ALK rearrangement / fusion
Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.
| ID | BIO-ALK-FUSION |
|---|---|
| Тип | Біомаркер |
| Синоніми | Перебудова / фузія ALK |
| Статус | очікує клінічного підпису |
| Хвороби | Не вказано |
| Джерела | Не вказано |
Дані про біомаркер
| Тип біомаркера | gene_fusion |
|---|---|
| Деталі мутації | {"functional_impact": "Constitutive ALK kinase activation", "gene": "ALK", "partners": ["EML4 (most common)", "KIF5B", "TFG", "KLC1", "STRN", "and others"], "type": "chromosomal rearrangement (typically inversion at 2p21-23)"} |
| Вимірювання | MethodRNA-based NGS (preferred for fusion sensitivity) OR FISH OR IHC (D5F3 antibody) Sensitivity requirementRNA-NGS captures fusion partners; FISH break-apart probe detects rearrangements |
| Пов’язані біомаркери | Не вказано |
Нотатки
IHC screen → confirmatory FISH or NGS. Modern NGS panels detect ALK fusions directly.
Де використовується
Algorithms
ALGO-IMT-1L- ALGO-IMT-1L
Diseases
DIS-IMT- Inflammatory myofibroblastic tumor (IMT)
Indications
IND-IMT-ALK-CRIZOTINIB- IND-IMT-ALK-CRIZOTINIBIND-NSCLC-2L-DOCETAXEL-RAMUCIRUMAB- IND-NSCLC-2L-DOCETAXEL-RAMUCIRUMABIND-NSCLC-2L-PD-L1-POST-IO-DOCETAXEL- IND-NSCLC-2L-PD-L1-POST-IO-DOCETAXELIND-NSCLC-ADJUVANT-ATEZO-PDL1POS- IND-NSCLC-ADJUVANT-ATEZO-PDL1POSIND-NSCLC-ALK-1L-ENSARTINIB- IND-NSCLC-ALK-1L-ENSARTINIBIND-NSCLC-ALK-2L-LORLATINIB- IND-NSCLC-ALK-2L-LORLATINIBIND-NSCLC-ALK-MAINT-ALECTINIB- IND-NSCLC-ALK-MAINT-ALECTINIBIND-NSCLC-ALK-MET-1L- IND-NSCLC-ALK-MET-1LIND-NSCLC-DRIVER-NEG-MET-1L-NIVO-IPI-CHEMO- IND-NSCLC-DRIVER-NEG-MET-1L-NIVO-IPI-CHEMOIND-NSCLC-ELDERLY-CARBO-PEM-MOD- IND-NSCLC-ELDERLY-CARBO-PEM-MODIND-NSCLC-PERIOPERATIVE-PEMBRO- IND-NSCLC-PERIOPERATIVE-PEMBROIND-NSCLC-TMB-HIGH-MET-1L-PEMBRO-MONO- IND-NSCLC-TMB-HIGH-MET-1L-PEMBRO-MONO
Questionnaires
QUEST-NSCLC-1L-STUB- Non-small cell lung cancer — first line
Tests
TEST-NSCLC-NGS-PANEL- NSCLC comprehensive NGS panel (DNA + RNA fusion)
Біомаркер
BIO-ALK-G1202R- ALK G1202R resistance mutationBIO-ALK-L1196M- ALK L1196M gatekeeper resistance mutationBIO-NRG1-FUSION- NRG1 fusion (gene rearrangement)
Клінічна застосовність
BMA-ALK-EML4-V1-NSCLC- EML4-ALK variant 1 (E13;A20) is a stable fusion isoform with longer PFS on 2nd-gen ALK-TK...BMA-ALK-EML4-V3-NSCLC- EML4-ALK variant 3 is associated with shorter PFS on 2nd-gen ALK-TKIs (crizotinib/alectin...BMA-ALK-FUSION-ALCL- ALK-positive ALCL (typically NPM1-ALK t(2;5)) is generally cured by CHOP-based regimens w...BMA-ALK-FUSION-NSCLC- ALK rearrangement in advanced NSCLC: alectinib (ALEX, Peters 2017) and lorlatinib (CROWN,...BMA-ALK-G1202R-NSCLC- ALK G1202R is a solvent-front mutation conferring resistance to 1st/2nd-gen ALK-TKIs (cri...BMA-ALK-L1196M-NSCLC- ALK L1196M is the gatekeeper mutation conferring resistance to crizotinib but retaining s...
Тривожна ознака
RF-IMT-HIGH-RISK-BIOLOGY- Inflammatory myofibroblastic tumor with actionable fusion driver: ALK fusion (TPM3-ALK, T...RF-NSCLC-HIGH-RISK-BIOLOGY- Actionable molecular driver detected (EGFR / ALK / ROS1 / KRAS G12C / BRAF V600E / MET ex...RF-THYROID-ANAPLASTIC-HIGH-RISK-BIOLOGY- Anaplastic thyroid carcinoma with actionable driver mutation: BRAF V600E (~25-40% ATC; da...RF-THYROID-PAPILLARY-HIGH-RISK-BIOLOGY- Papillary thyroid carcinoma with adverse molecular / clinical features: BRAF V600E (~60%...