Polycythemia vera: stem-cell and probable clonal origin of the disease

N Engl J Med. 1976 Oct 21;295(17):913-6. doi: 10.1056/NEJM197610212951702.

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Blood Platelets / enzymology
  • Erythrocytes / enzymology*
  • Female
  • Glucosephosphate Dehydrogenase / blood
  • Granulocytes / enzymology
  • Hematopoietic Stem Cells / pathology*
  • Heterozygote
  • Humans
  • Phenotype
  • Polycythemia Vera / enzymology
  • Polycythemia Vera / genetics
  • Polycythemia Vera / pathology*

Substances

  • Glucosephosphate Dehydrogenase