Table 4.
Clinical summary of cases with a significant methylation-mediated impact on patient care
| Case no. | Initial pathology (*differential) | Initial treatment plan | Integrated diagnosis | New treatment plan | Methylation profiling impact |
|---|---|---|---|---|---|
| 1 |
Glioma NOS –IDH1 (R132H)-neg, high-grade features |
Offered FSRT/TMZ & adjuvant TMZ | DNET | Observation |
1) Avoided unnecessary treatment 2) Resolved anxiety due to initial diagnosis/treatment |
| 2 |
Anaplastic oligodendroglioma –IDH1 (R132H)-neg, 1p/19q-codeletion |
1) Received FSRT 2) Planned for PCV |
Anaplastic PXA |
1) Hold PCV 2) Observe |
Avoided unnecessary treatment |
| 3 |
Glioma NOS –IDH1 (R132H)-neg, anaplastic features |
Offered FSRT/TMZ and adjuvant TMZ | DLGNT | Observation | Avoided unnecessary treatment |
| 4 |
1) GBM* 2) Anaplastic PXA – IDH1 (R132H)-neg, BRAF (V600E)-mut, high-grade features |
FSRT/TMZ and adjuvant TMZ | Anaplastic PXA | Surgery, chemotherapy, and BRAF inhibitor after recurrence |
1) Resolved depression due to unclear diagnosis 2) Avoided potential medical assisted death due to diagnosis given |
| 5 |
Schwannoma –SOX10-pos, S100-pos, Ki-67 10% |
FSRT |
Anaplastic pilocytic astrocytoma –Malignant glial tumor |
Provided full craniospinal radiation at recurrence | Received potentially insufficient initial treatment |
| 6 |
1) PXA* 2) Other high-grade gliomas – IDH1 (R132H)-neg, BRAF (V600E)-neg |
Considered reduced dosing for FSRT/TMZ & adjuvant TMZ | GBM, IDH wildtype | Treatment fully completed | Avoided possible insufficient initial treatment |
| 7 |
Metastatic high-grade neuro-endocrine tumor –TTF1-pos, IDH1 (R132H)-neg, well demarcated |
1) SRS post-op 2) FSRT and cisplatin/etopside for 1st recurrence 3) Surgery and WBRT for second recurrence |
GBM, IDH wildtype | Temozolomide provided after second recurrence |
1) Received insufficient treatment and recurred 2) May have avoided unnecessary invasive biopsies |
GBM glioblastoma, PXA pleomorphic xanthoastrocytoma, DLGNT diffuse leptomeningeal glioneuronal tumor, NOS not otherwise specified, DNET dysembryoplastic neuroepithelial tumor, SRS single-dose stereotactic radiosurgery, FSRT fractionated stereotactic radiotherapy, TMZ temozolomide, RT radiotherapy