A Case of Vanishing Metastatic Mass: Right Atrial Mass in the Setting of Primary Epithelioid Hemangioendothelioma of the Spine.

Epithelioid hemangioendothelioma (EHE) is a rare low-grade vascular neoplasm that is characterized as intermediate between benign hemangioma and high-grade angiosarcoma affecting 1 in 1,000,000 people worldwide. It has been described throughout the body with lung, liver, skin, and bone being the most frequent sites. Primary EHE of the spine has been reported in 56 cases so far with no correlation of age and sex. Our case highlights a rare clinical presentation, etiopathogenesis, diagnosis, and treatment of EHE of the spine with metastasis to the right atrium. This is the first documented case of EHE of the spine with metastatic spread to the heart treated with bevacizumab leading to resolution of the heart metastatic mass. Further studies are warranted to develop a treatment formula for this rare tumor, to consider combination chemotherapy and new adjuvant targeted immunotherapies to prevent progression of disease.

Histone deacetylase in chronic lymphocytic leukemia.

BACKGROUND: Elevated histone deacetylase (HDAC) isoenzyme levels have been described in patients with carcinomas and leukemias. HDAC inhibitors (HDACi) have shown promise in the treatment of carcinomas and are currently under intense research. To make better use of HDACi in treating chronic lymphocytic leukemia (CLL), HDAC isoenzyme levels were studied. METHODS: Quantitative reverse transcriptase polymerase chain reaction for HDAC isoenzyme was measured in 32 patients with CLL and compared with 17 normal volunteer controls. ZAP-70, CD38 and CD44 were also assayed and correlated to HDAC isoenzyme levels. RESULTS: The results showed: (1) HDAC isoenzyme levels in CLL were significantly increased in class I including HDAC1 and HDAC3, in class II including HADC6, HDAC7, HDAC9 and HDAC10, and in class III including SIRT1 and SIRT6; (2) higher expression of HDAC isoenzyme levels was found in ZAP-70+ compared to ZAP-70- patients, and CD44 expression levels were correlated with HDAC isoenzyme expression levels in the majority of HDAC classes. CONCLUSIONS: These results suggest: (1) in CLL, elevated HDAC isoenzyme activity is not restricted to one class, and therefore, HDACi therapy may need to be directed to more than one specific class of HDAC; (2) higher HDAC expression activity may indicate a poor prognosis and more advanced disease stage (through indirect evidence), since higher values were found in patients with ZAP-70+ and higher CD44 expression levels.

Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A-->T) in an African American male of West Indies descent.

An African American male of West Indies descent was diagnosed to have elevated transferrin saturation, hyperferritinemia, severe iron deposition in hepatocytes, and hepatic cirrhosis at age 4. He was treated with serial phlebotomy to maintain a normal serum ferritin concentration thereafter. We evaluated him at age 23 and confirmed that he had normal serum ferritin levels, severe iron deposition in hepatocytes, hepatic cirrhosis, and portal hypertension. He did not have endocrinopathy, cardiomyopathy, or arthropathy. He was homozygous for the novel hemojuvelin (HJV) premature stop-codon mutation R54X (exon 3; c.160A-->T). He did not have either HFE C282Y, H63D, or S65C, or deleterious coding region mutations of SLC40A1, TFR2, or HAMP. His erythrocyte measures and hemoglobin electrophoresis were consistent with alpha-thalassemia trait. We conclude that homozygosity for HJV R54X accounts for his severe, early age-of-onset hemochromatosis; his phenotype was probably modified by serial phlebotomy therapy.