cavities of the brain. They are mixed tumors that contain both neural cells (neurons), which transmit the impulses in the brain, and glial cells (astrocytes) that help support the neurons. Treatment is done with surgery to remove the tumor and usually results in a good prognosis with long-term survival.[1]

References

  1. Soffietti R, Rudà R & Reardon D. Rare glial tumors. Handb Clin Neurol. 2016; 134:399-415. https://www.ncbi.nlm.nih.gov/pubmed/26948368.
  2. Rezaee A. Papillary glioneuronal tumour. Radiopaedia. https://radiopaedia.org/articles/papillary-glioneuronal-tumour.
  3. Louis DN, Perry A, Reifenberger G et al. Acta Neuropathol. WHO Central Nervous System Tumor Classification. 2016; https://braintumor.org/wp-content/assets/WHO-Central-Nervous-System-Tumor-Classification.pdf.
  4. Tumor Grade. National Cancer Institute. 2013; https://www.cancer.gov/about-cancer/diagnosis-staging/prognosis/tumor-grade-fact-sheet.