TMPRSS2-ERG fusion
Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.
| ID | BIO-TMPRSS2-ERG-FUSION |
|---|---|
| Тип | Біомаркер |
| Синоніми | ERG rearrangement (prostate)T2:ERGTMPRSS2:ERGФузія TMPRSS2-ERG |
| Статус | переглянуто 2026-04-29 | очікує клінічного підпису |
| Хвороби | Не вказано |
| Джерела | SRC-EAU-PROSTATE-2024 SRC-ESMO-PROSTATE-2024 SRC-NCCN-PROSTATE-2025 |
Дані про біомаркер
| Тип біомаркера | gene_fusion |
|---|---|
| Деталі мутації | {"functional_impact": "Androgen-driven aberrant ERG transcription factor expression — drives prostate-cancer-specific oncogenic program (invasion, EMT, PI3K-AKT cross-talk)", "gene": "ERG", "gene_hugo_id": "HGNC:3446", "partners": ["TMPRSS2 (most common, 5' partner)", "SLC45A3 (rare)", "NDRG1 (rare)"], "type": "interstitial deletion or translocation at 21q22.2-22.3 placing ERG under androgen-responsive TMPRSS2 promoter"} |
| Вимірювання | MethodFISH break-apart probe for ERG (or TMPRSS2-ERG dual-color fusion probe); ERG IHC (clone EPR3864) as screening surrogate (~95% concordance with FISH); RNA-based NGS detects fusion transcript directly Unitscategorical (positive | negative) Sensitivity requirementERG IHC nuclear staining ≥1+ in tumor cells correlates with FISH-confirmed fusion; FISH gold standard. RNA-NGS captures rare non-TMPRSS2 ERG-fusion partners that IHC also detects (ERG-positive) but FISH break-apart probe may miss without TMPRSS2 confirmation. |
| Пов’язані біомаркери | Не вказано |
Нотатки
TMPRSS2-ERG is the most common gene fusion in prostate cancer (~50% of Caucasian prostate adenocarcinomas, ~20-30% in Asian and African-American populations — frequency varies by ancestry). Mechanism: androgen-responsive TMPRSS2 promoter drives aberrant ERG expression after interstitial 21q22 deletion (~2/3 of cases) or translocation. Clinical relevance: PROGNOSTIC, not Tx-modifying. Original Tomlins 2005 (Science) report linked fusion to aggressive disease; subsequent meta-analyses (e.g., Pettersson 2012, Cancer Epidemiol Biomarkers Prev) showed prognostic signal weaker than initially claimed and confounded by Gleason / stage. PARPi-sensitivity hypothesis (ETS-fusions causing replicative stress → PARPi response) TESTED but not validated as a monotherapy biomarker — ERG status alone does NOT qualify for olaparib / niraparib / talazoparib (which require HRR mutations). Use in KB: ships as biomarker only — no IND, no algorithm step. May be used in MDT brief to confirm prostate- origin in challenging metastasis-of-unknown-primary cases (ERG-IHC in metastasis = strong prostate-origin signal). Trial-level Source IDs for Tomlins 2005 + Pettersson 2012 + PROPHECY are flagged as missing i...
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Тривожна ознака
RF-PROSTATE-TMPRSS2-ERG-PROGNOSTIC- TMPRSS2-ERG fusion detected on tumor RNA / FISH / IHC for ERG in localized or metastatic...