Lymphangioleiomyomatosis : a case report and review of diagnosis and treatment

  • 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.
Author:Yi Liu, Zhibin Guo, Chenlong Zhao, Xin Li, Hongyu Liu, Jun Chen
Pubmed Id:
Parent Title (English):OncoTargets and therapy
Publisher:Dove Medical Press
Place of publication:Albany, Auckland
Contributor(s):Geoffrey Pietersz
Document Type:Article
Year of Completion:2018
Date of first Publication:2018/08/31
Publishing Institution:Universit├Ątsbibliothek Johann Christian Senckenberg
Release Date:2019/03/07
Tag:diagnosis and treatment; lung cancer; lymphangioleiomyomatosis
Page Number:9
First Page:5339
Last Page:5347
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Institutes:keine Angabe Fachbereich / Extern
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Licence (German):License LogoCreative Commons - Namensnennung-Nicht kommerziell-Keine Bearbeitung 3.0