1p/19q codeletion
Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.
| ID | BIO-1P19Q-CODELETION |
|---|---|
| Тип | Біомаркер |
| Синоніми | 1p and 19q codeletion1p19q codeletionLOH 1p/19qchromosome 1p/19q lossoligodendroglioma codeletion |
| Статус | переглянуто 2026-05-05 | очікує клінічного підпису |
| Хвороби | Не вказано |
| Джерела | SRC-EANO-GLIOMA-2022 SRC-NCCN-CNS-2025 |
Дані про біомаркер
| Тип біомаркера | copy_number |
|---|---|
| Деталі мутації | {"note": "Concurrent loss of heterozygosity (LOH) of chromosomal arms 1p and 19q. Results from unbalanced translocation t(1;19)(q10;p10) generating der(1;19) fusion chromosome with loss of 1p and 19p material. By definition, requires BOTH 1p AND 19q loss (codeletion) — isolated 1p or isolated 19q loss is NOT diagnostic of oligodendroglioma lineage. Per WHO CNS 2021: IDH-mutant + 1p/19q-codeleted = Oligodendroglioma, IDH-mutant, 1p/19q-codeleted (WHO grade 2 or 3). This combination is REQUIRED f... |
| Вимірювання | MethodFISH (most common clinical assay): dual-probe FISH using 1p36/1q25 and 19q13/19p13 probes. Cut-off: 1p/1q ratio <0.85 or 19q/19p ratio <0.85 considered deleted (lab-specific thresholds). Alternative: SNP array / chromosomal microarray (detects LOH without requiring copy-number change — preferred for equivocal FISH cases). DNA methylation profiling (EPIC array) provides surrogate via copy-number inference and is increasingly standard at reference centers. NGS-based (WGS/WES/large panels): copy-number calling — emerging but not yet fully standardized for 1p/19q in routine practice. |
| Пов’язані біомаркери | BIO-IDH1-R132H BIO-IDH-MUTATION BIO-ATRX-MUTATION BIO-TERT BIO-CDKN2A |
Нотатки
WHO CNS 5th edition (2021) mandates 1p/19q codeletion testing for ALL adult diffuse gliomas as part of integrated histomolecular diagnosis. Key clinical impact: oligodendroglioma (IDH-mut/1p19q-codel) has better prognosis (mOS 14.7 yr RTOG 9802) vs astrocytoma (IDH-mut/no-codel, mOS 8-10 yr) vs GBM (IDH-wildtype, mOS 15-18 mo). Treatment intensification (PCV+RT vs RT alone) benefits the 1p/19q-codeleted group most (EORTC 26951, RTOG 9802). TERT promoter mutation is a co-occurring feature of oligodendroglioma (in ~95%) — co-testing reinforces diagnosis.
Де використовується
Біомаркер
BIO-ATRX-MUTATION- ATRX mutation / ATRX loss (IHC)
Клінічна застосовність
BMA-1P19Q-CODELETION-LGG- 1p/19q codeletion combined with IDH mutation defines oligodendroglioma (WHO CNS 2021 5th...