Key result
Whole-exome sequencing of a pulmonary artery sarcoma identified genetic alterations in KIT, TP53, PIK3CA, IL7R, and ATR, and treatment with anlotinib yielded an 8-month survival.
Why the study?
Pulmonary artery sarcoma is a rare and aggressive tumor often misdiagnosed as thromboembolic disease, with no consensus regarding its diagnosis and treatment.
Case Report (n=1)
This case report provides the first evidence of using anlotinib for pulmonary artery sarcoma and highlights the utility of whole exome sequencing in identifying genetic alterations in this rare tumor.
Clinicians should consider PAS in atypical or refractory pulmonary embolism; this case report leaves open standardized diagnostic protocols.
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. 18 FDG 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.
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Wu et al. (2019) conducted a case report in Pulmonary artery sarcoma (n=1). Whole-exome sequencing and anlotinib was evaluated on Survival time and genetic alterations. Whole-exome sequencing of a pulmonary artery sarcoma identified genetic alterations in KIT, TP53, PIK3CA, IL7R, and ATR, and treatment with anlotinib yielded an 8-month survival.
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