Diagnostic Enigma: Spindle Cell Sarcoma of the Aorta Presenting as Pulmonary Embolism and Chronic Anaemia

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.

Intimal angiosarcoma of the descending aorta presenting as atheroembolism: case report and description of intravascular biopsy

“…Primary aortic tumors are extremely rare and frequently correspond with malignant mesenchymal tumors. 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 Few studies have been reported (<100 cases since 1998), with the latest a case series with a review of the literature by Böhner et al. 4 , 9 Because of its deep location, silent growth, and clinical and imaging findings that mimic thrombosis and atherosclerosis, its diagnosis can be difficult.…”

“…Several studies have shown that even metastatic aortic sarcomas can be controlled for some time with radiotherapy or chemotherapy (doxorubicin and ifosfamide) if the metastasis is limited, if the tumor is not resectable, and in embolic situations. 4 , 5 , 6 , 7 , 8 , 9 Even with adjuvant treatment, these entities have a very poor prognosis (worse with thoracic aortic involvement), with a median survival of 14 to 16 months. The cause of death for 80% of these patients is metastatic disease (ie, bones, kidneys, liver, adrenal glands, lungs).…”

“…Angiosarcomas can be classified according to their location in the arterial wall (mural, 20%; intimal, 70%; or mixed) or their histologic type (sarcoma, 29%; malignant fibrous histiocytoma, 17%; angiosarcoma, 11%; leiomyosarcoma). 1 , 5 , 6 As a clinical manifestation, it most often debuts with embolic phenomena (eg, cerebral, lower limb ischemia, visceral) or renovascular arterial hypertension and, rarely, presents as spontaneous rupture of the aorta.…”

Mesenteric and myocardial ischemia revealing lower limb sarcoma

“…There are few reports of distant metastasis of LMS in the extremities. As for the distal embolization of sarcoma, there are reports of sarcoma of the aorta [13] , vena cava [14] , and heart [15] , causing pulmonary embolism at close range. More distantly, there have been reports of pulmonary embolism from renal sarcoma [16] and upper limb arterial embolization from aortic arch sarcoma [17] .…”