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)

Thirty-three patients were diagnosed as having polycythemia vera (PV) from 1973 to 1993 in our institution. Of these patients, three who had been treated with alkylating agents, progressed to acute non-lymphocytic leukemia (ANLL). Their physical findings and the laboratory data were similar to those patients who did not become leukemic. To investigate the association with leukemic evolution, we examined N-ras oncogene activation in those patients who progressed to acute leukemia. Point mutations in codons 12 and 13 were not always detected, suggesting that the N-ras gene did not influence occurrence of ANLL in our patients.
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PMID:Leukemic transformation in three patients with polycythemia vera. Analysis of the clinicopathological features and N-ras gene mutation. 898 66

Alterations of the N-ras oncogene and p53 tumor suppressor gene have been demonstrated to play an important role in pathogenesis of hematological malignancies. We simultaneously investigated genetic lesions of both genes in bone marrow cells from 64 Japanese patients with myeloproliferative disorders (MPD), including polycythemia vera (PV), essential thrombocythemia (ET), and idiopathic myelofibrosis (MF), by direct sequencing analysis. No mutations of the N-ras gene were detected in any cases. Two patients, one with chronic neutrophilic leukemia derived from PV and one with acute mylogenous leukemia derived from ET, exhibited three mutations of the p53 gene. Among them, two were missense mutations in exon 5 or 7 and one was a deletion in exon 5. All samples in chronic phase or from MF were devoid of mutations in both genes. These data suggested that disruptions of both genes are extremely rare in MPD in chronic phase and that loss of functions in the p53 gene could be involved in progression of MPD such as PV and ET.
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PMID:N-ras and p53 gene mutations in Japanese patients with myeloproliferative disorders. 1235 15