Current opinion and consensus statement regarding the diagnosis, prognosis, and treatment of patients with essential thrombocythemia: a survey of the Spanish Group of Ph-negative Myeloproliferative Neoplasms (GEMFIN) using the Delphi method.

The current consensus on the diagnosis, prognosis, and treatment of essential thrombocythemia (ET) is based on experts' recommendations. However, several aspects of the diagnosis of, prognosis of, and therapy for ET are still controversial. The Delphi method was employed with an expert panel of members of the Spanish Group of Ph-negative Myeloproliferative Neoplasms in order to identify the degree of agreement on the diagnosis, prognosis, and treatment of ET. Nine leading experts selected a total of 41 clinical hematologists with well-known expertise in ET. An electronic questionnaire was used to collect the questions rated in a four-step scale. The questions were grouped into four blocks: diagnosis, risk stratification, goals of therapy, and treatment strategy. After the first round consisting of 80 questions, a second round including 14 additional questions focused on the recommendations advocated by experts of the European LeukemiaNet in 2011 was analyzed. The median and mean values for the first and second rounds were calculated. A summary of the conclusions considered as the most representative of each block of questions is presented. The Delphi method is a powerful instrument to address the current approaches and controversies surrounding ET.

Relevance of early diagnosis in polycythemia vera and essential thrombocythemia: A single center's experience.

OBJECTIVES: This work aims to describe the proportion of patients with polycythemia vera (PV) or essential thrombocythemia (ET) and thrombosis prior to the diagnosis who had erythrocytosis or thrombocytosis prior to the thrombosis. PATIENTS AND METHODS: This is a retrospective review of 63 patients with PV and 130 with ET. RESULTS: In regard to PV, we found prior erythrocytosis in 7 (11.1%) of the 17 cases (27%) with thrombosis prior to diagnosis. In ET, we found prior thrombocytosis in 10 (7.7%) of the 25 cases (19.2%) with thrombosis prior to diagnosis. The median time between the laboratory finding and thrombosis was 8.2 months and 11.8 months for PV and TE, respectively. In both entities, patients with thrombosis prior to diagnosis had significantly lower survival. CONCLUSION: A significant proportion of patients with thrombosis prior to the diagnosis of PV and ET present with erythrocytosis or thrombocytosis prior to the episode of thrombosis. This could allow for anticipating diagnosis and treatment.

Kell hemolytic disease of the fetus. Combination treatment with plasmapheresis and intrauterine blood transfusion.

We report the case of a 36-year old pregnant woman with a Kell alloimmunization (anti-K1), probably secondary to a previous blood transfusion, and a severe hemolytic disease of the fetus. Once the first fetal blood transfusion by cordocentesis was performed, we started treatment with repeated plasmapheresis to maintain anti-K1 titer below 1:32. With this scheme we did not need to perform a second intrauterine fetal blood transfusion and only mild anemia was found in the newborn. Taking into account that the rate of serious complications with plasmapheresis is lower than that related with intrauterine blood transfusion, this could be an alternative approach to repeated transfusions.

Progressive renal failure as the first manifestation of monoclonal light-chain deposition disease with rapid multiple organ involvement.

Light-chain deposition disease (LCDD) is an uncommon condition in which monoclonal light chains are deposited in different organs causing varying degrees of tissue damage. We report the case of a 56-year-old male with progressive renal failure as the first manifestation of LCDD without initial evidence of monoclonal immunoglobulin protein in either serum or urine. The patient later developed severe systemic disease with rapid multiple organ involvement. Finally, he died 2 months after diagnosis, despite steroid and cyclophosphamide therapy.

Successful response to rituximab in two cases of acquired haemophilia refractory to standard-therapy.

Acquired autoantibodies against coagulation factors (acquired haemophilia) frequently constitute a life-threatening bleeding situation requiring a prompt therapeutic intervention, including control of bleeding and secondarily an attempt of eradication of the inhibitor by prolonged immunosuppressive therapy. The combination of oral corticosteroids and cyplophosphamide seems to be effective to eradicate the autoantibody, but some patients may be resistant. Another therapeutic approach, recently described, observes treatment with the chimeric anti-CD20 monoclonal antibody rituximab. We report two consecutively treated patients whose acquired FVIII inhibitors did not respond to standard immunosuppressive regimens, and only when rituximab was added to therapy, complete response and prolonged remission were obtained.

Hemophagocytic lymphohistiocytosis in a pancreas-kidney transplant recipient: response to dexamethasone and cyclosporine.

