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Essential thrombocythemia in two sisters originating from different stem
cell levels
JW Janssen, BR Anger, HG Drexler, CR Bartram and H Heimpel
Department of Pediatrics II, University of Ulm, FRG.
We report the rare occurrence of essential thrombocythemia (ET) in two
sisters. In one patient, the clinical phenotype of the disease evolved from
ET to polycythemia vera (PV) after 4 years of follow-up. Clonal
hematopoiesis was established in both cases by X-chromosomal inactivation
analysis using a DNA polymorphism of the phosphoglycerate- kinase (PGK)
gene. Cell separation studies suggested a common ancestor for granulocytes,
monocytes, and T lymphocytes in one patient; however, in her sister,
monoclonality could only be demonstrated convincingly for the granulocyte
fraction. Our data indicate that ET may originate from heterogenous stem
cell levels.
Volume 75,
Issue 8,
pp. 1633-1636,
04/15/1990
Copyright © 1990 by The American Society of Hematology
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