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Case Report: Gefitinib in EGFR 19del recurrent aggressive fibromatosis
Yanjing Guo1,2, Jingjing Wu3, Qianming Bai2,4
1Department of Medical Oncology, Fudan University Shanghai Cancer Center, Shanghai, China.
Abstract:
We present the first case of a male patient with an epidermal growth factor receptor (EGFR) 19del mutation who was diagnosed with intra-abdominal aggressive fibromatosis and familial adenomatous polyposis. We assessed the clinical response of the patient to first-generation EGFR-tyrosine kinase inhibitors (EGFR-TKIs). A remarkable sustained partial response was achieved with the application of gefitinib after progression on multiple lines of therapy. The main adverse event of gefitinib treatment in this patient was a grade 2 rash. (Funded by the National Natural Science Foundation of China [Grant No. 82003061] and the Shanghai Sailing Program [20YF1408800] to Yanjing Guo, the Natural Science Foundation of Shanghai [Grant No. 24ZR1412800] to Xin Liu).
Insights
This study reports a rare case of aggressive fibromatosis and familial adenomatous polyposis in a male patient with an epidermal growth factor receptor (EGFR) 19del mutation. Gefitinib, an EGFR-tyrosine kinase inhibitor, showed a significant response, with a grade 2 rash as the primary side effect.
Area of Science:
- Oncology
- Genetics
- Gastroenterology
Background:
- Aggressive fibromatosis and familial adenomatous polyposis are rare conditions.
- Epidermal growth factor receptor (EGFR) mutations are common in various cancers.
Observation:
- A male patient presented with intra-abdominal aggressive fibromatosis and familial adenomatous polyposis.
- The patient had an EGFR 19del mutation.
Findings:
- The patient achieved a remarkable sustained partial response to gefitinib, a first-generation EGFR-tyrosine kinase inhibitor.
- Gefitinib treatment resulted in a grade 2 rash as the main adverse event.
- This response was observed after the patient progressed on multiple lines of therapy.
Implications:
- This case highlights the potential efficacy of EGFR-TKIs in treating aggressive fibromatosis with specific EGFR mutations.
- Targeted therapy may offer a new treatment avenue for patients with rare combinations of these conditions.
- Further research is warranted to explore the role of EGFR-TKIs in fibromatosis.
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