Diagnostic Enigma: Spindle Cell Sarcoma of the Aorta Presenting as Pulmonary Embolism and Chronic Anaemia
KeywordsPrimary aortic sarcoma, malignant aortic tumour, spindle cell, pulmonary embolism, Li-Fraumeni syndrome
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.
Fatima J, Duncan AA, Maleszewski JJ, Kalra M, Oderich GS, Gloviczki P, et al. Primary angiosarcoma of the aorta, great vessels, and the heart. J Vasc Surg 2013;57(3):756–764.
Wu ZY, Weng LQ, Chen ZG, Chen YX, Li YJ. Primary aortic sarcoma in arch and descending aorta: a case report and literature review. J Thorac Dis 2018;10(4):289–295.
Rusthoven CG, Liu AK, Bui MM, Schefter TE, Elias AD, Lu X, et al. Sarcomas of the aorta: a systematic review and pooled analysis of published reports. Ann Vasc Surg 2014;28(2):515–525.
Wright EP, Glick AD, Virmani R, Page DL. Aortic intimal sarcoma with embolic metastases. Am J Surg Pathol 1985;9(12):890–897.
Thalheimer A, Fein M, Geissinger E, Franke S. Intimal angiosarcoma of the aorta: report of a case and review of the literature. J Vasc Surg 2004;40(3):548–553.
Chiche L, Mongredien B, Brocheriou I, Kieffer E. Primary tumors of the thoracoabdominal aorta: surgical treatment of 5 patients and review of the literature. Ann Vasc Surg 2003;17(4):354–364.
Vacirca A, Faggioli G, Pini R, Freyrie A, Indelicato G, Fenelli C, et al. Predictors of survival in malignant aortic tumors. J Vasc Surg 2020;71(5):1771–1780.
Ueda M, Takeuchi Y, Ochiai J, Mabuchi C, Ujihira N. An autopsy case of intimal sarcoma of the abdominal aorta with bone metastasis and lymph node metastasis: a case report and review of the Japanese literature. Intern Med 2017;56(7):791–796.
Pucci A, De Martino A, Levantino M, Berchiolli R, Basolo F, Bortolotti U. Intimal sarcoma of the descending aorta mimicking aortitis aorta. Aorta (Stamford) 2016;4(4):142–145.
Saith SE, Duzenli A, Zavaro D, Apergis G. Intimal (spindle cell) sarcoma of the left atrium presenting with abnormal neurological examination. BMJ Case Rep 2015;2015:bcr2015209493.
Muturi A, Kotecha V, Ruturi J, Muhinga M, Waweru W. High-grade spindle cell sarcoma of the heart: a case report and review of literature. J Cardiothorac Surg 2015;10:46.
Yamamoto M, Hiroi M, Noguchi T, Orihashi K. Intramurally spreading aortic intimal sarcoma masquerading as ruptured aortic dissection. Interact Cardiovasc Thorac Surg 2018;26(2):328–330.
Shimogawara T, Ono S, Kobayashi K, Sasaki A, Shimizu H, Matsui J. Aortic sarcoma mimicking a mycotic aneurysm in the thoracoabdominal aorta. J Vasc Surg Cases InnovTech 2019;5(4):593–596.
Manmadhan A, Malhotra SP, Weinberg CR, Reyentovich A, Latson LA, Bhatla P, et al. Intimal spindle cell sarcoma masquerading as adult-onset symptomatic pulmonic stenosis: a case report and review of the literature. J Cardiothorac Surg 2017;12:93.
Feng L, Wang M, Yibulayin F, Zhang H, Yang YL, Ren F, et al. Spindle cell sarcoma: a SEER population-based analysis. Sci Rep 2018;8(1):5024.
Correa H. Li-Fraumeni syndrome. J Pediatr Genet 2016;5(2):84–88.
Kleihues P, Schäuble B, zur Hausen A, Estève J, Ohgaki H. Tumors associated with p53 germline mutations: a synopsis of 91 families. Am J Pathol 1997;150(1):1–13.
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