Pineoblastoma
- sunshine4cancerkid
- Aug 7
- 22 min read
Updated: Aug 10
Table of Contents
Table Of Contents....................................................................................................................................1
Abstract...................................................................................................................................................3
Introduction........................................................................................................................................... 4
Brain and Spinal Cord Tumors................................................................................................................ 4
Pineal Gland ........................................................................................................................................... 4
What is Pineoblastoma? ..........................................................................................................................4
What causes Pineoblastoma?...................................................................................................................5
Discussion...............................................................................................................................................6
Why Pineoblastoma?............................................................................................................................... 6
Diagnosing Patients................................................................................................................6
Signs and Symptoms of Pineoblastoma ..................................................................................................6
Diagnostic Tools ..................................................................................................................................... 7
Medical Professions....................................................................................................8
Neurosurgeons......................................................................................................................................... 8
Oncologists ............................................................................................................................................. 8
Neuro Oncologists .................................................................................................................................. 8
Pediatric Oncologists ..............................................................................................................................9
Radiation Oncologists..............................................................................................................................9
Pathologists..............................................................................................................................................9
Neurologists.............................................................................................................................................9
Supportive & Rehabilitation Care Specialists.........................................................................10
Neuro-Oncology Nurses....................................................................................................................... 10
Physical Therapists......................................................................................................................... 10
Occupational Therapists..................................................................................................................10
Speech & Language Pathologists.......................................................................................................... 10
Child Life Specialists...................................................................................................................... 10
Oncology Social Workers............................................................................................................... 11
Genetic Counselors......................................................................................................................... 11
Treatments.................................................................................................................................................. 11
Understanding Pineoblastoma.........................................................................................................11
Early Diagnostic Indicators.............................................................................................................11
Importance of Early Detection ............................................................................................................. 12
Difficulties in Early Diagnosis........................................................................................................12
Biomarker for Early Clues.............................................................................................................. 12
Surgical Treatments............................................................................................................................... 12Pineoblastoma: A Journey of Uncovering The Truth 2
Surgical Removal (Crainotomy)..................................................................................................... 12
Minimally Invasive (Stereotactic Surgery)..................................................................................... 13
Radiation Therapy................................................................................................................................. 13
Traditional Radiation (EBRT).........................................................................................................13
Focused Radiation (Stereotactic Radiosurgery)..............................................................................13
Proton Beam Therapy..................................................................................................................... 13
Chemotherapy .......................................................................................................................................13
Common Chemotherapy Drugs...................................................................................................... 13
Targeted Delivery Techniques ........................................................................................................14
Supportive & Palliative Care ................................................................................................................14
Mental and Emotional Support ...................................................................................................... 14
Palliative Treatment and Symptom Managing ...............................................................................14
Statistics.............................................................................................................................................. 14
Prevalence..............................................................................................................................................14
Morality Rates........................................................................................................................................15
Recurrence............................................................................................................................................. 15
Genetics................................................................................................................................................. 16
Pineblastoma Treatment Outcomes....................................................................................................... 16
Impacts................................................................................................................................................. 16
Introduction & Physical Impacts........................................................................................................... 16
Endocrine Impacts...........................................................................................................................16
Cognitive Impacts........................................................................................................................... 17
Emotional Impacts.................................................................................................................................17
Social Impacts........................................................................................................................................17
Long Term Impacts......................................................................................................................... 18
Conclusion.............................................................................................................................................18
Bibliography (MLA 9th Gen)...........................................................................................................19
Abstract
Pineoblastoma is very rare and it is a grade 4 cancer. It mostly affects kids under 10, and is known as a pediatric brain tumor, even though it can sometimes affect adults too. Pineoblastoma can be caused by genetic variations like RB1-Mutated, DICER1-Mutated, MYC/MYCN-Amplified, and MAPK Pathway-Related. However, no environmental conditions can cause this brain tumor, like a person being exposed to radiation or even harmful substances.
