Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032463 (polycythemia vera)
3,374 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Diagnosing chronic myeloproliferative disorders (CMPD) can be difficult because of overlap and possible transitions between the different conditions and their similarity to reactive myeloproliferations. DNA analysis was applied to improve differentiation of CMPDs. All subtypes of CMPD analyzed, including chronic myeloid leukemia, agnogenic myeloid metaplasia, polycythemia vera, and essential thrombocythemia, had in common that granulocytes and bone marrow cells were clonal in origin, as shown by X chromosome-linked DNA polymorphism in conjunction with methylation patterns (n = 32). Reactive myeloproliferations, by contrast, showed polyclonal inactivation patterns. Clonality could not distinguish CMPD from cases of myelodysplastic syndrome because the latter (n = 7) also exhibited clonal hematopoiesis. Because of their clonal origin, peripheral granulocytes were used in all cases (n = 201) to detect bcr gene rearrangement. Despite possible morphologic overlap between different types of CMPD, bcr gene rearrangement was specific for chronic myeloid leukemia and could be applied to differentiate chronic myeloid leukemia from other CMPDs in cases of equivocal morphologic diagnosis. Chronic myeloproliferative disorders represent clonal hemopoietic diseases that probably have specific underlying genetic defects. Thus DNA analysis can aid substantially in the differential diagnosis of CMPD.
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PMID:DNA analysis to aid in the diagnosis of chronic myeloproliferative disorders. 161 25

An autopsy case of polycythemia vera with der(15) and der(20) associated with remarkable neutrophilia was reported. A 87-year-old man was diagnosed as polycythemia vera in August 1987. The red blood cell count was 621 x 10(4)/microliters, Ht 58.5% and the white blood cell count 45,400/microliters with 92% neutrophils. The splenomegaly, increased red blood cell volume and the low erythropoietin level were present. The arterial SaO2 value was above 92%. The chromosome analysis of bone marrow cells revealed 46, XY, -15, -20, +der(15)t(15;?)(q13-15;?), +der(20)t(20;?)(q11;?). The breakpoint in No. 20 was in q11. The remarkable leukocytosis with relative and absolute neutrophilia were observed. Particularly late in the clinical course the white blood cell count was 92,900/microliters with 99% neutrophils. The Ph1 chromosome was negative and the bcr rearrangement was not detected. He died of bronchopneumonia in January 1989. At the autopsy findings neither the marrow fibrosis nor the extramedullary leukemic cell infiltration was noticed.
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PMID:[Polycythemia vera with der(15) and der(20) associated with remarkable neutrophilia]. 177 54

A case of well-documented and -illustrated megakaryoblastic transformation is described in a patient with thrombocythemia passing through a stage of myelofibrosis without features of chronic granulocytic leukemia. Immunocytologic studies with the use of conventional and monoclonal antibodies against platelet membrane glycoproteins and electron microscopic investigations, demonstrating bull's-eye granules and platelet peroxidase positivity, proved the megakaryocytic differentiation of the blast cells. From the onset of the disease as well as during the megakaryoblastic transformation, the Philadelphia (Ph1) karyotype, 46XX t(9:22) (q34:q11), was found in peripheral blood and bone marrow cells as the only clonal abnormality. Southern blot analysis of DNA extracted from the blast cells revealed a rearrangement within the bcr on chromosome 22 similar to findings in chronic granulocytic leukemia. The presentation with excessive small and abnormal megakaryocytes in the initial and subsequent bone marrow and the rapid progressive myelofibrosis and splenomegaly differentiate the Ph1 chromosome-positive thrombocythemia from the chronic myeloproliferation of thrombocythemia in its primary form or associated with polycythemia vera.
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PMID:Philadelphia chromosome-positive thrombocythemia and megakaryoblast leukemia. 347 3

The reliability of histopathological diagnosis in bone marrow specimens from patients with chronic myeloproliferative disorders (CMPD) was evaluated by correlating the histological findings with molecular genetic and cytogenetic analyses of the Ph1-translocation. A rearrangement of m-bcr was detected only in patients (28/30) diagnosed histologically as chronic myeloid leukemia (CML). This finding was supported by the presence of a Ph1-chromosome in 24/26 patients with CML examined. All the patients with other types of CMPD, including polycythemia vera (PV), primary thrombocythemia (PTH) and chronic megakaryocytic-granulocytic myelosis (CMGM), as well as those with unclassifiable CMPD (CMPD.UC) were Ph1-negative (n = 38). The histopathological discrimination of CML from Ph1-negative varieties of CMPD was also reliable for patients with myelofibrosis complicating CML, CMGM and CMPD.UC. The results demonstrate that bone marrow histopathology allows a reliable diagnosis of CML. This is in contrast with hematological data such as high platelet counts which show considerable overlapping in the various forms of CMPD.
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PMID:Evidence from molecular genetic and cytogenetic analyses that bone marrow histopathology is reliable in the diagnosis of chronic myeloproliferative disorders. 809 57

