A pulmonary enteric adenocarcinoma patient harboring a rare EGFR exon 19 P753S mutation: Case report and review

Abstract

Pulmonary enteric adenocarcinoma (PEAC) is a rare subtype of non–small cell lung cancer (NSCLC), accounting for about 0.6% of all primary lung adenocarcinoma. Although epidermal growth factor receptor (EGFR) mutation is common in primary lung adenocarcinoma, it is rarely reported in PEAC. This case report describes a PEAC patient with co-mutations of EGFR, Kirsten rat sarcoma viral oncogene (KRAS), and TP53, being treated with immunotherapy combined with chemotherapy. A 69-year-old man complained of cough and expectoration with bloody sputum for 2 weeks. The lung-enhanced CT scan showed a massive soft tissue shadow, about 46 × 35 mm in the lower lobe of the right lung. The neoplasm sample in the lower lobe of the right lung was obtained using CT-guided fine-needle aspiration (FNA). Immunohistochemical assays showed that the tumor was positive for CK7, CDX-2, C-MET, and villin. Gastroscopy and rectal colonoscopy had been performed respectively to exclude a diagnosis of colorectal adenocarcinoma. The patient was finally diagnosed with pulmonary intestinal adenocarcinoma. Next-generation sequencing (NGS) analysis showed a rare EGFR exon 19 missense mutation (c.2257C>T, p.P753S), KRAS exon 2 missense mutation (c.35G>T, p.G12V), and TP53 exon 5 missense mutation (c.401T>C, p.F134S). The lung-enhanced CT scan showed that the tumor shrank after four cycles of chemotherapy combined with immunotherapy. We hope that this case report can increase the understanding of this rare type of tumor and provide new molecular indications for diagnosis and individualized treatment. Furthermore, the combination of chemotherapy and immunotherapy seems to be an effective therapy for PEAC. Whether the use of immunotherapy can provide clinical benefits needs to be further explored with more samples in future studies.