People who are diagnosed with pineoblastoma can experience headaches, fatigues, frequent sensation of vomiting, and have trouble with vision. There are many diagnostic tools that can be used to detect pineoblastoma in people. The most popular tool is the MRI screening which can provide detailed images of the brain, allowing doctors to quickly analyze and spot the pineoblastoma. Many more technological tools like, CT, spinal imaging, physical & neurological tests, lumbar puncture, genetic testing and a biopsy.
There are many healthcare professionals that help treat pineoblastoma. These can include: neurosurgeons, oncologists (neuro-oncologists, pediatric oncologists, radiation oncologists), pathologists, and neurologists. Medical professionals like: Neuro-Oncology Nurses, Physical Therapists, Occupational Therapists, Speech-Language Pathologists, Child Life Specialists, Oncology Social Workers, and Genetic Counselors. These specialists and many more, help treat patients who are diagnosed with pineoblastoma.
The success rate for pineoblastoma is around 60% for patients who are around the age of 4+. However, there is a 10% success rate for those who are under the age of 4 years old. Sometimes, pineoblastoma can go undiagnosed, because it occurs deep, into the middle of the brain. Now, there are many ways to treat pineoblastoma and those include: Surgical Treatments (Surgical Removal, & Stereotactic Surgery), Radiation Therapy (External Beam Radiation Therapy, Stereotactic Radiosurgery, & Proton Beam Therapy), and Chemotherapy (Common Chemotherapy Drugs & Targeted Delivery Techniques).
We chose to research pineoblastoma because of our passion for neuroscience and pediatric oncology. As students we’re all very interested in the brain complexity and in helping children affected by these serious illnesses we wanted to explore this rare and aggressive cancer that mostly impacts young children. Through this project we hoped to better understand the biology, symptoms along with treatments of pineoblastoma while learning how future advancements in medicine could improve care. Our goal is to raise awareness and contribute to ongoing efforts that support early diagnosis and better treatment outcomes. Finally we hope for a long-term survivorship for patients and families affected by this disease.
Introduction: An Intro to Pineoblastoma
Brain & Spinal Tumors
Having brain or spinal tumors can be rare as only an estimated 79,000 people, living in the US, have been reported to have developed one of those tumors (Columbia University). These brain and spinal tumors can start anywhere in the body, and they can eventually spread to the brain. These can include: lung cancer, breast cancer, melanoma, and colon cancer. To go in more depth, tumors are defined by having an irregular pattern in cells, and this can happen when they continuously divide more & when the cycle doesn’t impact them as they just divide more (Columbia University).
Tumors can be classified into 2 cases: benign or malignant. Benign tumors are different as they only expand in a region and don’t spread to the rest of the brain. There is also a slight chance that they come back after many treatments. On the other hand, malignant tumors can quickly expand to other regions in the brain, and they are denoted by being cancerous. There are many types of brain and spinal tumors, but the one that is going to be focused on is the pineal tumors. They are rare, and can be both classified as benign and malignant. Although, mostly children and teenagers develop these tumors.
Pineal Gland
This is a part of the brain where pineoblastoma can occur. The name pineal gland comes from its structure which looks like a pinecone. The pineal gland has so many names, it can be called the pineal body or even epiphysis cerebri. It is a small structure and is found underneath the corpus callosum. The pineal gland is part of a system called the endocrine system, which is denoted by a collection that has all glands and some organs, whose role is to make hormones, etc.. The pineal gland is responsible for making the hormone, melatonin.
Pineoblastoma
Pineoblastoma can be characterized as a grade 4 cancer, as it can spread rapidly through the brain. It originates from the pineal gland and there is a slight chance that it can come back even after completing many treatments. Children who are under 10 years old, have an increased risk of developing pineoblastoma, and this is why many people denote pineoblastoma as a pediatric brain tumor as it can mostly occur in kids (Barrow Neurological Institute). However, the chance of developing pineoblastoma is extremely low at 0.1% - 0.3 %, and any tumor that occurs in the pineal gland can make up 0.2% of all tumors that occur in the brain, overall.
Depending on the genetic variation, the effectiveness of pineoblastoma can vary.
