Primary pulmonary angiosarcoma is a rare type of malignant vascular tumour characterised by proliferation of tumour cells with endothelial features. Up to date, only sixteen cases have been reported in English Literature. Treatment modalities vary from none to surgery, chemotherapeutic regimens, radiotherapy or immunotherapy, but none of them have been shown to be effective. Unfortunately, these tumours are usually very aggressive and overall mortality is very high. We present two cases of patients with a diagnosis of primary pulmonary angiosarcoma, the largest case series ever described, and a review of the scientific literature.
A 49,XXXXX fetus was detected in amniotic fluid cell cultures from a 39-year-old mother. On ultrasonography, growth retardation and bilateral radioulnar synostosis were found. Additional clinical manifestations were mild facial anomalies and hypoplastic ovaries depleted of oocytes. Molecular analysis showed that this aneuploidy arose by successive maternal non-disjunction.
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