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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
Author(s) -
Yasuhiro Sakai,
Takashi Yamasaki,
Yoshito Kusakabe,
Daisuke Kasai,
Yoshikazu Kotani,
Yoshihiro Nishimura,
Tomoo Itoh
Publication year - 2013
Publication title -
multidisciplinary respiratory medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.72
H-Index - 28
eISSN - 2049-6958
pISSN - 1828-695X
DOI - 10.4081/mrm.2013.545
Subject(s) - adenocarcinoma , epidermal growth factor receptor , carcinoembryonic antigen , cancer research , medicine , lung cancer , anaplastic lymphoma kinase , carcinoma , tyrosine kinase , large cell , tyrosine kinase inhibitor , pathology , epidermal growth factor , oncology , cancer , receptor , malignant pleural effusion
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.

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