Polycythemia vera: stem-cell and probable clonal origin of the disease
Abstract
Two women with polycythemia vera and heterozygosity (GdB/GdA) at the X-chromosome-linked locus for glucose-6-phosphate dehydrogenase were studied to determine the nature of the cellular origin of their polycythemia. In contrast to unaffected tissue, such as skin fibroblasts, which consisted of both B and A types, the glucose-6-phosphate dehydrogenase of the patients' erythrocytes, granulocytes and platelets was only of Type A. These results provide direct evidence for the stem-cell nature of polycythemia vera and strongly imply a clonal origin for this disease. The fact that no descendants of the presumed normal stem cells were found in circulation suggests that bone-marrow proliferation in this disorder is influenced by local (intramarrow) regulatory factors.
References
Glucose-6-phosphate dehydrogenase mosaicism: utilization as a cell marker in the study of leiomyomas
Citations
Impaired expression of the thrombopoietin receptor by platelets from patients with polycythemia vera
Cytokine profiles in polycythemia vera and essential thrombocythemia patients: clinical implications
Molecular markers for the diagnosis of Philadelphia chromosome negative myeloproliferative disorders
Cell lineages in hematopoietic neoplasia studied with glucose-6-phosphate dehydrogenase cell markers
Long-term cultures in polycythaemia vera as proof for dependence on erythropoietin (author's transl)
Long-term therapeutic efficacy and toxicity of recombinant interferon-alpha 2a in polycythaemia vera
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