TP53 mutation / del(17p)
Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.
| ID | BIO-TP53-MUTATION |
|---|---|
| Тип | Біомаркер |
| Синоніми | 17p deletionTP53del 17pp53 mutationМутація TP53 / del(17p) |
| Статус | переглянуто 2026-04-25 | очікує клінічного підпису |
| Хвороби | DIS-AML DIS-BREAST DIS-CERVICAL DIS-CLL DIS-CRC DIS-DLBCL-NOS DIS-ENDOMETRIAL DIS-ESOPHAGEAL DIS-GASTRIC DIS-GBM DIS-HCC DIS-MCL DIS-MDS-HR DIS-MELANOMA DIS-MM DIS-MPNST DIS-NSCLC DIS-OVARIAN DIS-PDAC DIS-PROSTATE DIS-RCC DIS-SCLC DIS-THYROID-PAPILLARY DIS-UROTHELIAL |
| Джерела | SRC-NCCN-AML-2025 SRC-NCCN-BCELL-2025 SRC-NCCN-MM-2025 |
Дані про біомаркер
| Тип біомаркера | gene_mutation |
|---|---|
| Деталі мутації | {"functional_impact": "loss_of_function (tumor suppressor)", "gene": "TP53", "gene_hugo_id": "11998", "variant_type": "missense / nonsense / frameshift / splice / 17p deletion"} |
| Вимірювання | MethodNGS panel (PCR + sequencing) for point mutations + FISH for del(17p13.1) on tumor cells Unitscategorical (positive | negative); positive = mutation OR del(17p) OR both |
| Пов’язані біомаркери | BIO-CLL-HIGH-RISK-GENETICS BIO-MM-CYTOGENETICS-HR |
Нотатки
Універсальний несприятливий маркер при більшості гематологічних і солідних злоякісних пухлин — передбачає погану відповідь на хімотерапію та хімоімунотерапію; відбирає для схем з новими агентами / цільовою терапією / клітинною терапією / алоТГСК. **Вплив на вибір терапії в нашій БЗ (поточний обсяг):** - **ХЛЛ/МЛЛ**: TP53-мут АБО del(17p) → протипоказання до хімоімунотерапії (FCR/BR); перевага фіксованій тривалості VenO (CLL14) над безперервним BTKi за деякими настановами. Закодовано в BIO-CLL-HIGH-RISK-GENETICS + RF-CLL-HIGH-RISK. - **МКЛ**: TP53-мут → передбачає невдачу хімоімунотерапії (результати інтенсивного R-CHOP/R-DHAP+аутоТГСК суттєво гірші); маршрутизація до BTKi-ГЦБ першої лінії (акалабрутиніб + R) незалежно від фізичного стану. Закодовано в RF-MCL-BLASTOID-OR-TP53. - **ММ**: del(17p) є частиною цитогенетичного комплексу високого ризику — визначає вибір квартету (D-VRd) над триплетом (VRd). Закодовано в BIO-MM-CYTOGENETICS-HR + RF-MM-HIGH-RISK-CYTOGENETICS. - **ДВКЛ** (майбутній напрям): передбачає невдачу R-CHOP; позначка для раннього розгляду CAR-T при 2L+. Ще не визначає алгоритм першої лінії. - **ГМЛ** (майбутній напрям, поки не в БЗ): TP53-мутантна ГМЛ має катастроф...