RB1-Mutated ~ This genetic variation occurs in a gene called the RB1 gene, and those who have this, are at a greater risk of developing pineoblastoma.
DICER1-Mutated ~ This genetic variation occurs in a gene called the DICER1 gene and those who have this, are at a greater risk of developing pineoblastoma as well as other tumors along with it.
MYC/MYCN-Amplified ~ This genetic variation occurs when your body produces genes that are called MYC or MYCN, rapidly (more than it can use). This causes other cells in the body to expand quickly and it can escalate to the rest of the body.
MAPK Pathway-Related- This genetic variation occurs in the MAPK pathway, and this is harmful as it can send cells a signal, telling them to grow rapidly. Having way more signals sent, can cause the tumor to expand and spread to the rest of the brain.
Causes of Pineoblastoma
There has been ongoing research to know the exact causes of pineoblastoma. Many researchers are thinking that the cause of pineoblastoma can include, anywhere from genetic variations in genes to processes that occur within a cell. As children are at an increased risk of developing pineoblastoma, some say that it can happen anytime to the developing brain because it can be susceptible to having an irregular growth pattern in the cells. The RB1 gene is a primary factor of getting pineoblastoma, however on the other hand, the genetic variation that happens in the DICER1, is less commonly known because there isn’t much chance of having this.
One thing about pineoblastoma is that there are no environmental factors that contribute to this brain tumor, not even like being exposed to hazardous chemicals or radiation. Lastly, during pregnancy, some genetic variations can be passed down to the offspring, resulting in the child having a possibility of getting pineoblastoma in the future. There is a lot that we haven’t fully understood about this particular brain tumor, and it is important as it allows us to research ways to prevent it/treat it.
This paper contains research that shows the journey of uncovering what pineoblastoma is and if there are any possible treatments/ongoing research about it. Each section is dedicated to explaining specific aspects of pineoblastoma.
Discussion: Why Study Pineoblastoma?
Pineoblastoma is a rare and aggressive embryonal tumor of the pineal region primarily affecting children. It is a difficult-to-treat pediatric brain cancer that has traditionally been viewed and treated as a single disease. However, over the past five years, pineoblastoma has been recognized as comprising four major subtypes driven by unique oncogenic alterations, affecting different age groups and leading to distinct clinical outcomes.
Current standard treatment comprises maximal surgical resection, adjuvant radiation, and systemic chemotherapy, which, while somewhat effective, often results in major neurocognitive decline.
The rarity of pineoblastoma has resulted in no clinical trials solely for this disease. Historically, due to their histologic similarity to other central nervous system embryonal tumors, these tumors have been treated on trials for high-risk medulloblastoma and the tumor previously termed central nervous system primitive neuroectodermal tumors (CNS-PNET) or off trial using the same therapies.
Most of these series have included a relatively small number of patients, making meaningful clinical conclusions difficult to ascertain; as such, the optimal treatment for pineoblastoma remains unknown.
The outcome of young children is starkly different compared to older patients with a dismal outcome regardless of therapeutic approach. This strongly supports the need for age- and molecular-based risk stratification for future pineoblastoma trials.
Diagnosing Patients
Signs and Symptoms
Patients with PB most commonly present with findings of elevated intracranial pressure (ICP)(headache, nausea/vomiting, and decreased level of consciousness) as a result of obstructive hydrocephalus, the buildup of cerebrospinal fluid in the brain, from compression of the cerebral aqueduct by the tumor mass.
Thus, common symptoms of PB include: nausea, vomiting, ocular disturbances, headaches, fatigue, problems with coordination; weakness on one side of the body; seizures; diminished growth rate; and abnormal pupils, all of which are related to hydrocephalus.
Patients may also exhibit Parinaud syndrome (upgaze paralysis, convergence nystagmus, and near-light dissociation) as a result of compression of the dorsal midbrain structures.
Diagnostic Tools
One of the tools that are used to detect pineoblastoma is by using Magnetic Resonance Imaging (MRI). They help provide pictures of the brain, which can be used by doctors to see any abnormal growth in the brain. By this, doctors can estimate where the tumor has originated and details like, the size, shape, etc.
