Rare Dermatology News

Disease Profile

Pineoblastoma

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

Infancy

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ICD-10

C75.3

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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Categories

Rare Cancers

Summary

Pineoblastoma is a type of cancerous (malignanttumor that grows in a part of the brain known as the pineal gland. It occurs mainly in children. Symptoms of pineoblastoma include a buildup of fluid around the brain (hydrocephalus), headaches, nausea, and difficulty with eye movement. Without treatment, pineoblastomas can cause weakness and difficulty controlling movement. The long term outcome depends on the age at diagnosis, the size of the tumor, and if the tumor has spread outside the brain (metastasized). The cause of pineoblastoma is unknown, but specific inherited genetic variants in two genes, RB1 and DICER1 can increase the risk for a pineoblastoma. Diagnosis is based on the symptoms, clinical exam, and imaging studies. In addition, a biopsy is often done to examine a small piece of tumor tissue under the microscope. Treatment of pineoblastoma includes surgery to remove as much of the tumor as possible, as well as radiation therapy and chemotherapy.[1][2][3]

Symptoms

The following list includes the most common signs and symptoms in people with pineoblastoma. These symptoms may be different from person to person. Some types of cancer have few or no symptoms, and some may only have symptoms in more advanced stages. This list does not include every symptom or feature that has been described in this cancer.

Symptoms of pineoblastoma may include:[1][4]

  • Headaches
  • Nausea and vomiting
  • Trouble with eye movements
  • Excess fluid buildup around the brain (hydrocephalus)

Pineoblastoma usually occurs in children, but may occur in adults as well. As the tumor grows, it can cause weakness and trouble controlling movements. The long term outcome depends on how early the cancer is diagnosed, the size of the tumor, and whether the tumor has spread outside the brain.[5]

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
100% of people have these symptoms
Pinealoma
0010799
80%-99% of people have these symptoms
Headache
Headaches
0002315
30%-79% of people have these symptoms
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances

[ more ]

0000708
Increased intracranial pressure
Rise in pressure inside skull
0002516
Memory impairment
Forgetfulness
Memory loss
Memory problems
Poor memory

[ more ]

0002354
Progressive neurologic deterioration
Worsening neurological symptoms
0002344
5%-29% of people have these symptoms
Amaurosis fugax
0100576
Impaired convergence
0000619
Midline brain calcifications
0007045
Papilledema
0001085
Paralysis
Inability to move
0003470
Progressive visual field defects
0007987
Reduced visual acuity
Decreased clarity of vision
0007663
Retinoblastoma
0009919
Seizure
0001250
Sensory neuropathy
Damage to nerves that sense feeling
0000763
1%-4% of people have these symptoms
Lethargy
0001254

Cause

The exact cause of pineoblastomas is unknown. Most occur by chance (sporadic cancer). Rare cases of pineoblastoma are related to inherited genetic variants in either the RB1 or DICER1 gene. Variant in these genes increase the risk for pineoblastoma and other cancers. However, not everyone who has an RB1 or DICER1 gene variant will develop cancer.[2][3]

Diagnosis

A pineoblastoma is diagnosed based on the symptoms, a clinical exam, and imaging studies such as an MRI or CT scan of the head. In addition, a small piece of the tumor may be removed for study under a microscope (biopsy).[2][3]

Treatment

Treatment for pineoblastoma typically involves surgery, radiation therapy, and chemotherapy. Depending on the size of the tumor, chemotherapy or radiation may be done first to help shrink the tumor.[2][4][6]

Specialists involved in the care of someone with a pineoblastoma may include:

  • Radiologist
  • Neurosurgeon
  • Neurologist
  • Medical oncologist
  • Radiation oncologist

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. Parikh KA, Venable GT, Orr BA, et al. Pineoblastoma-The Experience at St. Jude Children's Research Hospital. Neurosurgery. 2017; 81(1):120-128. https://pubmed.ncbi.nlm.nih.gov/28327927.
  2. Tian Y, Liu R, Qin J, et al. Retrospective Analysis of the Clinical Characteristics, Therapeutic Aspects, and Prognostic Factors of 18 Cases of Childhood Pineoblastoma. World Neurosurg. 2018; 116:e162-e168. https://pubmed.ncbi.nlm.nih.gov/29709740.
  3. PDQ® Pediatric Treatment Editorial Board. PDQ Childhood Medulloblastoma and Other Central Nervous System Embryonal Tumors Treatment. Bethesda, MD: National Cancer Institute. Updated May 28, 2020; https://www.cancer.gov/types/brain/hp/child-cns-embryonal-treatment-pdq. Accessed 9/17/2020.
  4. Mynarek M, Pizer B, Dfour C, et al. Evaluation of age-dependent treatment strategies for children and young adults with pineoblastoma: analysis of pooled European Society for Paediatric Oncology (SIOP-E) and US Head Start data. Neuro Oncol. 2017; 19(4):576-585. https://pubmed.ncbi.nlm.nih.gov/28011926.
  5. Deng X, Yang Z, Zhang X, et al.. Prognosis of Pediatric Patients with Pineoblastoma: A SEER Analysis 1990-2013.. World Neurosurg.. 2018; 118:e871-e879. https://pubmed.ncbi.nlm.nih.gov/30031180.
  6. Schultz KAP, Williams GM, Kamihara J, et al. DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies. Clin Cancer Res. 2018; 24(10):2251-2261. https://pubmed.ncbi.nlm.nih.gov/29343557.

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