Intimal sarcoma is one of the rarest cancers there is.
So rare that there is no reliable natural-history data, no shared registry, and almost nothing to design a trial around. We are building the missing foundation: a structured, molecularly-linked base of real cases that turns scattered stories into something science can act on.
Occasional updates as cases, data and findings come in. No spam, and you can unsubscribe at any time.
A patient-founded, non-profit initiative. We connect people and data to the centers already leading sarcoma research — we don't duplicate them.
When a cancer is this rare, the usual machinery of medicine stalls. Cases are scattered across countries and clinics. No single center sees enough patients to draw conclusions. There are no reliable survival statistics, no map of how the disease recurs, no biobank of tissue to test drugs against. Funders and companies stay away because there is nothing to build a study on.
The result is that every new patient — and every treating physician — effectively starts from scratch. We think that is a solvable problem, and that the missing piece is not a breakthrough drug but organized information.
Below is the complete molecular profile of one intimal sarcoma of the pulmonary artery, completely resected, from a comprehensive next-generation sequencing panel. Identity, institution, dates and country are withheld; nothing else is.
One case proves nothing on its own. But the entire published molecular literature on this disease amounts to roughly 120 sequenced cases worldwide — so a single fully reported profile is not a footnote here. It is also the format we think every case deserves, and the starting point for a comparison we would like to run with you.
Comparison frequencies from Koelsche et al., Modern Pathology 2021 (n=35, genome-wide copy number and methylation profiling): https://doi.org/10.1038/s41379-021-00874-y — This is a single case reported for comparison and hypothesis generation. It is not medical advice and carries no inference for any other patient.
YAP1 is the loudest signal here. At 27.53 copies it exceeds both MDM2 and CDK4 — the two alterations that define the disease. YAP1 amplification is a documented driver in roughly 10% of soft-tissue sarcomas broadly, particularly dedifferentiated liposarcoma and undifferentiated pleomorphic sarcoma, but it does not appear as recurrent in intimal sarcoma series. Either it is genuinely rare here, or nobody has been looking for it.
PDGFRA is absent, and that matters. PDGFRA amplification is one of the three canonical alterations of this entity, present in about 60% of reported cases. Its absence here shifts the presumed driver landscape entirely onto cell-cycle control — and would argue against a PDGFR-directed approach in this particular case.
Copy-number driven, immunologically quiet. Low mutational burden, low genomic instability, microsatellite stable. A profile shaped by amplification rather than mutation. This is worth stating openly because it tempers optimism about single-agent immunotherapy in cases that look like this one.
Why we published this. Every rare-disease initiative asks patients to hand over their most sensitive information to strangers on the internet. It seems fair to go first. If this page is worth anything, it is worth something because it contains real numbers — and because the next case, and the one after that, make the comparison sharper.
Treatment timeline, metabolic imaging response, pathology, genomics and serial labs — one completely resected pulmonary artery intimal sarcoma. Identity, institution and country withheld.
Each step is a concrete asset that makes the next one possible. We are not trying to run the science ourselves; we are building the foundation the leading centers need — and connecting it to the expert cohorts that already exist.
Real intimal sarcoma cases, documented in a consistent, consented format, so patterns become visible where today there is only anecdote.
How the disease actually behaves: where it recurs, what treatments were used, how people responded. The map that doesn't exist yet.
Linking each case to its molecular profile (MDM2 / CDK4 and beyond) to learn which subtypes might respond to which targeted approaches.
Connecting cases to tissue, cell lines and models: a shared resource labs worldwide can use to test drugs the field cannot screen today.
The dataset and biobank that make a study designable and fundable, including inclusion of intimal sarcoma in broader molecularly-defined trials.
Feeding this foundation into the expert cohorts already leading the field, so the whole rare-disease community pulls in one direction.
One principle guides everything: connect, don't silo. The world already has brilliant sarcoma centers and cohorts. Our job is to be the connective tissue — to organize what patients know and hold, and channel it to the people who can turn it into treatments. Structured and consented, never scattered.
Both are answerable — but only by people who have been through this disease or who work on it. If either applies to you, one message genuinely moves this forward.
If you, or someone in your family, is three or more years out from an intimal sarcoma diagnosis — we especially want to hear from you. In a disease where most published survival is measured in months, the people who did well are the most valuable information that exists, and almost none of it has ever been written down.
What was done, where, and in what order. That's it.
Tell us your course →You have just seen ours. If you or your relative has an NGS or FISH report for an intimal sarcoma, the amplifications and copy numbers on it are the single most useful thing you can share — no names, no records, just the values.
We will add it to the comparison and send you back what it looks like against every other case we hold.
Send your profile →Clinician or researcher? If you have treated even one case, or your work touches MDM2/CDK4-amplified sarcoma, we would like to hear what you would do with material and funding. We would rather support the right experiment than commission the obvious one. contact@intimasarc.com
Run or know of a patient-founded initiative in another ultra-rare cancer? Tell us and we will add it.
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Contact: contact@intimasarc.com
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