Large-cell neuroendocrine carcinoma of lung with epidermal growth factor receptor (EGFR) gene mutation and co-expression of adenocarcinoma markers: a case report and review of the literature
| Autor: | Takashi Yamasaki, Tomoo Itoh, Yoshikazu Kotani, Yasuhiro Sakai, Daisuke Kasai, Yoshihiro Nishimura, Yoshito Kusakabe |
|---|---|
| Jazyk: | angličtina |
| Předmět: |
Pulmonary and Respiratory Medicine
Pathology medicine.medical_specialty biology Epidermal growth factor receptor business.industry Tyrosine kinase inhibitor Case Report Gene mutation medicine.disease EGFR Gene Mutation Small-cell carcinoma respiratory tract diseases Carcinoembryonic antigen medicine Carcinoma biology.protein Adenocarcinoma Lung cancer business Large-cell neuroendocrine carcinoma |
| Zdroj: | Multidisciplinary Respiratory Medicine |
| ISSN: | 2049-6958 |
| DOI: | 10.1186/2049-6958-8-47 |
| Popis: | Purpose: A high rate of response to treatment with epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) has been observed in certain patients (women, of East Asian ethnicity, with non-smoking history and adenocarcinoma histology) with mutations in exons 18 to 21 of the tyrosine kinase domain of EGFR. Some cases of high-grade neuroendocrine carcinoma of the lung harboring mutations have been sporadically reported. Methods: We describe the case of a 78-year-old woman with large-cell neuroendocrine carcinoma of the lung, with mutation in exon 21 L858R and co-expression of adenocarcinoma markers. Results: A mass (3.0 cm in diameter) was identified in the inferior lobe of the left lung, accompanied by metastases into ipsilateral mediastinal lymph nodes and elevations of serum pro-gastrin-releasing peptide and carcinoembryonic antigen. Initial transbronchial brushing cytology suggested high-grade neuroendocrine carcinoma favoring small-cell carcinoma in poorly smeared and degenerated preparations, and revealed exon 21 L858R mutation. Re-enlargement of the cancer and bone metastases was observed after chemotherapy, and further testing suggested large-cell neuroendocrine carcinoma with immunoreactivity to markers of primary lung adenocarcinoma and L858R mutation. High-grade neuroendocrine carcinoma with mutations in the tyrosine kinase domain of EGFR may be associated with adenocarcinoma, as reviewed from the literature and may also apply to our case. Conclusions: EGFR-TKI could provide better quality of life and survival in patients with advanced or relapsed high-grade neuroendocrine carcinoma with EGFR gene mutations. Further studies in this respect are warranted. |
| Databáze: | OpenAIRE |
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