Pineoblastoma

Rare Primary Care News

9369

Rare Primary Care News

Disease Profile

Pineoblastoma

US Estimated

Europe Estimated

Age of onset

Infancy

ICD-10

C75.3

Inheritance

A small number of pineoblastomas may be caused by an inherited predisposition, meaning that changes (variants) in a gene inherited from a parent may increase the chance that a pineoblastoma could develop. Inherited genetic variants in either the RB1 gene or the DICER1 gene can increase the risk for developing a pineoblastoma.^[3]^[6] However, not everyone who has an RB1 or DICER1 gene variant will develop cancer.

Gene variants in the RB1 or DICER1 gene are inherited in an autosomal dominant pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition. The variant can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic variant (de novo) and there is no history of this condition in the family.

Each child of an individual with an autosomal dominant gene variant has a 50% or 1 in 2 chance of inheriting the variant and the inherited cancer predisposition. People who inherit a dominant cancer predisposition will be at increased risk for cancer, but there is also a chance that they may never develop cancer. The factors that influence who will get cancer and who won't are still not well understood.

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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.

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.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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.

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.

Not applicable

Summary

Pineoblastoma is a type of cancerous (malignant) tumor 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

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.
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.
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.
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.
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.
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.

Rare Primary Care News

Rare Primary Care News

Rare Primary Care News

Infancy

C75.3

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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.

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.

X-linked recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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.

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.

Not applicable

Categories

Summary

Symptoms

Cause

Diagnosis

Treatment

Learn more

Where to Start

In-Depth Information

References

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.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.