Lymphangioleiomyomatosis: a case report and review of diagnosis and treatment.

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.

journal_name

Onco Targets Ther

journal_title

OncoTargets and therapy

authors

Liu Y,Guo Z,Zhao C,Li X,Liu H,Chen J

doi

10.2147/OTT.S161360

subject

Has Abstract

pub_date

2018-08-31 00:00:00

pages

5339-5347

issn

1178-6930

pii

ott-11-5339

journal_volume

11

pub_type

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