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Lymphangioleiomyomatosis: a case report and review of diagnosis and treatment
Authors Liu Y, Guo Z, Zhao C, Li X, Liu H, Chen J
Received 3 January 2018
Accepted for publication 7 May 2018
Published 31 August 2018 Volume 2018:11 Pages 5339—5347
DOI https://doi.org/10.2147/OTT.S161360
Checked for plagiarism Yes
Review by Single-blind
Peer reviewer comments 3
Editor who approved publication: Prof. Dr. Geoffrey Pietersz
Yi Liu,* Zhibin Guo,* Chenlong Zhao, Xin Li, Hongyu Liu, Jun Chen
Department of Lung Cancer Surgery, Tianjin Key Laboratory of Lung Cancer Metastasis and Tumor Microenvironment, Tianjin Lung Cancer Institute, Tianjin Medical University General Hospital, Tianjin 300052, China
*These authors contributed equally to this work
Abstract: Lymphangioleiomyomatosis (LAM) is a rare disease that generally affects young women and involves the abnormal proliferation of smooth muscle-like cells (LAM cells) in the lungs (pulmonary LAM) and extrapulmonary sites (extrapulmonary LAM). This disease is rare in males. It is hard to distinguish between lung cancer and pulmonary LAM, especially during early stages. Herein, we present a case of a 66-year-old man with a small nodule in the right upper lobe that was first diagnosed as a lung malignancy using a chest CT scan. After a wedge dissection, a pathologist performed a histologic and immunohistochemical examination, and a diagnosis of pulmonary LAM was made. We further performed a 518-gene panel analysis using next-generation sequencing, and only three genes, BARD1, BLM, and BRCA2, were found to have mutations. We also provide a summary of the diagnosis and treatment of this disease.
Keywords: lymphangioleiomyomatosis, lung cancer, diagnosis and treatment
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