[A retrospective analysis of 84 adult patients with Evans syndrome in a single center].

OBJECTIVE: To evaluate the initial clinical characteristics, the response to treatment, and the outcome in adult patients with Evans syndrome. METHODS: The clinical data of 84 adult patients (20 males, 64 females) with Evans syndrome diagnosed at our center between 1984 and 2007 were retrospectively analyzed. RESULTS: The patients were followed up for a median duration of 17.5 (0.03 - 140) months. All the patients initially received intravenous steroids with or without intravenous immunoglobulin (IVIG). Forty-seven patients were treated with corticosteroids alone initially. Complete remission (CR) and partial remission (PR) were achieved in 38 of the patients, but 92.1% of them relapsed during a median follow-up of 12 months. Twenty-eight patients who were resistant to corticosteroids therapy or with severe bleeding were subsequently administered immunosupressive agents. CR and PR were obtained in 89.3% of them. Within a median follow-up of 8 months, 84% of these patients relapsed. CONCLUSIONS: Evans syndrome is a chronic and easy to recurrent disease, which is often refractory to conventional therapy. Treatment with combination agents might be a useful therapeutic approach to the patients.

The role of T-cell immunoglobulin- and mucin-domain-containing molecule-3 polymorphisms in idiopathic thrombocytopenic purpura.

The family of T-cell immunoglobulin- and mucin-domain-containing molecules (TIMs) has an important role in immune regulation. TIM-3 is a transmembrane protein preferentially expressed on terminally differentiated Th1 cells and plays a role in T-helper (Th)-1-mediated autoimmune disease. Idiopathic thrombocytopenic purpura (ITP) is an acquired organ-specific autoimmune disease with a polarization of Th1. The purpose of this study was to investigate whether the -1516G>T, -574T>G, 4259G>T single-nucleotide polymorphisms within the TIM-3 gene contribute to the genetic susceptibility to ITP. Genotyping of TIM-3 -1516G>T, -574T>G, and 4259G>T was performed in 187 patients with ITP and 123 healthy individuals by polymerase chain reaction-restriction fragment length polymorphism assay. No significant differences existed in genotype and allele distributions between the patients with ITP and the controls in all three sites. There was strong linkage disequilibrium (LD; r(2) = 0.633) between -574T>G and 4259G>T, whereas -1516G>T was not in LD with -574T>G (r(2) = 0.007) or with 4259G>T (r(2) = 0.002). The -1516G>T, -574T>G, and 4259G>T of TIM-3 gene polymorphisms might not play an important role as a genetic risk factor in the pathophysiology of ITP.

[Clinical analysis of 438 patients with essential thrombocythemia].

OBJECTIVE: To analyse the clinical feature and natural course of essential thrombocythemia (ET). METHODS: A retrospective analysis was conducted in ET patients treated in our hospital during May 1980 to December 2006. RESULTS: Four hundred and thirty eight patients (201 males and 237 females with a median age of 48 years) were diagnosed. Hemorrhage occurred in 101 cases (23.1%), thrombosis in 86 cases (19.6%), and both hemorrhage and thrombosis in 13 cases (3.0%). Splenomegaly occurred in 150 cases and hepatomegaly occurred in 60 cases. One hundred and forty-nine cases (34%) had no symptoms at diagnosis and 145 cases (33.1%) confirmed by routine blood tests due to other diseases. The median platelet count at diagnosis was 1000 x 10(9)/L [(533 -3740) x 10(9)/L]. Bone marrow biopsy was performed in 255 cases which showed mainly increase of enlarged mature megakaryocytes with hyper-lobulated nuclei and local proliferation of reticular fiber was revealed in 51 cases. JAK2V617F mutation was detected in 90(78.9%) of 114 patients studied. Karyotype analysis was performed in 180 cases and 6 (3.3%) had clonal chromosomal aberrations. Two hundred and sixty-one patients were followed up over 12 months with a median of 60 months (range from 12 to 300 months). Seventeen cases (6.5%) evolved into marrow fibrosis (MF) and one case into polycythemia vera (PV). One case evolved into PV 6 years and then MF 20 years after diagnosis of ET. Three cases developed acute monocyte leukemia (M5), myelodysplastic syndrome (MDS) and multiple myeloma (MM), respectively. CONCLUSIONS: ET is a chronic myeloproliferative disorder characterized predominantly by thrombocytosis and hemorrhage. The percentage of asymptomatic cases is high. The prognoses for most cases were good with a few cases may evolve into MF.