Translocation t(5;12)(q31-q33;p12-p13): a non-random translocation associated with a myeloid disorder with eosinophilia

SUMMARY. To investigate the clinical significance of determination of plasma tissue factor (TF) antigen, we have developed a highly sensitive enzyme-linked immunosorbent assay (ELISA) for plasma TF, using two different monoclonal antibodies against TF apoprotein, 6B4 (catching antibody) and 5G9 (detecting antibody), and tetramethyl benzidine/H₂O₂ as substrates. Titration curves of recombinant human TF in buffer containing Triton X-100 were linear within the range from 50 to 2000pg/ml. The total assay time was 3h. Ultracentrifugation and immunoblot analysis indicated that human plasma and urine contained 50 000 g sedimentable and non-sedimentable forms of TF, both of which were detected by our ELISA method.
Plasma and urine concentrations of TF in healthy subjects and patients with various diseases were measured by the ELISA method. In healthy subjects, plasma and urinary TF levels were found to be 149± 72pg/ml (n = 30) and 175±60pg TF/urine creatinine mg (n = 95). respectively. TF was increased in plasma of patients with disseminated intravascular coagulation (DIC), thrombotic thrombocytopenic purpura, vasculitis associated with collagen diseases, diabetic microangiopathy and chronic renal failure receiving haemodialysis, but not in the plasma of endotoxaemic patients without DIC. The plasma TF/serum creatinine ratio did not show a positive correlation. Measurement of TF antigen in plasma may be useful for evaluating the endothelial damage and cell destruction in TF-containing tissues.     

Acute superior mesenteric vein thrombosis. A retrospective study of 9 patients

AIM OF THE STUDY: To determine diagnostic modalities and both immediate and long-term treatment of superior mesenteric venous thrombosis. PATIENTS AND METHODS: Retrospective study from 1997 to 2004 in two institutions concerning patients with superior mesenteric vein thrombosis. RESULTS: Nine patients (all males, mean age=55 years), were included. Abdominal pain (100%), vomiting (44%), and bowel activity disorders (44%) were the most common symptoms. A personal or familial thrombosis history was present in 67% of patients. A genetic predisposing factor of thrombosis was present in 78% of patients. The diagnosis was established with CT-scan in 8 cases with a mean delay of 8 days. Treatment was exclusively medical in 33% of patients and included surgery in 67%. All operated patients underwent resection for bowel infarction and only one had immediate anastomosis. All enterostomies were subsequently closed. No patient died. CONCLUSION: Diagnosis of superior mesenteric vein thrombosis is frequently delayed and relies on CT-scan with intravenous contrast. Prognosis is globally favourable but depends on early application of anticoagulation therapy. In case of surgery, bowel-sparing resection is indicated and enterostomies are often needed. Genetic disorders predisposing to thrombosis are very frequent, that may indicate prolonged even definitive anticoagulation therapy.     

Loss of the NPM1 gene in myeloid disorders with chromosome 5 rearrangements.

The assignment with chromosome banding techniques of the breakpoints of the recurrent translocation t(3;5) which leads to NPM1/MLF1 gene fusion in myeloid malignancies has not been unequivocal. In order to assess whether this is due to uncertainty in interpretation of the observed banding pattern or whether it reflects true genomic heterogeneity, we decided to analyze the breakpoint positions using fluorescence in situ (FISH) techniques in eight patients with myeloid malignancies and rearrangements of chromosomes 3 and 5. In three patients, colocalization of the NPM1 and MLF1 spanning BACs was demonstrated and NPM1/MLF1 fusion shown by PCR in one while in the remaining cases breakpoints were located outside the NPM1 and MLF1 loci. Interestingly, loss of a copy of the NPM1 gene was found in three of these latter patients. This findings suggest that haploinsufficiency of NPM1 may play a role in subtypes of myelodysplasias and leukemias.     

Cerebral monitoring with somatosensory evoked potentials in carotid surgery. A review of 141 carotids

OBJECTIVE: To evaluate postoperative and mid-term results of carotid surgery (CS) with somatosensory evoked potentials (SEP) monitoring. METHODS: Between 1998 and 2006, 141 CS in 124 patients were performed under general anesthesia. Selective shunting was based on SEP abnormality. Shunting criteria were: reduction up to 50% of the amplitude or latency increasing up to 10%. Early results and follow-up data are analyzed retrospectively. RESULTS: Shunting rate was 6%, 3 strokes (two transient strokes) occurred and one patient died of perioperative myocardial ischemia. The cumulative stroke and death rate at 30 days was 1.4%. CONCLUSIONS: Intra-operative SEP monitoring with selective shunting may be safely performed in carotid surgery.     

Echoendoscopic ultrasound/fine needle aspiration of an hepatic cystadenoma

The diagnosis of hepatic cystadenoma is difficult with the conventional radiologic imaging. When these hepatobiliary cystic tumors are located in the left liver, Echoendoscopic ultrasound/Fine needle aspiration can help in the diagnosis by showing high levels of cystic CEA and CA 19-9 in a mucinous fluid. Definitive histological evaluation is assessed by the examination of the operative specimen.