Tumor estromal gastrointestinal (GIST)
Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.
| ID | DIS-GIST |
|---|---|
| Tipo | Enfermedad |
| Aliaces | GISTTumor del estroma gastrointestinalTumor de ICCГастроінтестинальна стромальна пухлина (GIST) |
| Situación | reviewed 2026-04-27 | pending_clinical_signoff |
| Enfermedades | Ninguna declarada |
| Fuentes | SRC-NCCN-MELANOMA-2025 |
Informational support. All recommendations must be verified by a qualified oncologist. Engineering checks are not clinical validation or treatment approval.
| icd_o_3_morphology | 8936/3 |
|---|---|
| icd_o_3_topography | ["C15", "C16", "C17", "C18", "C19", "C20", "C26"] |
| icd_10 | C49 |
| who_classification | WHO Soft Tissue Tumours 5th ed (2020): Gastrointestinal stromal tumour |
Notas
Genotype-driven therapy is the defining feature of GIST. Decision tree: - KIT exon 11 mutant (~50%): imatinib 400 mg/day; best prognosis; after imatinib failure → sunitinib → regorafenib → ripretinib. - KIT exon 9 mutant (~10%, predominantly small-bowel): imatinib 800 mg/day from start (B2222 / EORTC-62005 dose effect); shorter PFS than exon 11. - PDGFRA D842V (~7%, gastric): imatinib RESISTANT — avapritinib 1L (NAVIGATOR / VOYAGER); ORR ~88% historical. - PDGFRA non-D842V exon 18 / exon 12: imatinib-sensitive. - KIT/PDGFRA wild-type SDH-deficient (~5–10%, gastric, young patients): refractory to imatinib; sunitinib / regorafenib partial; consider clinical trial. Carney triad and Carney-Stratakis fall here. - NF1-mutant (small bowel, multifocal): refractory to TKIs; surgery + MEK inhibitor (selumetinib) being studied. Risk stratification (Joensuu / NIH consensus / AFIP) on size, mitotic rate, primary site, rupture → 3 yr adjuvant imatinib (≥3 cm + mitoses ≥5/50 HPF, or rupture, or non-gastric primary) is standard; 6 yr extended in highest-risk per PERSIST-5 / SSG-XXII follow-up. Resistance: secondary KIT mutations in exons 13 / 14 (ATP-binding) or 17 / 18 (activation loop) emerge d...
Utilizado por
Relevancia terapéutica
BMA-KIT-D816V-GIST- El KIT D816V en GIST es raro como mutación primaria (más típica de la mastocitosis sistémica), pero...BMA-KIT-EXON11-GIST- KIT exon 11 mutation in GIST: imatinib 400 mg/day is standard 1L (B2222, Demetri NEJM 200...BMA-KIT-EXON13-17-GIST- Mutaciones secundarias del KIT después del racimo de fallo de imatinib en el exón 13/14 (bolso de unión ATP...BMA-KIT-EXON9-GIST- KIT exón 9 GIST tiene más corto PFS sobre imatinib 400 mg vs exón 11Imatinib 800 mg/day (división...BMA-NTRK-FUSION-GIST- La fusión NTRK en GIST es rara y se limita a KIT/PDGFRA tipo salvaje GIST (que es en sí mismo ~1...BMA-PDGFRA-D842V-GIST- PDGFRA D842V in GIST is imatinib-RESISTANT (distinct from imatinib-sensitive PDGFRA non-D...BMA-PDGFRA-EXON12-GIST- PDGFRA exon 12 mutations in GIST are imatinib-sensitive. Imatinib 400 mg/day is standard...BMA-PDGFRA-EXON14-GIST- PDGFRA exon 14 mutations in GIST are very rare and are imatinib- sensitive. Treatment is...BMA-PDGFRA-EXON18-NON-D842-GIST- PDGFRA non-D842V exon 18 mutations in GIST are imatinib-SENSITIVE (distinct from D842V)....
Algoritmos
ALGO-GIST-1L- ALGO-GIST-1LALGO-GIST-2L- ALGO-GIST-2LALGO-STS-ADVANCED-1L- ALGO-STS-ADVANCED-1L
Enfermedad
DIS-PARAGANGLIOMA- Paraganglioma (PGL)
Indicación
IND-GIST-1L-AVAPRITINIB-PDGFRA-D842V- IND-GIST-1L-AVAPRITINIB-PDGFRA-D842VIND-GIST-1L-IMATINIB- IND-GIST-1L-IMATINIBIND-GIST-2L-SUNITINIB- IND-GIST-2L-SUNITINIBIND-GIST-4L-RIPRETINIB- IND-GIST-4L-RIPRETINIB
Cuestionarios
QUEST-GIST-1L-STUB- Tumor estromal gastrointestinal — primera línea
Señal de alerta
RF-GIST-FRAILTY-AGE- Age ≥75 with ECOG ≥2 or ≥2 comorbidities — high-dose imatinib 800 mg (KIT exon 9) and TKI...RF-GIST-HIGH-RISK-BIOLOGY- Genotipo adverso o riesgo anatómico en GIST: PDGFRA D842V (resistente a imatinib — avapritinib...RF-GIST-INFECTION-SCREENING- Infección activa o latente que requiere resolución / profilaxis antes de iniciar imatinib...RF-GIST-ORGAN-DYSFUNCTION- Disfunción de los órganos basales que excluye el imatinib estándar / sunitinib / regorafenib / av...RF-GIST-PDGFRA-D842V- mutación de sustitución PDGFRA D842V en GIST avanzado o metastásico. El PDGFRA D842V varia...RF-GIST-TRANSFORMATION-PROGRESSION- Progreso radiográfico en imatinib (progreso RECIST o nueva lesión), nódulo focal...
Fuentes
SRC-NCCN-GIST-2025- Directrices de Práctica Clínica de NCCN - Tumores Stromales gastrointestinales (GIST)