PTPR Hub

Papillary tumor of the pineal region — made by people who've been through it, for the next person who will be

If you were just told you have this

Take a breath. You've found the right place.

If you're reading this, someone probably just said the words "papillary tumor of the pineal region" to you, and then the internet gave you almost nothing. That's not because the news is bad. It's because this tumour is so rare that only a few hundred people have ever been written about since it was first named in 2003. Here is what is actually known, gathered in one calm place.

PTPR grows deep in the centre of the brain, beside the pineal gland. It is thought to start from a tiny structure called the subcommissural organ, not the pineal gland itself. Most people first notice it because of headaches: the tumour sits where fluid drains inside the brain, and when that drain is squeezed, pressure builds (hydrocephalus). The World Health Organization classes it as CNS WHO grade 2 or 3: a real tumour that needs treatment and long follow-up, but not among the most aggressive brain tumours.

Everything here comes from the published medical literature, with the source shown next to each claim, and it is written for patients and families rather than for doctors. It is not a substitute for your own medical team, and it was made by someone who loves a person with PTPR, not by a hospital.

Where it is, and why it causes symptoms

Side view of the brain showing the pineal region at its centre Pineal region deep in the centre front back fluid spaces
PTPR sits at the very centre of the brain, beside the pineal gland, next to the narrow channel where fluid drains. The drawing is a simplified schematic, not an anatomical atlas.
How a tumour blocks fluid drainage and raises pressure Normal Fluid drains freely through a narrow channel With PTPR The tumour narrows the channel; fluid builds up: headache, nausea
Hydrocephalus explains most first symptoms. Relieving it (an ETV or a shunt) is often the first operation, and symptoms frequently ease quickly afterwards.

Key facts

2003

First described by Jouvet and colleagues in Lyon, France (six patients)

2007

Added to the WHO classification of brain tumours

Grade 2–3

CNS WHO grade in the current (2021) classification

30s

Typical age at diagnosis, though it has been reported from 15 months to the late 60s

~89%

Of published patients had hydrocephalus (fluid build-up); headache is the most common first symptom

≈ 50 / 50

Men and women are affected about equally

The questions everyone asks

Honest answers, with the numbers behind them

These are the questions people type into search engines at 2 a.m. The numbers come from the largest pooled studies, but please hold them loosely: they describe small groups of patients, many treated 10 to 20 years ago, before molecular testing and modern radiotherapy. They cannot predict one person's path.

How long do people live with this?

73% of patients were alive five years after diagnosis in the first multicentre series (31 patients, 2006), and the same study's authors later followed 44 patients, 32 of whom were alive after a median of more than five years. A 2019 analysis pooling every published case found 83.5% alive at three years.

Behind those averages are individual stories of people well 7, 10 and 15 years after surgery, some with no further treatment at all.

What the numbers can't tell you: they describe patients diagnosed mostly between 2003 and 2017. Methylation profiling, proton therapy and targeted drugs barely existed then. Nobody can tell you your number, and that uncertainty cuts both ways.

Sources: Fèvre-Montange 2006 · Fauchon 2013 · Yamaki 2019

Does it come back?

Often, yes, and this is the single most important thing to understand about PTPR. In the pooled analysis, 57% of patients had a recurrence, at a median of 28 months. In the 2024 molecular series the median time without progression was 63 months. Recurrence is almost always local, in the same place, and sometimes appears years later. That is why your team will keep scanning you for a long time.

A recurrence is not a death sentence. The literature is full of people treated again, with a second operation, radiosurgery, radiotherapy or, more recently, targeted drugs, and then stable for years. Being followed closely is the point: it catches regrowth when it is small.

Sources: Yamaki 2019 · Wu 2024

Do people die from it?

Some do. In a review of 73 published patients, 3 had died at the time their reports were written, and 50 had no recurrence at all. Deaths in the literature cluster around repeated recurrences, tumours that could not be fully removed, and surgical complications in the earliest years. Most people in published reports were alive at their last follow-up.

