已发表论文

全外显子组测序可检测肺动脉肉瘤模拟肺栓塞:病例报告和回顾

 

Authors Wu Y, Huang J, Wang Q, Zhang M, Luo Y, Wang X, Zhu X, Liu H

Received 16 April 2019

Accepted for publication 17 July 2019

Published 7 August 2019 Volume 2019:12 Pages 6227—6235

DOI https://doi.org/10.2147/OTT.S212416

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Ms Rachel Predeepa

Peer reviewer comments 3

Editor who approved publication: Dr Sanjay Singh

Abstract: Pulmonary artery sarcoma (PAS) is a rare and aggressive mesenchymal tumor that often mimics thromboembolic disease. Due to its rare and fatal nature, patients are often underdiagnosed or misdiagnosed. There is still no consensus regarding the diagnosis and treatment of PAS. We present a case of a 63 year old male misdiagnosed with pulmonary thromboembolism who received anticoagulant therapy. 18FDG positron emission tomography (PET) integrated with computed tomography (PET/CT) and subsequent surgery led to the final diagnosis of PAS. Whole exome sequencing of the tissue identified the genetic alterations profile of PAS: copy number variation (CNV) of KIT  and mutations of TP53 , PIK3CA , IL7R  and ATR . Treated with chemotherapy followed by anlotinib, the patient’s survival time was 8 months after firm diagnosis. To our knowledge, anlotinib used as a treatment for PAS has not been reported.
Keywords: pulmonary artery sarcoma, whole exome sequencing, anlotinib




Figure 1 (A) CT scan of the chest demonstrated a faint infiltrative shadow in...