Bcr-abl mRNA expression was studied in patients with chronic myeloproliferative disorders (CMPD) by the reverse transcriptase-polymerase chain reaction (RT-PCR) method. A bcr-abl transcript was not found in any patient with polycythemia vera, essential thrombocythemia or primary myelofibrosis, suggesting that the bcr-abl rearranged clone is not present in CMPD other than chronic myelogenous leukemia (CML). In CML clinical and laboratory data were compared from three bcr-abl types: the bcr exon 2-abl exon 2 (B2-A2) type, bcr exon 3-abl exon 2 (B3-A2) type and the co-expression type. Age at diagnosis tended to be younger (p = 0.08) in the co-expression type, and the platelet count tended to be lower (p = 0.11) in the B2-A2 type. However, there was no difference in other data, including the duration of the chronic phase and the phenotype of blasts at blast crisis.
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PMID:Bcr-abl mRNA expression in patients with chronic myeloproliferative disorders--absence of bcr-abl fused clone except chronic myelocytic leukemia. 825

We are reporting an unusual case of a 54-year-old woman with polycythemia vera (PV) who developed Ph chromosome positive chronic myelogenous leukemia (CML) 8 years after the initial diagnosis of PV, and terminating in acute lymphoblastic leukemia (ALL), 11 years after the initial diagnosis. Cytogenetic studies revealed a normal female karyotype at the time of diagnosis of PV and the presence of a Ph chromosome at the time of appearance of CML. Southern blot hybridization revealed a bcr rearrangement in both mononuclear cells and granulocytes. The diagnosis of ALL was established on the basis of morphology, positive TdT staining, and monoclonal antibody studies positive for 12, B4, and J5. This case demonstrates the transition of PV into CML, followed by a blastic transformation into acute lymphocytic leukemia. At termination of her disease there were findings compatible with bi-phenotypic leukemia. These findings would suggest that the disease arose in a primitive multipotential stem cell.
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PMID:Chronic myelogenous leukemia and acute lymphoblastic leukemia occurring in the course of polycythemia vera. 834 39

Diagnosis of chronic myeloproliferative disorders (CMPD) can encounter difficulties due to overlaps and possible transitions between the different entities and their similarity to reactive myeloproliferations. In this study DNA analysis has been applied to improve differentiation of CMPD. All subtypes of CMPD analyzed, including chronic myeloid leukemia (CML), agnogenic myeloid metaplasia (AMM), polycythemia vera (PV), and essential thrombocythemia (ET), had in common that granulocytes and bone marrow cells were clonal in origin as shown by X-chromosome-linked DNA polymorphism in conjunction with methylation patterns. Reactive myeloproliferations, by contrast, revealed a polyclonal inactivation pattern. Clonality could not distinguish CMPD from cases of myelodysplastic syndrome (MDS) since the latter also exhibited clonal hematopoiesis. AMM belongs to the group of myeloproliferative syndromes. Up to now the cellular phase at onset of the disease (megakaryocytic myelosis) has not been analyzed for clonality of the hematopoietic cells. Granulocytes as well as bone marrow cells from the cellular phase and advanced stages of the disease revealed a monoclonal inactivation pattern of X-chromosomal genes. These results show that the cellular phase already represents a monoclonal, and hence probably a neoplastic, proliferation of a pluripotent stem cell. The monoclonality of granulocytes could also be demonstrated in patients with splenomegaly and strongly argues against a compensatory proliferation of regular hematopoiesis in this organ. Because of their clonal origin, peripheral granulocytes were used in all cases (n = 244) for the detection of bcr-gene rearrangement. Despite possible morphological overlaps between different types of CMPD, bcr-gene rearrangement proved to be specific for CML and could be applied to differentiate CML from other CMPD in cases of uncertain morphological diagnosis. It is concluded that CMPD represent clonal hemopoietic disorders that probably have specific underlying genetic defects. Thus, DNA analysis can substantially aid in the differential diagnosis of CMPD.
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PMID:[Histopathology and molecular pathology of chronic myeloproliferative disorders]. 837 86

