Skip to main content

Table 4 Clinical summary of cases with a significant methylation-mediated impact on patient care

From: The central nervous system tumor methylation classifier changes neuro-oncology practice for challenging brain tumor diagnoses and directly impacts 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

  1. 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