Де використовується
Diseases
DIS-ADRENOCORTICAL-CARCINOMA- Adrenocortical carcinoma (ACC)DIS-CHOROID-PLEXUS-CARCINOMA- Choroid plexus carcinomaDIS-GLIOMA-LOW-GRADE- Low-grade glioma (LGG, WHO grade 2 — IDH-mutant)DIS-LEIOMYOSARCOMA- Leiomyosarcoma (LMS)DIS-MPNST- Malignant peripheral nerve sheath tumor (MPNST)DIS-OSTEOSARCOMA- OsteosarcomaDIS-THYROID-ANAPLASTIC- Anaplastic thyroid carcinoma (ATC)
Handbook Chapters
HB-MM-1L- Multiple myeloma: first-line risk and fitness reasoning
Indications
IND-AML-1L-7-3-GO-CBF- IND-AML-1L-7-3-GO-CBFIND-CLL-ELDERLY-O-CHL- IND-CLL-ELDERLY-O-CHL
Біомаркер
BIO-AML-TP53-ADVERSE- TP53-mutated AML (adverse risk)BIO-CDKN2A- CDKN2A loss (homozygous deletion or biallelic inactivation)BIO-CLL-HIGH-RISK-GENETICS- CLL high-risk genetics (TP53 / del(17p) / IGHV-unmutated / complex karyotype)BIO-MDS-DEL-5Q- MDS with del(5q) cytogenetic abnormalityBIO-MM-CYTOGENETICS-HR- High-risk cytogenetics in multiple myeloma (FISH)BIO-P53-IHC-DYSPLASIA- p53 IHC for Barrett's HGD / dysplasia (aberrant expression)BIO-TP53-IHC- TP53 IHC (aberrant p53 expression pattern)BIO-TP53-R175H- TP53 R175H gain-of-function hotspotBIO-TP53-R248Q- TP53 R248Q DNA-contact hotspotBIO-TP53-R273H- TP53 R273H DNA-contact hotspotBIO-TP53-R282W- TP53 R282W partial loss-of-function hotspot
Клінічна застосовність
BMA-TP53-IHC-ENDOMETRIAL- p53-aberrant (p53-abn) endometrial carcinoma defines the highest-risk molecular subgroup...BMA-TP53-MUT-AML- TP53-mut AML — chemo-resistant, dismal outcomes (CR ~20% with 7+3, OS ~6 mo). Decitabine...BMA-TP53-MUT-BREAST- TP53 mutations in breast — common in TNBC and basal-like; adverse prognostic. Not directl...BMA-TP53-MUT-CERVICAL- TP53 mutation in CERVICAL — common, adverse prognostic; not directly targeted. Per usual...BMA-TP53-MUT-CLL- TP53-mut CLL contraindicates chemoimmunotherapy (FCR/BR). BTKi (acalabrutinib, zanubrutin...BMA-TP53-MUT-CRC- TP53 mutation in CRC — common, adverse prognostic; not directly targeted. Per usual algor...BMA-TP53-MUT-DLBCL-NOS- TP53-mut DLBCL — predicts R-CHOP failure; flag for early CAR-T pathway consideration at 2...BMA-TP53-MUT-ENDOMETRIAL- TP53 mutation in ENDOMETRIAL — common, adverse prognostic; not directly targeted. Per usu...BMA-TP53-MUT-ESOPHAGEAL- TP53 mutation in ESOPHAGEAL — common, adverse prognostic; not directly targeted. Per usua...BMA-TP53-MUT-GASTRIC- TP53 mutation in GASTRIC — common, adverse prognostic; not directly targeted. Per usual a...BMA-TP53-MUT-GBM- TP53 mutation in GBM — common, adverse prognostic; not directly targeted. Per usual algor...BMA-TP53-MUT-HCC- TP53 mutations in HCC (~30%) — adverse prognostic; not directly targeted.BMA-TP53-MUT-MCL- TP53-mut MCL — predicts chemoimmuno failure. Acalabrutinib + rituximab (TRIANGLE / ECHO)...BMA-TP53-MUT-MDS-HR- TP53-mut higher-risk MDS — dismal prognosis with HMA monotherapy (median OS ~6-10 mo). Ep...BMA-TP53-MUT-MELANOMA- TP53 mutation in MELANOMA — common, adverse prognostic; not directly targeted. Per usual...BMA-TP53-MUT-MM- TP53-mut / del(17p) myeloma — high-risk cytogenetics composite; quadruplet (D-VRd; PERSEU...BMA-TP53-MUT-NSCLC- TP53 mutations in NSCLC (~50%) — adverse prognostic; modulate ICI response (TP53+KRAS may...BMA-TP53-MUT-OVARIAN- TP53 