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Whole-exome sequencing insights into pulmonary artery sarcoma mimicking pulmonary embolism: a case report and review

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


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

Ying Wu,1 Jing Huang,1 Qin Wang,2 Mei Zhang,1 Yimin Luo,1 Xihua Wang,1 Xiaoli Zhu,1 Hongbing Liu2

1Department of Respiratory Medicine, Zhongda Hospital, School of Medicine, Southeast University, Nanjing 210009, People’s Republic of China; 2Department of Respiratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, People’s Republic of China

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

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