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BIOMARKER:

NR4A3 rearrangement + KIT mutation

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Other names: Nuclear receptor subfamily 4 group A member 3, Mitogen-induced nuclear orphan receptor, Neuron-derived orphan receptor, Nuclear hormone receptor NOR-1, KIT, KIT proto-oncogene receptor tyrosine kinase, C-Kit, CD117, PBT, SCFR, Stem Cell Factor Receptor, V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
Entrez ID:
over2years
Sustained response to imatinib in patient with extraskeletal myxoid chondrosarcoma and novel KIT mutation. (PubMed, BMJ Case Rep)
The patient has been on imatinib, a tyrosine kinase inhibitor with activity against KIT, for 3 years with stable disease. Metastatic EMC is generally treated with surgical resection and perioperative radiation therapy with adjuvant chemotherapy and is associated with poor prognosis.
Clinical • Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • NR4A3 (Nuclear receptor subfamily 4 group A member 3)
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KIT mutation • KIT exon 11 mutation • NR4A3 rearrangement + KIT mutation
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imatinib