Another tool that can be used is called the Computed Tomography (CT), and this tool uses x-rays to scan detailed images of the brain, which can also be used to see the tumor and its location.
A method called the lumbar puncture can be implemented which is used to take a small amount of a liquid called the cerebrospinal fluid. This technique uses a small needle that goes into the deep part of the lower section in the brain (Barrow Neurological Institute). Unlike the previous methods, this technique is used to see if your tumor is expanding rapidly through the brain.
Similarly, certain tests like physical and neurological tests can be conducted to detect the possibility of developing pineoblastoma. The examination starts off by the doctor asking about the symptoms that a patient is experiencing, if a patient has any allergies or anything serious that needs to be considered, and also how the patient is feeling overall. The next portion can include: doing eye exercises, testing the patient's reflexes & strength, etc.
This goes back to the MRI screening, a doctor may request a patient to get a spinal imaging, which uses MRI technology but for the spinal cord.
Next, a biopsy may be required after the tumor has been identified in the patient. A biopsy is defined by, when a small piece of the tumor in the patient’s brain, is taken for sampling. Then, it can be sent to a pathologist who puts it under a microscope to see the cells that make up this tumor (Barrow Neurological Institute).
Lastly, during pregnancy, genetic variations can be passed from the mother to the offspring. Certain genetic variations can be at risk of causing the patient to have a slight chance of developing pineoblastoma. A doctor might conduct some genetic testings to the patient, and the reports can be used to identify pineoblastoma.
Medical Professionals Involved in Treating Pineoblastoma
Pineoblastoma is a rare and aggressive form of brain cancer, due to the fact it’s normally located very deeply in the brain near the pineal gland it’s very hard to treat/reach. It mostly affects children along with young adults. In order to help treat a patient with pineoblastoma doctors from many different specialties need to work together as a team. This includes doctors in surgery, treatment planning and even support for the family. Each person on the team plays a very important role in making sure the patient is very well treated.
Neurosurgeons
Neurosurgeons are doctors who perform surgery mainly on the brain and nervous system, due to the fact that when a patient is diagnosed with pineoblastoma a neurosurgeon is one of the first specialists involved. They are mainly responsible for resecting as much of the tumor as possible, and due to the fact the pineal gland is found very deep in the brain the surgery is very complex requiring high amounts of expertise. In some cases the tumor could block the flow of fluid in the brain which causes a pressure build up, to be fixed neurosurgeons need to place a tube called a shunt or do a small surgery called an ETV (endoscopic third ventriculostomy) to help make sure the fluid can be drained normally. To become a neurosurgeon one needs to finish medical school receiving their MD (Doctor of Medicine), then do about 7 years of residency. Many also train more in a subspeciality of pediatric neurosurgery. Neurosurgeons usually earn between $600,000 and $800,000 annually (MGMA).
Oncologists
Neuro-Oncologists
Neuro-oncologists are doctors who specialize in treating brain and spinal chord cancers. For patients with pineoblastoma they are in charge of deciding the course of treatment which will work best based on the stage of cancer whether it’s chemotherapy drugs or even immunotherapy base medicines. They also coordinate with other specialists like radiologists and pathologists to make sure the best care is given to the patient. To become a neuro-oncologist you need a medical degree (either MD or DO), then residency in either neurology or internal medicine and lastly a fellowship in neuro-oncology. Their average yearly income is between $250,000 and $400,000.
Pediatric Oncologists
Since pineoblastoma is mainly affecting children, pediatric oncologists play a key role in the treatment of many patients. They mainly oversee the effect of some of the more harsher treatments such as chemotherapy on children with dosing and even monitoring long term effects. Pediatric oncologists also work with genetic counselors to see if hereditary retinoblastoma or DICER1 syndrome is the parent, which mainly checks to see if cancer is present in the patient's family history. To become a pediatric oncologist after completing med school, you need to do a residency in general pediatrics and then a fellowship in pediatric hematology oncology. They usually earn about $230,000 to $300,000 yearly (Salary.com).
