P40 and TTF‑1 double‑expressing non‑small cell lung cancer with EML4‑ALK and PIK3CA gene mutations: A case report and review of the literature

Cai,Ying; Liu,Hongsheng; Chen,Xiaodan; Yang,Junjie; Huang,Bin

doi:10.3892/ol.2022.13645

P40 and TTF‑1 double‑expressing non‑small cell lung cancer with EML4‑ALK and PIK3CA gene mutations: A case report and review of the literature

Authors:
- Ying Cai
- Hongsheng Liu
- Xiaodan Chen
- Junjie Yang
- Bin Huang
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Affiliations: Department of Respiratory Medicine, The First People's Hospital of Xiaoshan District, Hangzhou, Zhejiang 311200, P.R. China, Department of Pathology, The First People's Hospital of Xiaoshan District, Hangzhou, Zhejiang 311200, P.R. China
Published online on: December 20, 2022 https://doi.org/10.3892/ol.2022.13645
Article Number: 59
Copyright: © Cai et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

P40 and thyroid transcription factor‑1 (TTF‑1) dual expression in non‑small cell lung cancer (NSCLC) is a rare occurrence. However, the presence of EML4‑ALK and PIK3CA gene mutations in this type of cancer is unknown. The present study describes the case of a 38‑year‑old male patient who had never smoked. A 4.5‑cm mass adjacent to his right upper mediastinum was detected by a computed tomography (CT) scan of the chest. Biopsy of the level four lymph nodes in the right mediastinum revealed microscopic morphological features typical of high‑grade NSCLC. Immunohistochemical findings resembled those reported previously for several cases of NSCLC with the dual expression of P40 and TTF‑1 markers. In addition, echinoderm microtubule‑associated protein‑like 4‑anaplastic lymphoma kinase (EML4‑ALK) and phosphatidylinositol‑4,5‑bisphosphate 3‑kinase catalytic subunit a (PIK3CA) gene mutations were detected using high‑throughput next‑generation sequencing. To the best of our knowledge, this is the first report of NSCLC with the expression of P40 and TTF‑1 as well as EML4‑ALK and PIK3CA gene mutations. The presence of this type of tumor should be considered in patients with NSCLC who have never smoked and may have unique clinicopathological features.

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