GATA1 is overexpressed in patients with essential thrombocythemia and polycythemia vera but not in patients with primary myelofibrosis or chronic myelogenous leukemia

2008 ◽  
Vol 49 (7) ◽  
pp. 1416-1419 ◽  
Author(s):  
Ciro R. Rinaldi ◽  
Vincenzo Martinelli ◽  
Paola Rinaldi ◽  
Rosanna Ciancia ◽  
Luigi del Vecchio ◽  
...  
Keyword(s):  
Polycythemia Vera ◽  
Chronic Myelogenous Leukemia ◽  
Essential Thrombocythemia ◽  
Primary Myelofibrosis ◽  
Myelogenous Leukemia

scholarly journals MPL W515 L/K mutations in myeloproliferative neoplasms

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Sohaila Eldeweny ◽  
Hosny Ibrahim ◽  
Ghada Elsayed ◽  
Mohamed Samra
Keyword(s):  
Bone Marrow ◽  
Polycythemia Vera ◽  
Ethnic Groups ◽  
Essential Thrombocythemia ◽  
Myeloproliferative Neoplasms ◽  
Primary Myelofibrosis ◽  
Myelogenous Leukemia ◽  
Egyptian Population ◽  
Ph Chromosome ◽  
Pathological Variant

Abstract Background Myeloproliferative neoplasms (MPNs) describe a group of diseases involving the bone marrow (BM). Classical MPNs are classified into chronic myelogenous leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). This classification is based on the presence of Philadelphia (Ph) chromosome (BCR/ABL1). CML is BCR/ABL1-positive while PV, ET, and PMF are negative. JAK2 p. Val617Phe pathological variant is the most associated mutation in BCR/ABL1-negative MPNs. The frequency of JAK2 p. Val617Phe is 90–95% in PV patients, 50–60% in ET, and 40–50% in patients with PMF. Studies on MPL gene led to the revelation of a gain of function pathological variants in JAK2 p. Val617Phe-negative myeloproliferative neoplasms (MPNs). MPL p. W515 L/K pathological variants are the most common across all mutations in MPL gene. The prevalence of these pathological variants over the Egyptian population is not clear enough. In the present study, we aimed to investigate the prevalence of MPL p. W515 L/K pathological variants in the Philadelphia (Ph)-negative MPNs over the Egyptian population. Results We have tested 60 patients with Ph-negative MPNs for MPL p. W515 L/K pathological variants. Median age was 51 (22–73) years. No MPL p. W515 L/K pathological variants were detected among our patients. JAK2 p. Val617Phe in PV and PMF patients showed significantly lower frequency than other studies. Splenomegaly was significantly higher in ET patients compared to other studies. Conclusion MPL p. W515 L/K pathological variants are rare across the Egyptian Ph-negative MPNs, and further studies on a large number are recommended. MPN patients in Egypt are younger compared to different ethnic groups.

scholarly journals Application of current prognostic models for primary myelofibrosis in the setting of post-polycythemia vera or post-essential thrombocythemia myelofibrosis

Leukemia ◽  
2017 ◽  
Vol 31 (12) ◽  
pp. 2851-2852 ◽  
Author(s):  
A Tefferi ◽  
L Saeed ◽  
C A Hanson ◽  
R P Ketterling ◽  
A Pardanani ◽  
...  
Keyword(s):  
Polycythemia Vera ◽  
Essential Thrombocythemia ◽  
Primary Myelofibrosis ◽  
Prognostic Models

scholarly journals Neutrophil alkaline phosphatase: comparison of enzymes from normal subjects and patients with polycythemia vera and chronic myelogenous leukemia

Blood ◽  
1975 ◽  
Vol 45 (3) ◽  
pp. 335-343
Author(s):  
D Rosenblum ◽  
SJ Petzold
Keyword(s):  
Alkaline Phosphatase ◽  
Polycythemia Vera ◽  
Phosphatase Activity ◽  
Chronic Myelogenous Leukemia ◽  
Alkaline Phosphatase Activity ◽  
Normal Subjects ◽  
Myelogenous Leukemia ◽  
Precipitin Line ◽  
Neutrophil Alkaline Phosphatase ◽  
Sepharose 4B

