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|Ref Type||Journal Article|
|Authors||Jennings B, Rieth J, Snyders T, Milhem M|
|Title||Sustained response to imatinib in patient with extraskeletal myxoid chondrosarcoma and novel KIT mutation.|
|Journal||BMJ case reports|
|Date||2021 Aug 26|
|Abstract Text||A 55-year-old woman presented with a 3-month history of right groin swelling, discomfort and impaired mobility. On examination, a palpable mass was noted both to the right of midline in the lower abdomen and in the right groin. MRI of the pelvis showed two masses involving the anterior abdominal wall and right groin, as well as lymph node involvement. CT imaging revealed multiple bilateral pulmonary metastases. Pathology demonstrated a myxohayline stroma morphology. Tumour was also notable for NR4A3 gene region rearrangement and mutation in KIT exon 11 at position c.1669 T>G. Based on these findings, she was diagnosed with extraskeletal myxoid chondrosarcoma (EMC). 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.|
|Molecular Profile||Treatment Approach|
|Gene Name||Source||Synonyms||Protein Domains||Gene Description||Gene Role|
|Therapy Name||Drugs||Efficacy Evidence||Clinical Trials|
|Drug Name||Trade Name||Synonyms||Drug Classes||Drug Description|
|Gene||Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|KIT W557G||extraskeletal myxoid chondrosarcoma||predicted - sensitive||Imatinib||Case Reports/Case Series||Actionable||In a clinical case study, Gleevec (imatinib) treatment resulted in stable disease lasting at least 3 years in a patient with extraskeletal myxoid chondrosarcoma harboring KIT W557G (PMID: 34446510).||34446510|