We found an association between JAK2 V617F and thrombotic events in patients with PV and ET.

No abstract

Background: The main mechanism of action of rituximab is through antibody-dependent cellular cytotoxicity via Fc receptors for immunoglobulin G. Recently a polymorphism of Fc was reported, which consists in the substitution of phenylalanine for valine in position 158. Patients with homozygous 158 valine/valine (V/V) alleles of Fc showed a higher response rate to rituximab treatment in contrast to patients with phenylalanine/valine (F/V) or homozygous phenilalanine (F/F). It would have clinical value to know which patients could have a greater benefit from the treatment with rituximab. Aims: 1-to determine the Fc genotype in patients with Non-Hodgkin lymphoma (NHL) in our population. 2- to analyze the response rate to rituximab of these patients according to the Fc polymorphism. Methods: DNA was isolated from peripheral blood. Genotyping of FCyIIIa polymorphism was performed using a polymerase chain reaction and were confirmed by direct sequencing of the region of interest. To analyse the results the patients were divided into two groups: with valine expression: V/V or V/F, and without valine expression F/F. The response was evaluated after 3 months of treatment and at the end of it. Chi-square and Fisher’s exact tests were used for statistical analysis. Results: 34 patients with NHL: 19 follicular lymphoma, 12 diffuse large B-cell lymphoma, 3 mantle lymphoma. The FcyIIIa polymorphism expression was 11.8% V/V, 52.9% V/F and 35.3% F/F. The complete response (CR) after 3 months of treatment was 50% and 41.7% for V/V-V/F and F/F respectively (not statistically significant (ns)). After end of treatment CR was 86.7% in V/V-V/F and 72.7% in F/F(ns). In patients with follicular lymphoma the CR after end of treatment was 87.5% in V/V-V/F and 79% in F/F (ns). In patients with diffuse large B-cell lymphoma the CR was reached in all patients regardless of polymorphism. Conclusions: FcyIIIa gene polymorphism did not help in predicting response after treatment with rituximab in our group of patients with NHL. A large number of patients would be necessary to draw conclusions, especially in the group with follicular lymphoma.

chains was shown in 92%, median bone marrow plasma cells was 10.9% (5 patients had associated MM), 12% had unfavorable genetic. Mayo stage was distributed as follows: I (8%), II (20%), III (28%), IV (44%). 20 pts (80%) had cardiac involved and 12 (60%) had typical pattern of delayed gadolinium enhancement in magnetic resonance. Median left ventricle thickness was 16.7 mm. Results: The histological diagnosis was in 28% by renal biopsy, 20% minor salivary gland, 16% fat aspiration, 8% cardiac, and proceeds with mass spectroscopy in 2 patients. Fat aspiration was performed in 15 pts (60%), but only 4 (26%) were positive. 44% received one regimen of treatment [0-6 lines]. Bortezomib and lenalidomide were the most used drugs in first and second line (80% and 32% respectively). 20% underwent ASCT (only 2 directly). 16% received doxycycline.The hematologic and organic response for each line and PFS is shown in table 1. Median PFS was decreasing with Mayo stage (1-2 stage: 16 month, 3: 9.7 months, 4: 7 months. Median OS was 4 years [95% CI 1.5-6.4] with median follow up of 7.8 years, and median OS in patients achieving RC/ VGPR was 4.9 years [95% CI 1.7-8].Summary/Conclusion: 1) Our series PFS and OS are worse comparing with literature, in real world AL amyloidosis is still diagnosed late, in advance Mayo stage (72%), and cardiac involvement. 2) The fat aspiration is not the diagnosis tool in the most cases. 3) Early diagnosis is the key to managing the disease and improves de survival of these patients. 4) It could be recommendable to start therapy, if clinical-analytic suspicious is high, although without histological confirmation, but it has to be provided in further studies.