The overall picture is of a tumour people live with, under surveillance, more often than one they die from. Several doctors who have written about PTPR describe it as unpredictable rather than aggressive.

Source: Nasrollahi 2016

Is it cancer?

It sits in between. CNS WHO grade 2 or 3 means it is not benign (grade 1), because it can regrow and, rarely, spread through the spinal fluid, but it is not grade 4 like glioblastoma. Doctors treat it seriously and follow it for years for exactly that reason. The grade itself is less settled than for other tumours: the WHO says precise grading criteria for PTPR are not yet established.

Source: WHO CNS5, 2021

Does it spread?

Usually it stays where it is. Spread through the cerebrospinal fluid to the spine or the lining of the brain (leptomeningeal seeding) has been reported in a minority of cases, which is why an MRI of the whole spine is part of the standard work-up at diagnosis and sometimes during follow-up.

Sources: Kim 2010 · Nowicka 2016

If it was completely removed, am I done?

Complete removal (gross total resection) is the factor most consistently linked to longer survival, and there are published patients who had their tumour fully removed, no further treatment, and no recurrence after nearly five years. But even after complete removal, recurrence happens: around 39% of children in one review, and comparable rates in adults. So "done" means "done with this chapter": follow-up scans continue, often yearly, for a decade or more.

Sources: Fauchon 2013 · Balci Topuz 2026

Did I do something to cause this?

No. There are no known lifestyle, environmental or dietary risk factors for PTPR. It is not caused by stress, phones, diet or anything you did or didn't do. In almost every case it is not inherited either; a handful of recent reports describe inherited changes in a gene called PTEN in people with PTPR, which is a research lead, not a reason for most families to worry.

Sources: Royal-Preyra 2025 · O'Neal 2025

Should I get a second opinion?

For a tumour this rare, almost every expert would say yes, at least for the pathology. PTPR is regularly mistaken for other papillary tumours; several published patients carried a wrong diagnosis for years. Ask whether DNA methylation profiling was done, and whether your slides can be reviewed at a centre that sees pineal tumours. Good doctors are not offended by this.

What usually happens next

Care differs between countries and hospitals, and there is no single agreed protocol because the tumour is so rare. These are the steps that appear again and again in the published cases.

  1. Relieving the pressureIf hydrocephalus is present, the first operation is often a small one to let fluid drain: an endoscopic third ventriculostomy (ETV) or a shunt. Headaches, nausea and vision problems often ease quickly.
  2. Finding out exactly what it isMRI of the brain and whole spine, blood and spinal-fluid tests for germ-cell tumour markers (AFP and beta-hCG), sometimes spinal-fluid cytology. A definite diagnosis of PTPR needs tissue.
  3. SurgeryRemoving as much tumour as can be done safely is the step most consistently linked to better outcomes. This is deep, delicate surgery; ask whether your surgeon or centre has experience with pineal-region tumours.
  4. Pathology, including molecular testingUnder the microscope PTPR resembles several other tumours. Cytokeratin staining and, increasingly, DNA methylation profiling confirm the diagnosis and can place it in subgroup PTPR-A or PTPR-B.
  5. The radiotherapy conversationMany centres offer radiotherapy after surgery, especially when tumour is left behind, but retrospective studies disagree on how much it helps. This is a reasonable moment for a second opinion from a neuro-oncology centre.
  6. Long-term follow-upPTPR tends to come back locally, sometimes years later. Regular MRI for many years is standard. Many people settle into a rhythm of yearly scans and otherwise ordinary lives.

