Well-differentiated angiosarcoma of spleen: a teaching case mimicking hemagioma and cytogenetic analysis with array comparative genomic hybridization

Abstract

Primary splenic angiosarcoma is extremely rare but aggressive malignant vascular neoplasm. Here, we report a case of vascular tumor in spleen that was initially misinterpreted as hemangioma. Two years after splenectomy, the patient admitted again with aggravated abdomen pain and severe anemia. The magnetic resonance imaging (MRI) scan showed widely metastases. The ensuing biopsy for lesion both in liver and in bone marrow showed the similar pathological findings as that in spleen, which supported the final diagnosis of well-differentiated splenic angiosarcoma with extensive metastases. The patient was dead in 3 months after discharge without chemotherapy. The copy number changes for spleen lesion detected by array comparative genome hybridization showed copy number gain at 11q23.2, 11q24.3, 12q24.33, 13q34, copy number loss at 1q24.2-q31.3, 1q41-q42.2, 1 q42.3-q43, 2q36.3-q37.3, 2q37.7, 3q13.33-q26.2, 3q28 - q29, 9p11.2, 13q11, 15q11, homozygous copy loss at 8p11.22, 22q11.23. Less than 200 cases of splenic angiosarcoma have been published in literature of English. To the best of our knowledge, this is the first time analyzed cytogenetic alteration in a well-differentiated primary splenic angiosarcoma.

A primary splenic angiosarcoma hepatic metastasis after splenectomy and its genomic alteration profile

“…Genomic profile is a technique for detecting cellular DNA by collecting fresh tissue sections from the patient. The PSA can appear multiple cytogenetic changes represented by the mutations of chromosomal copies, [18] as well as the mutant gene including K-ras, p53, PIK3CA, TP53, PTEN, PLCG1, Hras, etc. [19] In our case, the patient's genomic profile showed PIK3CA, FOS, MCL1, and PIK3R1 mutation and were not the same as the previous reports.…”

Primary splenic angiosarcoma: a rare entity often associated with rupture and hemoperitoneum

“…PSA is thought to arise from the splenic red pulp’s immature endothelial-type cells 11. This entity usually is highly aggressive with a metastatic rate ranging from 69% to 100%; metastases are mostly seen in the liver, lungs, lymph nodes, and bones 1 , 12. The dismal prognosis may reflect the indolent presentation with a relatively late-stage diagnosis.…”

“…Serum lactate dehydrogenase (LDH) value is often elevated, and consumption coagulopathy has been reported 12 , 20. Splenomegaly is present in 85% of cases and may be the single manifestation 1 , 12. In up to 30% of cases, the first presentation consists of an acute abdomen with uncontrolled hemorrhagic shock due to spontaneous splenic rupture 7 , 12…”

“…Primary splenic angiosarcoma (PSA) is a malignant mesenchymal-derived elongated endothelial cell originating from the splenic sinusoidal endothelial cells 1. PSA is a rapidly proliferating, highly infiltrating, and widely spreading neoplasm, despite its insidious, often asymptomatic, presentation 2.…”