Data Last Updated: Oct. 15, 2024

Brain Molecular Markers

Description

Multiple brain molecular markers have become standard pathology components necessary for diagnosis. This data item captures clinically important brain cancer subtypes identified by molecular markers that are not distinguishable by ICD-O-3 codes. If a mutation or alteration is in the name of the histopathology, it is required for diagnosis as it helps distinguish among clinically important subtypes within ICD-O-3 * *IDH mutation status* distinguishes between clinically important subtypes within ICD-O-3 **9400/3**, Diffuse astrocytoma and **9401/3**, Anaplastic astrocytoma. * *IDH mutant and 1p/19q co-deletion* distinguishes between clinically important subtypes within ICD-O-3 code **9450/3**, Oligodendroglioma and **9451/3**, Anaplastic Oligodendroglioma. * *IDH-wildtype* distinguishes clinically important subtypes within ICD-O-3 **9400/3**, Diffuse astrocytoma, **9401/3**, Anaplastic astrocytoma and **9440/3**, Glioblastoma, Epithelioid glioblastoma and Glioblastoma, NOS (note that the new ICD-O-3 code **9445/3** applies to Glioblastoma, IDH-mutant; information regarding this subtype is not collected using this data item). * *SHH-activation and TP53-wildtype* distinguishes between clinically important subtypes within ICD-O-3 histology code **9471/3**, Medulloblastoma. * *C19MC alteration* status distinguishes a clinically important highly aggressive subtype within ICD-O-3 **9478/3**, Embryonal tumor with multilayered rosettes * *Pediatric-type diffuse low-grade gliomas*: **9385/3** Diffuse hemispheric glioma, H3-G34-mutant, Diffuse midline glioma, H3 K27-altered, Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype, and Infant-type hemispheric glioma. * *Ependymal tumors* are distinguished by mutations required for diagnosis among clinically important subtypes: **9396/3** Posterior fossa group A (PFA) ependymoma, Posterior fossa group B (PFB) ependymoma, Spinal ependymoma, MYCN-amplified, Supratentorial ependymoma, YAPI fusion-positive, and Supratentorial ependymoma, ZFTA fusion-positive. * *Pediatric-type diffuse low-grade gliomas* are distinguished among subtypes by mutations required for diagnosis: **9421/1** Diffuse astrocytoma, MYB-or MYBL1-altered, Diffuse low-grade glioma, MAPK pathway-altered, and Pilocytic astrocytoma. * *Circumscribed astrocytic tumors* are distinguished among subtypes by mutations required for diagnosis: **9430/3** Astroblastoma, MN1-altered and Astroblastoma. * *Other CNS embryonal tumors* are distinguished among subtypes by mutations required for diagnosis: **9500/3** CNS neuroblastoma, FOXR2-activated, CNS tumor with BCOR internal tandem duplication, and Neuroblastoma, NOS.

Notes

**Note 1:** **Physician Statement** * Physician statement of histologic subtype can be used to code this data item when no other information is available. **Note 2:** **Data item history** * This data item was introduced in 2018 and applied to the following ICD-O-3 histology codes 9400/3, 9401/3, 9440/3, 9450/3, 9451/3, 9471/3, 9478/3 * These are codes 01-09 and are applicable for cases diagnosed 2018+ and are in ICD-O-3 order * In 2022, the 5th edition of the CNS WHO Blue Book was released and the following histologies were added 9385/3, 9396/3, 9421/1, 9430/3, 9500/3 * These are codes 10-23 and are applicable for cases diagnosed 2024+ and are in ICD-O-3 order
Code ICD-O-3 Code ICD-O-Description
01 9400/3 Astrocytoma, IDH-mutant, grade 2
02 9400/3 Diffuse astrocytoma, IDH-wildtype
03 9401/3 Astrocytoma, IDH-mutant, grade 3
04 9401/3 Anaplastic astrocytoma, IDH-wildtype
05 9440/3 Glioblastoma, IDH-wildtype
06 9450/3 Oligodendroglioma, IDH-mutant and 1 p/19q co-deleted
07 9451/3 Oligodendroglioma, IDH-mutant and 1p/19q co-deleted, grade 3
08 9471/3 Medulloblastoma, SHH-activated and TP53-wildtype
09 9478/3 Embryonal tumor with multilayered rosettes, C19MC-altered
10 9385/3 Diffuse hemispheric glioma, H3-34 mutant
11 9385/3 Diffuse midline glioma, H3 K27-altered
12 9385/3 Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
13 9385/3 Infant-type hemispheric glioma
14 9396/3 Posterior fossa group A (PFA) ependymoma
15 9396/3 Posterior fossa group B (PFB) ependymoma
16 9396/3 Spinal ependymoma, MYCN-amplified
17 9396/3 Supratentorial ependymoma, YAP1 fusion-positive
18 9396/3 Supratentorial ependymoma, ZFTA fusion-positive
19 9421/1 Diffuse astrocytoma, MYB- or MYBL1-altered
20 9421/1 Diffuse low-grade glioma, MAPK pathway-altered
21 9430/3 Astroblastoma, MN1-altered
22 9500/3 CNS neuroblastoma, FOXR2-activated
23 9500/3 CNS tumor BCOR internal tandem duplication
85 NA Not applicable: Histology not 9385/3, 9396/3, 9400/3, 9401/3, 9421/1, 9430/3, 9440/3, 9450/3, 9451/3, 9471/3, 9478/3, 9421/1, 9430/3, 9500/3
86 NA Benign or borderline tumor
*Excludes:* 9421/1 (codes 19-20)
87 NA Test ordered, results not in chart
88 NA Not applicable: Information not collected for this case
(If this item is required by your standard setter, use of code 88 will result in an edit error.)
99 NA Not documented in medical record
No microscopic confirmation
Brain molecular markers not assessed or unknown if assessed