Questions worth asking your team

Has the diagnosis been confirmed by a neuropathologist with pineal-tumour experience?
PTPR is often mistaken for papillary ependymoma, choroid plexus tumours or metastases. A second pathology read at a large centre is common and reasonable.
Was DNA methylation profiling done? Which subgroup is it?
Methylation profiling is now the most reliable way to confirm PTPR and distinguishes PTPR-A from PTPR-B. Published series suggest group B may recur sooner, which can affect how closely you are followed.
How much of the tumour was removed, and what does the post-operative MRI show?
Knowing whether residual tumour is present shapes the radiotherapy discussion.
What is the plan for follow-up imaging, and for how long?
Because late recurrence is documented, many teams continue MRI surveillance for a decade or more.
Is there a rare-tumour programme or natural-history study I can join?
In North America, the NCI-CONNECT programme studies rare central nervous system tumours and offers consultations. In Europe, EURACAN is the reference network for rare adult cancers.

Words you will hear

Pineal region
The very centre of the brain, around the pineal gland, which makes melatonin. Tumours here block the narrow channel that drains fluid from the brain.
Hydrocephalus
Build-up of cerebrospinal fluid because its drainage is blocked. Causes headache, nausea, sleepiness and vision changes. Treated with an ETV or a shunt.
ETV
Endoscopic third ventriculostomy: a small operation that makes a new opening for fluid to drain, avoiding a permanent shunt.
Parinaud's syndrome
Difficulty looking upward, with pupil changes, from pressure on the top of the brainstem. Reported in a minority of PTPR patients.
Gross total resection
Surgical removal of all visible tumour. Subtotal resection means some was left behind, often deliberately to protect vital structures.
Methylation profiling
A laboratory test that reads chemical marks on the tumour's DNA and compares them with thousands of known tumours. Very accurate for PTPR.
PTPR-A / PTPR-B
The two molecular subgroups of PTPR described in 2016 and confirmed in 2024.
CNS WHO grade
The World Health Organization's 1-to-4 scale of how a brain tumour is expected to behave. PTPR is grade 2 or 3.
Subcommissural organ
A tiny gland-like structure next to the pineal gland, present in the developing brain, from which PTPR is thought to arise.

Why this exists

A gift, and a promise

In 2016, someone I had not yet met was told he had a brain tumour so rare that the doctors themselves had to look it up. He was young. He went through the scans and the surgery and the long silence afterwards, in which you wait for a machine to tell you whether you can keep making plans. He did it mostly in the dark, because there was almost nothing written for people like him, and what little existed was written for pathologists.

I met him recently. By the time he told me about the tumour, I already knew he was the steadiest person I had ever met; I just didn't yet know why. When I finally sat down to read about PTPR, I found what he had found years earlier: a handful of case reports, a few paragraphs of statistics, and nobody speaking to the person actually living it.

So I built this. It is a gift to him, to say how proud I am of the way he has carried something most people never have to carry, and it is a promise to the next person who hears those four words: you will not have to search in the dark the way he did. Everything we could find is here, in plain language, with the sources shown, and with room for your story next to his.

He is doing well. His scans have been stable for years now, and life has settled into yearly MRIs and everything that happens in between them. That is not a guarantee for anyone else, but it is a true story, and true stories were what we both wished we'd had.

My thanks go to his parents and his two sisters, who held him up long before I arrived, to his friends, and to the staff at Sunnybrook who have looked after him from the first frightening weeks through every scan since. This site exists because of all of you.

— Moni, Ottawa

If you have a story of your own, or you are the person who was just diagnosed and simply want to talk to someone who has been through this, write to . Nothing is published without your agreement, and you never have to share more than you want to.

A timeline of the research

How PTPR was discovered, recognised and understood

Twenty-three years of research in order: the first description, the WHO's recognition of the tumour, the studies that shaped how it is treated, and the molecular work that now defines it. Each entry links to its source.

    Reported cases

    The people behind the papers

    Every case here is a real person described in a published medical report: how old they were, what was done, and how they were doing when the report was written. It is not a complete registry (most people with PTPR are never written up, and pooled studies rarely give individual details), but it is the closest thing to "people like me" that exists. Add a case through the Contribute page.

    How many people have had PTPR?

    Nobody knows the true number. There is no registry anywhere in the world, and most people who are diagnosed are never written about. What can be counted is the medical literature: each time doctors publish a review, they tally every case reported so far. Those tallies, plotted below, are the best available picture, and they only ever go up as older cases are re-examined and new ones are published.