We describe a severe case of hemophagocytic lymphohistiocytosis (HLH), secondary to a candida glabrata retroperitoneal abscess in a 41-year-old simultaneous pancreas-kidney transplantation (SPKT) recipient. Despite percutaneous abscess drainage and antifungal therapy, general status deteriorated with persistent fever, severe pancytopenia and liver dysfunction. Presence of hypertriglyceridemia, very high serum levels of ferritin and hemophagocytosis in a bone-marrow aspirate gave the diagnosis of HLH. Of note, change from tacrolimus to cyclosporine together with dexamethasone produced rapid response with status improvement. We concluded that HLH, a rare but often fatal condition characterized by excessive activation of lymphocytes and macrophages, is a diagnostic and therapeutic challenge in solid-organ transplanted patients and must be suspected in the presence of fever, blood cytopenia and liver dysfunction. Specific antiinfectious therapy together with cyclosporine and dexamethasone may be a therapeutic approach.

Importancia del diagnóstico precoz en policitemia vera y trombocitemia esencial. Experiencia de un centro / Relevance of early diagnosis in polycythemia vera and essential thrombocythemia: a single center's experience

Objetivos: Describir la proporción de pacientes con policitemia vera (PV) o trombocitemia esencial (TE) y trombosis previa al diagnóstico que presentaban eritrocitosis o trombocitosis antes de la trombosis. Pacientes y métodos: Revisión retrospectiva de 63 pacientes con PV y 130 con TE. Resultados: En PV, encontramos eritrocitosis previa en 7 (11,1%) de los 17 casos (27%) con trombosis previa al diagnóstico. En TE, encontramos trombocitosis previa en 10 (7,7%) de los 25 casos (19,2%) con trombosis previa al diagnóstico. La mediana de tiempo entre el hallazgo analítico y la trombosis fue de 8,2 meses y 11,8 meses para PV y TE, respectivamente. En ambas entidades, los pacientes con trombosis previa al diagnóstico tenían una supervivencia significativamente menor. Conclusión: Una proporción significativa de pacientes con trombosis previa al diagnóstico de PV y TE presenta eritrocitosis o trombocitosis previa al episodio de trombosis, lo que permitiría anticipar el diagnóstico y el tratamiento (AU)

Objectives: This work aims to describe the proportion of patients with polycythemia vera (PV) or essential thrombocythemia (ET) and thrombosis prior to the diagnosis who had erythrocytosis or thrombocytosis prior to thrombosis. Patients and methods: This is a retrospective review of 63 patients with PV and 130 with ET. Results: In regard to PV, we found prior erythrocytosis in 7 (11.1%) of the 17 cases (27%) with thrombosis prior to diagnosis. In ET, we found prior thrombocytosis in 10 (7.7%) of the 25 cases (19.2%) with thrombosis prior to diagnosis. The median time between the laboratory finding and thrombosis was 8.2 months and 11.8 months for PV and TE, respectively. In both entities, patients with thrombosis prior to diagnosis had significantly lower survival. Conclusion: A significant proportion of patients with thrombosis prior to the diagnosis of PV and ET present erythrocytosis or thrombocytosis prior to the episode of thrombosis. This could allow for anticipating diagnosis and treatment (AU)

Splenic marginal zone lymphoma--a clinicopathological study in a series of 16 patients.

Splenic marginal zone lymphoma (SMZL), characterized in the WHO classification of lymphoid tumors, is a rare disorder comprising less than 1% of lymphoid neoplasms; only a few series concerning this entity have been published. Although this type of lymphoma is well defined histologically, its histogenesis remains obscure. Moreover, specific biological markers are still lacking and immunophenotype profile is not specific. These and other reasons, such as the existence of cytogenetic subtypes, have led to some authors to suspect that SMZL constitutes a heterogeneous entity. We have analyzed a series of sixteen SMZL cases from four hospitals in our community, from a clinical, biological and pathological point of view. When compared with those reported in the literature, our findings show three main differences: our patients less frequently showed an intrasinusoidal bone marrow infiltration pattern; the presence of a serum monoclonal component was rarely seen; and CD5-positive SMZL cases appear to be more common than previously thought.

Refractory anemia with ringed sideroblasts associated with thrombocytosis: comparative analysis of marked with non-marked thrombocytosis, and relationship with JAK2 V617F mutational status.

The World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues (2001) defined a provisional entity named refractory anemia with ringed sideroblasts associated to marked thrombocytosis (RARS-MT). Diagnosis of RARS-MT requires more than 15% of ringed sideroblasts in bone marrow aspirate and the existence of a thrombocytosis in blood, with a platelet count above 600 x 10(9)/L. Nevertheless, controversy exists regarding this platelet count "cut-off" value and, when RARS-MT was defined, the JAK2 mutation and its importance in the study of myeloproliferative disorders was unknown. We present the results of a Spanish retrospective multicentric study, which includes 76 cases of RARS with associated thrombocytosis (platelet count above 400 x 10(9)/L) at diagnosis (RARS-T), 36 of them with a platelet count above 600 x 10(9)/L. Our aim was to analyze their clinical, analytical and morphological characteristics, and to establish correlations with the JAK2 mutational status.