Sustained response to imatinib in patient with extraskeletal myxoid chondrosarcoma and novel KIT mutation.
Brooke JenningsJohn RiethTravis SnydersMohammed MilhemPublished in: BMJ case reports (2021)
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.
Keyphrases
- poor prognosis
- lymph node
- contrast enhanced
- case report
- radiation therapy
- long non coding rna
- magnetic resonance imaging
- chronic myeloid leukemia
- squamous cell carcinoma
- computed tomography
- high resolution
- small cell lung cancer
- pulmonary hypertension
- neoadjuvant chemotherapy
- genome wide
- patients undergoing
- magnetic resonance
- single cell
- dna methylation
- gene expression
- genome wide identification
- locally advanced
- radiation induced
- early stage
- transcription factor
- pet ct
- dual energy
- sentinel lymph node