    –

    cases counted in the most recent published review ()

    –

    individual patients with details in this site's registry

    –

    articles on PubMed mentioning PTPR (updates automatically)

    A fair summary for a newly diagnosed person: a few hundred cases have been described worldwide since 2003, perhaps 10 to 20 new reports a year, and the real number of people living with PTPR is certainly higher. To keep this up to date, add a new point in data.js whenever a review publishes a new total.

    Alive, no recurrenceAlive, stable diseaseRecurrence / progressionDiedNot reported

    Click a marker or a card to read one person's story in the literature.

    cases shown

    Where it's studied

    A map of the research

    Each marker is a centre that has published PTPR cases or research. Click a marker or a name to read what came from there.

    Reporting centres ()

    Where the first 73 published patients came from

    Research

    Publications

    Every paper we know of about PTPR, sorted newest first, with a plain-language summary of what each one found and what it added to the picture. Choose a category, or search. New PubMed articles are fetched live each time the page loads and appear under "Latest from PubMed".

    Checking PubMed for the newest publications…

    Clinical trials mentioning pineal-region tumours

    Checking ClinicalTrials.gov…

    You are not alone

    Support

    With so few people diagnosed, there is no PTPR-only charity or support group anywhere in the world yet. The organisations below support people with any rare brain tumour, and several have mentor programmes that will try to match you with someone whose situation is close to yours.

    Find each other

    This site wants to become the place where people with PTPR, their families and the people who have lost someone can meet. If you would like to be put in touch with others, or to help start a small private group (email list, WhatsApp, Discord or a monthly video call), write to . Nothing is published or shared without your written agreement.

    If you want to start a group yourself

    1. Pick one private channel people already use (a WhatsApp or Signal group, or a private Facebook group).
    2. Ask RareConnect (EURORDIS) to host a moderated PTPR community; they do this free for rare diseases.
    3. Agree on three rules early: no medical advice, no selling, privacy by default.
    4. Tell this site, so the group can be listed here for the next person who is diagnosed.

    Lived experience

    Stories

    Research papers describe tumours. These pages are for the people. Interviews with survivors and a place to remember those who died are published here only with written consent from the person or their family.

    Living with and after PTPR

    In memory

    Share your story

    Interviews can be written, by email, or by video call, and you choose how much identifying detail appears. Families who would like a loved one remembered here can send a photo and a few words. Write to .

    Help keep this accurate

    Contribute

    This site is run by one person and improved by everyone who uses it. Three things help most.

    Add a case

    Doctors, patients and families can add a published or unpublished case to the registry. Only age group, sex, country, treatment and outcome are shown; never names.

    Point out a mistake

    If something here is wrong, outdated or unclear, say so. Every correction is checked against the source and the "last reviewed" date is updated.

    Translate

    PTPR has been reported on every inhabited continent. Translations into French, Persian, Spanish, Turkish, Portuguese and others would reach people who need them.

    Goes to

    How this site was made

    The site was written and designed by a volunteer with the help of an AI assistant (Anthropic's Claude), which helped gather the literature, draft the plain-language text and build the pages. Every medical statement is drawn from published, peer-reviewed articles, each one linked so you can read the original yourself, and the numbers and case details have been checked against those sources by a person. If you find something that does not match its source, please tell us and it will be corrected.

    How this site stays current

    The Publications page queries PubMed and Europe PMC every time it is opened, so new papers appear without anyone editing the site. The timeline, case registry, publication summaries and support list are edited by hand in plain data files and reviewed against their sources. The date of the last review is shown in the footer.

    Please read before relying on anything here. This site is made by one volunteer, not by doctors or a hospital, and nothing on it is medical advice. Every figure comes from a linked published article: please open the articles, read them yourself, and draw conclusions only together with your own medical team. Statistics describe groups of past patients and cannot predict any one person's future. Full disclaimer, privacy and copyright.