Radiation Oncologists
Radiation oncologists are the experts in using radiation to help treat cancer. For pineoblastoma specifically a treatment called craniospinal irradiation (CSI) is used which sends radiations into the brain and spin. Proton therapy can also be used which is a newer type of treatment better for children as it targets the tumor more precisely which limits the exposure of radiation to healthy brain tissue. To become a radiation oncologist after completing 4 years of med school, specialists go through a 4 year residency in radiation oncology and then become board certified. They make on average $400,000 to $500,000 a yearly.
Pathologists
Pathologists are the doctors that use laboratory testing to examine tissue in order to make a confirmed diagnosis. For pineoblastoma they normally study the tumor sample to try and identify its grade/genetic features, like whether it has changes in the RB1 or DICER1 genes. Some pathologists even specialize in brain tumors, there called neuropathologists. To become a pathologist after medical school, specialists need to complete a pathology residency and often a fellowship in neuropathology. The average salary yearly for a pathologist is around $300,000 to $400,000.
Neurologists
Neurologists are doctors who aid in checking the patients brain function before,after, and during treatment. They do tests like lumbar punctures (spinal taps) to check if the tumor has spread through the fluid in the brain and spine while monitoring for neurotoxicity caused by any treatments. Pediatric neurologists can also check if treatment is affecting the patient's development and even their behavior. To become a neurologist after medical school, you need to complete neurology residency and become board certified. Their average salary is about $220,000 to $300,000 a year.
Supportive and Rehabilitation Care Specialists
Apart from the doctors that focus mainly on the treatment of the tumor, there are other healthcare workers who work very hard to improve their patients' comfort and overall wellbeing when going through such a difficult time. These specialists are also very important for the long term recovery of the patient
Neuro-Oncology Nurses
These specialized nurses who mainly help with assisting in chemotherapy,monitoring patient vitals while also being there for emotional support of the patient. Some more advanced nurses called APRN’s have training in pediatric along with oncology nursing.Their average salary is about $80,000 to $120,000 yearly.
Physical Therapists
Physical therapists are specialists who help patients regain their strength along with movement after surgery or in case the tumor causes any weaknesses. They create special exercise programs called rehabilitation plans based on the needs of the patient. They need a Doctor of Physical Therapy (DPT) degree and earn about $95,000 per year.
Occupational Therapists
Occupational therapists are used to help patients regain their motor skills if affected during surgery/treatment. In extreme cases they also help with performing daily activities like dressing. This is very helpful for children especially if their brain was affected during treatment.Most OTs have a masters or doctoral degree and earn around $90,000 per year.
Speech-Language Pathologists
Speech-language specialists help children that might have problems in speaking or swallowing (dysphagia) after surgery or radiation to the brain stem area which controls these functions. These specialists need a masters degree in speech-language pathology and clinical certification (CCC-SLP) are required. Their median salary is around $89,000.
Child Life Specialists
Child life specialists use therapeutic play and counseling to help pediatric patients emotionally process their illness and to help them cope with treatments. They have at least a bachelor's degree in child development and receive certification (CCLS). They can earn between $55,000 to $65,000.
Oncology Social Workers
Social workers provide emotional support and help connect families to financial help if needed. They play a key role in addressing a lot of the stress of families during such a difficult time in their life.They are licensed clinical social workers (LCSWs) with a Master of Social Work (MSW) degree with salary ranges from $60,000 to $75,000 yearly.
Genetic Counselors
Genetic counselors play a key role if there is a chance the cancer is hereditary with cases like RB1 or DICER1 mutations. They will talk to the family, making them aware of the situation while ordering tests and explaining results.They have a master’s degree in genetic counseling and national certification and an average yearly salary of $90,000.
