Diagnostic Enigma: Spindle Cell Sarcoma of the Aorta Presenting as Pulmonary Embolism and Chronic Anaemia
  • Gabriella A Conte
    Department of Medicine, Jersey Shore University Medical Center, Hackensack Meridian Health, Neptune, NJ, USA
  • Marjan Alidoost
    Department of Medicine, Jersey Shore University Medical Center, Hackensack Meridian Health, Neptune, NJ, USA
  • Mitchel S Devita
    Department of Medicine, Jersey Shore University Medical Center, Hackensack Meridian Health, Neptune, NJ, USA
  • Jonathan S Harmon
    Department of Medicine, Jefferson Health New Jersey, Jefferson University Hospital, Stratford, NJ, USA
  • Jake W Schuler
    Saint George’s University School of Medicine, Grenada, West Indies
  • Fernando Brea
    University de Santiago de Compostela, Galicia, Spain
  • Taliya Farooq
    Department of Pathology, Jersey Shore University Medical Center, Hackensack Meridian Health, Neptune, NJ, USA
  • Angelo A Chinnici
    Department of Medicine, Jersey Shore University Medical Center, Hackensack Meridian Health, Neptune, NJ, USA

Keywords

Primary aortic sarcoma, malignant aortic tumour, spindle cell, pulmonary embolism, Li-Fraumeni syndrome

Abstract

Primary aortic sarcoma is a rare and aggressive malignancy with only approximately 190 cases reported in the literature. While angiosarcoma and intimal sarcomas represent an estimated 67.7% of malignant aortic tumours, spindle cell sarcomas are even more exclusive, consisting of only 0.9% of malignant aortic tumours. Differentiated from other malignant aortic tumours, spindle cell sarcomas are of mesenchymal origin and usually express vimentin and osteopontin. Clinical presentations are variable and nonspecific, ranging from back pain, abdominal pain or elevated blood pressure, misleading to differentials like pulmonary emboli or aortic aneurysms such as in our case here. In this article, we discuss the finding of an extremely rare aortic sarcoma masquerading as a pulmonary embolism. The patient underwent surgical resection; however, the course was complicated by the development of brain metastases and intracranial haemorrhage. The literature is expanding regarding the evolution of adjuvant chemotherapy and radiation therapy in the treatment of these patients. The exact pathogenesis of spindle cell sarcomas is unknown but thought to be related to the MDM2-p53 pathway. The development of spindle cell sarcomas may be related to Li-Fraumeni syndrome, which should be on the differential for these patients. This case highlights the importance of identifying aortic sarcomas in patients who present with signs and symptoms of peripheral embolization as the diagnosis can be easily misconstrued for thrombus or aortic aneurysm, leading to a delay in proper and timely management. We herein emphasize that aortic sarcomas should be included in the clinician’s working differential due to the poor prognosis and outcomes that these aggressive tumours carry.

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    Published: 2020-09-15
    Issue: 2020: Vol 7 No 12 (view)


    How to cite:
    1.
    Conte GA, Alidoost M, Devita MS, Harmon JS, Schuler JW, Brea F, Farooq T, Chinnici AA. Diagnostic Enigma: Spindle Cell Sarcoma of the Aorta Presenting as Pulmonary Embolism and Chronic Anaemia. EJCRIM 2020;7 doi:10.12890/2020_001832.

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