mutation is near-universal in high-grade serous ovarian (~96%). Not actionable per s...BMA-TP53-MUT-PDAC- TP53 mutation in PDAC — common, adverse prognostic; not directly targeted. Per usual algo...BMA-TP53-MUT-PROSTATE- TP53 mutation in PROSTATE — common, adverse prognostic; not directly targeted. Per usual...BMA-TP53-MUT-RCC- TP53 mutation in RCC — common, adverse prognostic; not directly targeted. Per usual algor...BMA-TP53-MUT-SCLC- TP53 mutation in SCLC — common, adverse prognostic; not directly targeted. Per usual algo...BMA-TP53-MUT-UROTHELIAL- TP53 mutation in UROTHELIAL — common, adverse prognostic; not directly targeted. Per usua...BMA-TP53-R175H-AML- TP53 hotspot in AML — chemo-resistant pattern; venetoclax + HMA palliative; alloSCT prefe...BMA-TP53-R175H-BREAST- TP53 hotspot in TNBC / luminal — adverse prognostic; not directly targeted. Hotspot R175H...BMA-TP53-R175H-CLL- TP53 hotspot R175H in CLL — DNA-binding domain dominant-negative variant. Same therapeuti...BMA-TP53-R175H-DLBCL-NOS- TP53 hotspot in DLBCL — predicts R-CHOP failure; flag for early CAR-T. Hotspot R175H is a...BMA-TP53-R175H-MCL- TP53 hotspot in MCL — chemoimmuno failure predictor; acalabrutinib-based 1L preferred. Ho...BMA-TP53-R175H-MDS-HR- TP53 hotspot R175H in higher-risk MDS — dismal prognosis. Biallelic vs monoallelic per IP...BMA-TP53-R175H-MM- TP53 hotspot mutation in MM — high-risk genetic feature; quadruplet (D-VRd) preferred; CA...BMA-TP53-R175H-NSCLC- TP53 hotspot in NSCLC — adverse prognostic; modulates ICI response. Driven by usual NSCLC...BMA-TP53-R175H-OVARIAN- TP53 hotspot in HGSOC — near-universal disease feature; not directly targeted. Hotspot R1...BMA-TP53-R248Q-AML- TP53 hotspot in AML — chemo-resistant pattern; venetoclax + HMA palliative; alloSCT prefe...BMA-TP53-R248Q-BREAST- TP53 hotspot in TNBC / luminal — adverse prognostic; not directly targeted. Hotspot R248Q...BMA-TP53-R248Q-CLL- TP53 hotspot R248Q in CLL — DNA-binding domain dominant-negative variant. Same therapeuti...BMA-TP53-R248Q-DLBCL-NOS- TP53 hotspot in DLBCL — predicts R-CHOP failure; flag for early CAR-T. Hotspot R248Q is a...BMA-TP53-R248Q-MCL- TP53 hotspot in MCL — chemoimmuno failure predictor; acalabrutinib-based 1L preferred. Ho...BMA-TP53-R248Q-MDS-HR- TP53 hotspot R248Q in higher-risk MDS — dismal prognosis. Biallelic vs monoallelic per IP...BMA-TP53-R248Q-MM- TP53 hotspot mutation in MM — high-risk genetic feature; quadruplet (D-VRd) preferred; CA...BMA-TP53-R248Q-NSCLC- TP53 hotspot in NSCLC — adverse prognostic; modulates ICI response. Driven by usual NSCLC...- ... 19 ще
Тривожна ознака
RF-CLL-HIGH-RISK- CLL with high-risk genetics: TP53 mutation OR del(17p) OR IGHV-unmutated OR complex karyo...RF-CLL-TP53-DELETION-ACTIONABLE- CLL with del(17p) by FISH AND/OR TP53 mutation by NGS — ~5-10% at diagnosis, rising to ~3...RF-MCL-BLASTOID-OR-TP53- Mantle cell lymphoma with blastoid / pleomorphic morphology OR TP53 mutation OR del(17p)...RF-MPNST-HIGH-RISK-BIOLOGY- MPNST with adverse molecular / clinical features: biallelic CDKN2A/B loss (>80% high-grad...RF-THYROID-PAPILLARY-HIGH-RISK-BIOLOGY- Papillary thyroid carcinoma with adverse molecular / clinical features: BRAF V600E (~60%...