Epithelioid hemangioendothelioma is a rare vascular origin tumor which usually occurs in soft tissues, liver, and lung. It usually affects adult women and presents as multiple hepatic nodules with mainly peripheral distribution. It is difficult to diagnose and treat because of non-specific clinical manifestations and findings on the imaging study. Moreover, pathological misdiagnosis is common. We report a case of this rare tumor that was detected incidentally. Final diagnosis was based on histological evidence. A 52-years old man suffered from right upper quadrant abdominal pain for 3 months, and was initially misdiagnosed as a metastatic carcinoma. Physical examination revealed superior cervical lymphadenopathy with mild hepatomegaly. Finally, hepatic epithelioid hemangioendothelioma was diagnosed on the basis of positive immunohistochemical staining for factor VIII, CD34, and VEGF. Our case highlights the importance of a histological diagnosis to avoid misdiagnosis.
Antigens, CD34/analysis/immunology ; Carcinoma/secondary ; Diagnosis, Differential ; Factor VIII/analysis/immunology ; Hemangioendothelioma, Epithelioid/*diagnosis/pathology ; Humans ; Immunohistochemistry ; Liver Neoplasms/*diagnosis/pathology ; Male ; Middle Aged ; Positron-Emission Tomography

The aim of current study was to detect intron 22 inversion of factor VIII gene in severe hemophilia A (HA) patients and screen the carriers of the gene inversion. Fifty-five cases of severe HA were involved and factor VIII gene inversion was detected and identified by long distance-PCR (LD-PCR) and 0.6% agarose gel electrophoresis. The 11 kb and 12 kb bands indicate the factor VIII gene inversion and non-inversion, respectively. Occurring of both 11 kb and 12 kb bands indicates a carrier of the inversion. The results showed that factor VIII gene inversion existed in 22 out of 55 cases, which accounted for about 40% of total detected patients. Five carriers of factor VIII gene inversion were diagnosed from the members in 15 families. In conclusion, LD-PCR assay is a simple, rapid and accurate method for detection of factor VIII gene inversion, and this approach is helpful in screening, carrier testing, and prenatal diagnosis of severe hemophilia A.
Adolescent ; Adult ; Antigens ; analysis ; Child ; Child, Preschool ; Chromosome Inversion ; Factor VIII ; genetics ; Hemophilia A ; blood ; genetics ; Humans ; Infant ; Male ; Polymerase Chain Reaction ; methods ; von Willebrand Factor ; immunology