Treatments for Pineoblastoma
Understanding Pineoblastoma and Its Treatment Needs
Pineoblastoma is a rare and aggressive type of brain cancer which originates in the pineal gland and most commonly affects children and young adults. Due to its deep location inside the brain along with its tendency to spread through the cerebrospinal fluid (CSF), finding the cancer early on is important. This type of brain tumor can grow very fast and can spread to surround the brain/spine. So the sooner specialists can detect the tumor the faster they can begin treatment to help stop the tumor from spreading. However finding pineoblastoma early is not easy as it grows so deep inside the brain, signs of the tumor don’t even show until the tumor is big enough which is why treating it can be so complex.
Early Diagnostic Indicators
Doctors mainly use tools like MRIs (Magnetic Resonance Imaging) and CT scans to check for brain tumors. They also look at the patient's symptoms such as headaches, nausea, or even changes in vision which may happen when there is pressure in the brain. Sometimes if a child is at higher risk like when having an RB1 or DICER1 gene mutation they could be watched more closely. Scientists are also studying special signals in the body called biomarkers that may help doctors find tumors earlier and these markers could show up in a blood test or even spinal fluid sample. New technologies for example artificial intelligence (AI) are being tested to help read brain scans faster while also spotting tumors early.
(Source: Barrow Neurological Institute; Pediatric Brain Tumor Foundation)
The Importance of Early Detection
Why Early Detection Matters
Detecting pineoblastoma at an early stage allows doctors to start treatment before it starts to spread into other parts of the brain and spin. Since pineoblastoma is a very fast growing tumor, delays in diagnosing can limit treatment choices and also lower survival chances.
Difficulties in Early Diagnosis
Early symptoms of pineoblastoma like headaches, nausea, vision problems, or fatigue are common in many other conditions and can be mistaken for common sickness. Due to the fact the pineal gland is very deep inside the brain the tumor may not be visible on scans until it's already big in size and putting pressure on the brain.
Using Biomarkers for Earlier Clues
Researchers are now studying cerebrospinal fluid along with genetic markers that could play a role in detecting pineoblastoma earlier on. They are looking for specific indications called biomarkers in the blood or CSF that could reveal pineoblastoma earlier.These markers could include specific proteins or even gene mutations found in the tumor cells.
Surgical Treatments
Surgical Removal (Craniotomy)
The main surgical step in treating pineoblastoma is usually a craniotomy which is a procedure where a part of the skull is opened to remove as much of the tumor as safely as possible. Resecting the tumor completely can be dangerous and hard as the pineal region is very deep while being surrounded by important areas of the brain/spine. Though even removing a small portion of the tumor can help reduce the pressure on the brain and makes follow up treatments like chemotherapy along with radiation more effective.
Minimally Invasive Approaches (Stereotactic Surgery)
In some cases doctors may use a type of surgery called stereotactic surgery which uses surgical instruments along with 3D imaging to guide the instrument to the location of the tumor. This surgery is normally used to take biopsy and sometimes to put shunts into place to help relieve the fluid buildup pressure on the brain. It lets the surgeon be more exact with the surgery and can reduce damage to other parts of the brain.
(Source: St. Jude Children’s Research Hospital; Johns Hopkins Medicine)
Radiation Therapy
Traditional Radiation (External Beam Radiation Therapy)
After surgery external beam radiation therapy (EBRT) is used to destroy remaining cancer cells. It’s a type of radiation that uses high energy beams outside the body to kill off the cancer cells.
Focused Radiation (Stereotactic Radiosurgery)
For tumors that are hard to remove or if they return after surgery a type of radiation called stereotactic radiosurgery is normally used. This method delivers a high dose of radiation directly to the tumor while minimizing the damage to the surrounding brain tissue.
Proton Beam Therapy
Proton therapy is a newer form of radiation that uses positively charged particles to target tumors even more precisely than traditional radiation. It's even better for children with pineoblastoma because it reduces the risk of radiation exposing healthy brain tissue which can help to avoid long term effects.
Chemotherapy
Common Chemotherapy Drugs
Chemotherapy uses strong medicines to kill cancer cells throughout the body. In pineoblastoma for example drugs like vincristine, cisplatin, carboplatin, and cyclophosphamide. They are normally given in cycles after surgery or even before radiation normally depending on the age or condition of the patient.
