Journal article
Sustained response to imatinib in patient with extraskeletal myxoid chondrosarcoma and novel KIT mutation
BMJ case reports, Vol.14(8), p.e242039
08/26/2021
DOI: 10.1136/bcr-2021-242039
PMCID: PMC8395296
PMID: 34446510
Abstract
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.
Details
- Title: Subtitle
- Sustained response to imatinib in patient with extraskeletal myxoid chondrosarcoma and novel KIT mutation
- Creators
- Brooke Jennings - University of Iowa Hospitals and ClinicsJohn Rieth - University of Iowa Hospitals and ClinicsTravis Snyders - University of IowaMohammed Milhem - University of Iowa
- Resource Type
- Journal article
- Publication Details
- BMJ case reports, Vol.14(8), p.e242039
- DOI
- 10.1136/bcr-2021-242039
- PMID
- 34446510
- PMCID
- PMC8395296
- NLM abbreviation
- BMJ Case Rep
- ISSN
- 1757-790X
- eISSN
- 1757-790X
- Language
- English
- Date published
- 08/26/2021
- Academic Unit
- Hematology, Oncology, and Blood & Marrow Transplantation; Internal Medicine
- Record Identifier
- 9984359862802771
Metrics
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