Miriam has metastatic breast cancer and standard medicine has no answers for her case.
Her tumor doesn't respond to any standard treatment. Finding the right one requires tests that public healthcare won't fund. And time cannot wait.
80%
Of the tumor shows neuroendocrine differentiation — the component that makes its biology unlike any conventional breast cancer
×13
Times amplified the gene that makes standard treatments ineffective
2
Treatment lines completed with limited response — none sustainable long-term
5+
Specialists from 4 countries working on her case
Why do we need your help?
Miriam needs to fund a precision diagnostic strategy that public healthcare doesn't cover. Every contribution brings her case closer to an answer — and could set a precedent for other patients with tumours outside clinical guidelines.
What are we funding?
The money covers the needs of the case as they emerge — not just one test, but everything involved in finding the right treatment for a tumour with no established protocol.
- Bone re-biopsy with advanced genomic panel
- Functional immunohistochemistry tests to identify therapeutic targets
- Consultations and second opinions with international specialists
- Clinical documentation for access to trials and compassionate use programmes
- Any additional test that arises throughout the process
Why isn't this covered by public healthcare?
Current clinical guidelines classify this tumour as "standard HR+", but its real biology — with 80% neuroendocrine differentiation and FGFR1 ×13 amplification — needs precision tests that are not included in the protocol. Without them, the treatment is insufficient for what Miriam actually has.
Full transparency
Every expense is publicly documented. We request quotes from international reference centers and share them with the community.
GoFundMeThe molecular profile
See the full science →Molecular profile (TSO500, primary tissue 2024)
| Marker | Result | Clinical note |
|---|---|---|
| FGFR1 | Amplified ×13 | Main driver; CDK4/6i resistance, everolimus sensitivity |
| CCND1 | Amplified ×20 | 11q13 cluster |
| FGF3/4/19 | Amplified ×18 | 11q13 cluster |
| NE Diff. | ~80% (CgA, SYN) | BC-NED subtype: dominant neuroendocrine biology |
| Ki67 | 60% | High proliferative index in breast cancer. In neuroendocrine tumours, Ki67 ≥20% defines aggressiveness grade: 60% places this tumour at grade 3 (NEC) ⁺⁺ |
| TMB / MSI | Low / Low | --- |
| SNVs/INDELs | None pathogenic | No fusions detected |
| PIK3CA / ESR1 | Not detected in tissue | Pending complementary analysis |
| HER2 | Negative (0) | Negative staining |
| PR | Positive | Under evaluation |
⁺ The HER2-ultralow category (membrane staining in <10% of cells) is present in this case according to data from the DIPCAN study / MD Anderson Madrid.
⁺⁺ In neuroendocrine oncology, Ki67 is the primary grading marker: G1 (<3%), G2 (3–20%), G3 (>20%). A Ki67 of 60% corresponds to a high-grade neuroendocrine carcinoma (NEC G3), with a biologically far more aggressive behaviour than conventional luminal breast cancer.
Clinical guidelines classify complex tumors as "standard HR+" when their biology demands a precision approach.
Goal: an N-of-1 trial that sets a precedent for precision oncology in ultra-rare subtypes.