Targeted Delivery Techniques
Researchers are now testing methods to deliver chemotherapy directly into the brain or spinal fluid (called intrathecal chemotherapy) to help better target the tumor while limiting the side effects. This is still under study/testing but gives hope to the techniques to come.
Supportive and Palliative Care
Palliative Treatment and Symptom Management
If a cure isn’t possible in extreme stages palliative care is normally used, it focuses on making the patient as comfortable as possible. This includes managing pain and nausea along with any other symptoms during or even after treatment.
Mental and Emotional Support
Facing pineoblastoma is very difficult for patients and their families, because of that counselors and child life specialists often give emotional support along with copying strategies to try and make the experience as smooth/well thought as possible. Some families also choose more options like art/music therapy,gentle massages or meditation to help children and them feel emotionally balanced. These should always be done alongside medical treatments not in any way replacing them more as a coping mechanism.
Statistics on Pineoblastoma
Prevalence
Pineoblastoma is defined as an ultra-rare central nervous system (CNS) tumor, total count being less than 0.1% of all pediatric brain tumors. Occurrence of Pineoblastoma is predominant 1 in 10 million children annually. Fewer than 100 new cases are diagnosed worldwide every year. Many pineoblastoma cases develop in children under the age of five, with peak incidence before the age two. CNS tumor cases have resulted to show no consistent gender bias, but some studies may suggest a higher percentage within the male population.
Mortality
Prognosis for pineoblastoma has resulted to be consistently poor, particularly in younger children. The range of 5-year survival rate is around 30-60%, with dependent factors including age at diagnosis, molecular subtype, and the extent of surgical resection. Cases of children at ages below three have resulted to show significantly lower survival rates, usually due to the incapability to properly go through the full-dose craniospinal radiation procedure. Recurrence in pineoblastoma is fairly common, especially in the first three years post-treatment, and is usually difficult or aggressive to properly treat.
Recurrence
Pineoblastoma cases have a high recurrence rate. Many patients experience relapsing of pineoblastoma within the first 12-36 months post-treatment. Recurrent disease usually spreads through the CSF, directly affecting other parts of the brain, including the spinal cord. When the tumor returns, therapeutic options are limited, along with prognosis worsens further. Even with strong second-line treatments, recurrent pineoblastoma is linked with a median survival rate of less than one year.
Genetics
Many genetics studies have identified several molecular subgroups of pineoblastoma, each of them connected with other corresponding outcomes. Tumors that have RB1 gene mutations usually occur in infants and considerably have a worse prognosis. Those with MYC amplification also show high signs of aggressiveness. Contrastingly, DICER1-mutant pineoblastomas could have a better prognosis. Molecular classification has become increasingly essential for risk stratification and in order to guide treatment decisions.
Treatment outcomes
The gross total resection of the tumor combined with craniospinal irradiation and high-dose chemotherapy is the standard of care for pineoblastome.Due to the tumors specific location and early onset in the affected individuals life, absolute resection is quite the challenge. Young children who go through subtotal resection or who are unable to get full radiation doses because of their age limitations usually have poorer outcomes. Few recent clinical trials are exploring targeted therapies and proton beam therapy to improve prognosis and significantly reduce long-term toxicity, but as of now these options are not yet widely accessible.
Impacts of Pineoblastoma
Physical
Pineoblastoma is an aggressive tumor found in the pineal gland of the brain. Immense pressure is caused on the surrounding brain tissue of the gland due to its specified location within the brain. One of the initial and most critical complications of Pineoblastoma is hydrocephalus, which is caused by blockade of cerebrospinal fluid (CSF) flow, which results with elevated intracranial pressure. This then leads to symptoms such as consistent headaching, nausea, vomiting, walking disabilities, and disturbances in one's eye view. Some patients may exhibit Parinaud’s syndrome, defined as having a vertical gaze palsy, and stunted, dilated pupils, due to the compression of the tectal plate. In order to alleviate CSF buildup, neurosurgical procedures (ex.ventriculoperitoneal shunting, endoscopic third ventriculostomy) are usually required as immediate interventions or solutions.