The bcr gene rearrangement resulting from the Philadelphia translocation is diagnostic of chronic myelogenous leukemia (CML) and is considered the hallmark of this myeloproliferative disorder (MPD) at the molecular level. The other MPDs, essential thrombocythemia (ET), polycythemia vera (PV), agnogenic myeloid metaplasia (AMM), and unclassified MPD, share morphologic features with CML, making the diagnosis difficult in cases with considerable morphologic overlap. In such cases, molecular analysis becomes essential for accurate diagnosis. We report results of bcr analysis by Southern hybridization in 37 patients with MPDs other than CML: ET (20 cases), PV (seven cases). unclassified MPD (nine cases), as well as in one case of chronic myelomonocytic leukemia (CMML). bcr negativity ruled out CML in 36 cases, confirming the morphologic diagnosis. In one case diagnosed as ET. bcr gene rearrangement was diagnostic of CML. The correct diagnosis made possible a different therapeutic approach in this young patient and resulted in cure after allogeneic bone marrow transplantation. The existence of such cases makes the use of molecular analysis essential in the evaluation of MPDs, even when the morphologic features do not unequivocally support the diagnosis of CML, as in this patient.
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PMID:bcr gene rearrangement analysis in myeloproliferative disorders other than chronic myelogenous leukemia. 881 85

Philadelphia (Ph) chromosome-positive leukemias, with the bcr-abl gene translocation, have a dismal prognosis. The identification of Ph-positive patients is vitally important because only aggressive therapeutic approaches, such as allogeneic bone marrow transplantation, may result in long-term disease-free survival. Routine diagnostic methods, such as Southern blot analysis and cytogenetics, may lead to false-negative results. Reverse transcriptase-polymerase chain reaction (RT-PCR) analysis is considered the most sensitive tool for the detection of the bcr-abl translocation, and it is widely used alone or in combination with karyotyping or Southern blot analysis to identify Ph-positive cases. In this study, we used fluorescence in situ hybridization (FISH) with BCR and ABL double-color probes for detecting Ph-positive leukemias. The FISH results were compared with the results of cytogenetic and RT-PCR analyses in 75 patients with leukemia or other myeloproliferative syndromes (chronic myeloid leukemia, 30; acute lymphoblastic leukemia, 24; acute myelogenous leukemia, 6; essential (hemorrhagic) thrombocythemia, 12; chronic myelomonocytic leukemia, 2; and polycythemia vera, 1). FISH analysis proved to be simple, extremely reliable and sensitive; bcr-abl fusion detection was successful in the presence of all types of molecular junctions i.e., (b2a2, b3a2, and e1a2). Furthermore, a Ph-positive case that proved fusion negative by RT-PCR was identified as positive by FISH. The sensitivity of RT-PCR and FISH related to Ph-positive cases were 97% and 100%, respectively. Regarding specificity, in 4 (5%) of 75 patients, RT-PCR provided false-positive results. Cross-contamination was identified because a new specimen was harvested and reanalyzed when FISH, cytogenetics, and RT-PCR results were contradictory. We believe FISH is an optimal diagnostic method to detect bcr-abl translocation that can be used alone or to validate the results of RT-PCR analysis.
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PMID:A comparative analysis of FISH, RT-PCR, and cytogenetics for the diagnosis of bcr-abl-positive leukemias. 942 14

The chronic myeloid disorders are collectively characterized by a stem cell origin of the clonal process and a variable tendency to undergo indigenous disease transformation and leukemic conversion. Classification of the chronic myeloid processes is based primarily on the presence or absence of the Philadelphia chromosome (bcr-abl translocation) and secondarily on the morphologic picture of the bone marrow in conjunction with the clinical manifestation. Essential thrombocythemia (ET), polycythemia vera (PV), and agnogenic myeloid metaplasia (AMM) constitute the classical group of bcr-abl negative chronic myeloproliferative disorders. PV is characterized by a clonal increase in red blood cell mass, AMM by bone marrow fibrosis, and ET by thrombocytosis. Most of these features, however, are not diagnostically specific, and secondary causes of erythrocytosis, thrombocytosis, and bone marrow fibrosis must be excluded. Treatment may be deferred or limited to phlebotomy alone in some patients with ET or PV, respectively. In contrast, thrombosisprone patients with PV or ET require drug therapy, and new platelet-lowering agents are increasingly being used. In this article, current diagnostic and therapeutic issues of ET, PV, and AMM are discussed.
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PMID:The Philadelphia chromosome negative chronic myeloproliferative disorders: a practical overview. 1040 9


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