Rare Endocrinology News

Disease Profile

Pineocytoma

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

-

ICD-10

D44.5

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)

Pinealocytoma; Pinealoma

Summary

A pineocytoma is a tumor of the pineal gland, a small organ in the brain that makes melatonin (a sleep-regulating hormone). Pineocytomas most often occur in adults as a solid mass, although they may appear to have fluid-filled (cystic) spaces on images of the brain. Signs and symptoms of pineocytomas include headaches, nausea, hydrocephalus, vision abnormalities, and Parinaud syndrome.[1] Pineocytomas are usually slow-growing and rarely spread to other parts of the body.[2] Treatment includes surgery to remove the pineocytoma; most of these tumors do not regrow (recur) after surgery.[3]

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
Headache
Headaches
0002315
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Increased intracranial pressure
Rise in pressure inside skull
0002516
Memory impairment
Forgetfulness
Memory loss
Memory problems
Poor memory

[ more ]

0002354
Nausea and vomiting
0002017
30%-79% of people have these symptoms
Abnormal eyelid morphology
Abnormality of the eyelid
Abnormality of the eyelids

[ more ]

0000492
Altitudinal visual field defect
0030531
Episodic ataxia
0002131
Increased CSF protein
0002922
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
5%-29% of people have these symptoms
Difficulty walking
Difficulty in walking
0002355
Hearing abnormality
Abnormal hearing
0000364

Treatment

Because pineocytomas are quite rare, there are no consensus guidelines on the best treatment for these tumors.[4] However, surgery to remove the entire tumor is considered the standard treatment. Because these tumors are located deep in the brain, it is important that the risks of surgery be carefully considered in each person.[3] Radiation therapy is sometimes used following surgery to destroy any tumor cells that may remain, but the benefit of this additional treatment is questionable.[4]

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 National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

      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.

        References

        1. Moschovi M, Chrousos GP. Pineal Gland Masses. UpToDate. October 2013; https://www.uptodate.com/contents/pineal-gland-masses.
        2. Gaillard F, Jones J. Masses of the pineal region: clinical presentation and radiographic features. Postgraduate Medical Journal. 2010; 86:597-607. https://www.ncbi.nlm.nih.gov/pubmed/20971711.
        3. Dahiya S, Perry A. Pineal Tumors. Advances in Anatomic Pathology. 2010; 17:419-427. https://www.ncbi.nlm.nih.gov/pubmed/20966647. Accessed 12/13/2011.
        4. Clark AJ, Ivan ME, Sughrue ME, Yang I, Aranda D, Han SJ, Kane AJ, Parsa AT. Tumor control after surgery and radiotherapy for pineocytoma. Journal of Neurosurgery. 2010; 113:319-324. https://www.ncbi.nlm.nih.gov/pubmed/20136388. Accessed 12/13/2011.

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