To determine whether decreased alkaline phosphatase activity in the granules from neutrophils of patients with chronic myelogenous leukemia (CML) was due to an absence of enzyme or the production of defective enzyme, we compared the immunologic properties of granule alkaline phosphatase derived from patients with CML with that of normal subjects and patients with polycythemia vera (PRV). Antisera prepared in rabbits against granule alkaline phosphatase purified from the neutrophils of a patient with PRV produced a single precipitin line of antigenic identity when reacted with extracts of normal, PRV, and CML neutrophil granules. A histochemical stain for alkaline phosphatase activity (alpha-naphthyl acid phosphate coupled with Fast Blue RR) specifically stained the precipitin line. A variety of quantitative precipitin techniques failed to produce satisfactory precipitation of alkaline phosphatase activity. Comparative analyses were therefore performed by affinity chromatography using goat antirabbit-gammaglobulin linked to Sepharose 4B to adsorb alkaline phosphatase complexed with rabbit gamma globulin. With this method, 100% of CML, normal, and PRV alkaline phosphatase could be adsorbed. Using limiting concentrations of antibody, a proportionally smaller fraction of enzyme activity was absorbed as the concentration of PRV alkaline phosphatase or normal alkaline phosphatase was increased. Extracts of CML granules containing comparable amounts of protein but 200-fold less alkaline phosphatase activity per milligram did not specifically reduce adsorption. Thus, in CML, we found no evidence that the granulocytes contained a large amount of antigenically normal but enzymatically defective alkaline phosphatase. Examination of electron micrographs revealed no significant differences in the number or distribution of granules in the granulocytes of normal subjects or patients with PRV or CML. This suggests that the low level of neutrophil alkaline phosphatase in CML granulocytes is the result of decreased enzyme content and not a consequence of synthesis of catalytically defective enzyme.

scholarly journals Neutrophil alkaline phosphatase: comparison of enzymes from normal subjects and patients with polycythemia vera and chronic myelogenous leukemia

Blood ◽  
1975 ◽  
Vol 45 (3) ◽  
pp. 335-343 ◽  
Author(s):  
D Rosenblum ◽  
SJ Petzold
Keyword(s):  
Alkaline Phosphatase ◽  
Polycythemia Vera ◽  
Phosphatase Activity ◽  
Chronic Myelogenous Leukemia ◽  
Alkaline Phosphatase Activity ◽  
Normal Subjects ◽  
Myelogenous Leukemia ◽  
Precipitin Line ◽  
Neutrophil Alkaline Phosphatase ◽  
Sepharose 4B

Abstract To determine whether decreased alkaline phosphatase activity in the granules from neutrophils of patients with chronic myelogenous leukemia (CML) was due to an absence of enzyme or the production of defective enzyme, we compared the immunologic properties of granule alkaline phosphatase derived from patients with CML with that of normal subjects and patients with polycythemia vera (PRV). Antisera prepared in rabbits against granule alkaline phosphatase purified from the neutrophils of a patient with PRV produced a single precipitin line of antigenic identity when reacted with extracts of normal, PRV, and CML neutrophil granules. A histochemical stain for alkaline phosphatase activity (alpha-naphthyl acid phosphate coupled with Fast Blue RR) specifically stained the precipitin line. A variety of quantitative precipitin techniques failed to produce satisfactory precipitation of alkaline phosphatase activity. Comparative analyses were therefore performed by affinity chromatography using goat antirabbit-gammaglobulin linked to Sepharose 4B to adsorb alkaline phosphatase complexed with rabbit gamma globulin. With this method, 100% of CML, normal, and PRV alkaline phosphatase could be adsorbed. Using limiting concentrations of antibody, a proportionally smaller fraction of enzyme activity was absorbed as the concentration of PRV alkaline phosphatase or normal alkaline phosphatase was increased. Extracts of CML granules containing comparable amounts of protein but 200-fold less alkaline phosphatase activity per milligram did not specifically reduce adsorption. Thus, in CML, we found no evidence that the granulocytes contained a large amount of antigenically normal but enzymatically defective alkaline phosphatase. Examination of electron micrographs revealed no significant differences in the number or distribution of granules in the granulocytes of normal subjects or patients with PRV or CML. This suggests that the low level of neutrophil alkaline phosphatase in CML granulocytes is the result of decreased enzyme content and not a consequence of synthesis of catalytically defective enzyme.

scholarly journals The Plasma Disappearance of Radioactive Vitamin B12 in Myeloproliferative Diseases and Other Blood Disorders

Blood ◽  
1961 ◽  
Vol 18 (6) ◽  
pp. 717-726 ◽  
Author(s):  
CHARLES A. HALL ◽  
Alexander E. Finkler ◽  
Edward S. Allen ◽  
Booker T. Moore
Keyword(s):  
Vitamin B12 ◽  
Polycythemia Vera ◽  
Chronic Myelogenous Leukemia ◽  
Intravenous Dose ◽  
Myelogenous Leukemia ◽  
Blood Disorders ◽  
Myeloid Metaplasia ◽  
Myeloproliferative Diseases ◽  
Close Relationship ◽  
Secondary Polycythemia

Abstract 1. The plasma disappearance of a small intravenous dose of radioactive vitamin B12 was determined in control subjects and in patients with various blood disorders. 2. A delayed, sometimes irregular, disappearance was observed in the majority of patients with acute and chronic myelogenous leukemia, myeloid metaplasia, and polycythemia vera. 3. Disappearance was normal in the lymphogenous leukemias, secondary polycythemia and relative polycythemia. 4. The abnormalities observed are believed to indicate an abnormality of vitamin B12 metabolism common to the diseases of the myeloproliferative group and are further evidence of the close relationship between these diseases.

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