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Published on: June 26, 2019
Advanced lung adenocarcinoma with coexistent HER2 mutation and amplification and response to afatinib: a case report
Xiaona Liu1, Yuqing Cao1, Yuxin Li1
1Department of Pathology, The First Hospital of Jilin University, Changchun 30021, China.
Abstract:
Human epidermal growth factor receptor 2 (HER2) mutation and amplification are distinct molecular targets in lung cancer, but the specific targeted therapy for their coexistence is undetermined. Personalized targeted therapy is based on mutation type, with different mutations requiring different treatment. A 64-year-old Chinese woman was diagnosed with advanced lung adenocarcinoma. She was determined as having insertion mutations in exon 20 of the HER2 gene (c.2326G > TTGT) by the amplification refractory mutation system (ARMS) and HER2 gene amplification (HER2/CEP17 ratio 2.6) by fluorescence in situ hybridization (FISH). Thereafter, she was treated with afatinib as first-line therapy, to which she responded. After 2 months, the tumor lesion decreased in size. Computed tomography (CT) follow-up showed stable lung lesions, although she later developed multiple brain metastases and subsequently died of brain failure. Lung adenocarcinoma with coexistent HER2 mutation and amplification is relatively uncommon and has no reported cases on targeted therapy. This case was important because it showed effective response to afatinib and provides evidence to help clinicians identify the therapeutic regimen for such patients.
Insights
This case study shows a patient with advanced lung adenocarcinoma and coexistent HER2 mutation and amplification. Afatinib demonstrated initial effectiveness, offering insights for treating this rare condition.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Human epidermal growth factor receptor 2 (HER2) alterations are key targets in lung cancer.
- The optimal targeted therapy for combined HER2 mutation and amplification remains unclear.
- Personalized medicine necessitates tailored treatments based on specific mutation profiles.
Observation:
- A 64-year-old Chinese woman presented with advanced lung adenocarcinoma.
- HER2 exon 20 insertion mutation and gene amplification were identified.
- The patient received afatinib as first-line targeted therapy.
Findings:
- Afatinib treatment led to initial tumor response and lesion size reduction.
- Despite initial benefits, the patient developed brain metastases and ultimately succumbed to brain failure.
- This case represents a rare instance of coexistent HER2 mutation and amplification in lung adenocarcinoma with a documented response to afatinib.
Implications:
- This case provides valuable clinical evidence for the efficacy of afatinib in lung adenocarcinoma with concurrent HER2 mutation and amplification.
- It highlights the need for precise molecular profiling to guide targeted therapy selection.
- Further research is warranted to establish definitive treatment guidelines for this specific molecular subtype.
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