Endocrine
Treatments for curing Pineoblastoma, including craniospinal radiation and high-dose chemotherapy, often end up damaging the hypothalamic-pituitary axis, and causing hormonal imbalances. Surviving patients frequently deal with growth hormone deficiency, hypothyroidism, adrenal deficiency, and late or absent puberty. In many specific cases, a long term consequence includes becoming infertile, especially child patients who were given treatment in initial development stages. These complications need long-term endocrinological observation and therapy for hormone replacement, which end up adding more medical management to a patient's life post-treatment.
Cognitive
Effects of pineoblastoma and its corresponding treatments are mostly neurocognitive, especially in younger patients with developing brains. The resulting damage from cranial radiation procedures and chemotherapy procedures could result in long-term issues with memory, attention, executive functioning, and the function of processing information. These resulting cognitive impairments may contribute to educational decline, where special education services, IEPSs, tutoring, or consistent neuropsychological assessments are required. If not given proper support, survivors may deal with academic stagnation or decline, which could potentially affect future prospective career paths and personal development.
Emotional
Several patients experience emotional trauma in various ways as a result of a pineoblastoma diagnosis. During the process of treatment or post-treatment, several diagnosed children struggle with mental illnesses, including depression, anxiety, or symptoms close to PTSD. This is varying and depending on trauma from having multiple procedures and extended hospitalization visits. Along with other adverse physical effects (such as fatigue or hair loss), children could encounter emotional effects, including social isolation from friends and peers, resulting in becoming distressed. Chronic anxiety, tiredness, and burnout are typical issues for many parents and caregivers. Work-related difficulties, financial strain, and other newly acquired household duties are a component of the difficulty of managing their loved ones' medical care.
Social
There are many severe social impacts for diagnosed child patients for pineoblastoma. Being away from school and peers for extended periods of time could potentially affect or stunt emotional and social development, making reintegration difficult. Many Pineoblastoma survivors go through the struggle of stigmatization, harassment, or just the feeling of being “left out or behind” within school and their peers. The burden of care affects patients' families strongly, causing strains on relationships along with emotional disconnection with family members. Over the treatment process, many financial burdens from lost wages, medical and treatment bills, and travel for the procedure process could potentially destabilize family dynamics.
Long-Term
Another consequence from treatment for Pineoblastoma is lifelong surveillance of the recovery process. There are many potential recurrences, especially in patients with high-risk molecular subtypes (ex. RB1 mutations). Follow-up treatment and procedures include consistent MRI scans, endocrine observations, and pineoblastoma screenings. Many pineoblastoma survivors are encouraged to enroll in a survivorship clinic, where they are able to receive scheduled care from their neurologists, oncologists, endocrinologists, psychologists, and their social workers. In the modern world, many molecular medicines have been used for more targeted monitoring, but the burden from long-term treatment and care still remains.
Conclusion
Pineoblastoma is rare and can be cancerous. Mostly, children under 10 are diagnosed with pineoblastoma and that’s why it is named as one of the pediatric brain tumors. It can cause symptoms like headaches, nausea, and can cause a person to have trouble with eye movement. It can sometimes go unnoticed, because it occurs deep in the brain and it can be hard to treat it, due to its ability to expand quickly, reaching to other regions in the brain. Current treatments include surgeries, radiation therapy and chemotherapy. Recent therapies and past or ongoing clinical trials treat all PBs as a single disease, potentially overlooking opportunities to detect subtype-specific responses. A major challenge in understanding the biology of PB is the scarcity of the disease and limited availability of high-quality tumor tissue. Advances in DNA and RNA sequencing from minute and degraded samples, including paraffin sections, will enable robust analysis, particularly, mutations, epigenomic and proteomic alterations that may cooperate with the major drivers of the disease. Many healthcare professionals like neurosurgeons, oncologists, nurses, and therapists are working together to treat pineoblastoma and due to the new technological advancements in recent years, it brings hope for newer treatments/methods.
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