"Stem cell" origin of the hematopoietic defect in dyskeratosis congenita
JC Marsh, AJ Will, JM Hows, P Sartori, PJ Darbyshire, PJ Williamson, DG Oscier, TM Dexter and NG Testa
CRC Department of Experimental Hematology, Paterson Institute for Cancer
Research, Christie Hospital, Manchester, UK.
We have used the long-term bone marrow culture (LTBMC) system to analyze
hematopoiesis in three patients with dyskeratosis congenita (DC), two of
whom had aplastic anemia, and the third had a normal blood count (apart
from mild macrocytosis) and normal BM cellularity. Hematopoiesis was
severely defective in all three patients, as measured by a low incidence of
colony-forming cells and a low level of hematopoiesis in LTBMC. The
function of the marrow stroma was normal in its ability to support the
growth of hematopoietic progenitors from normal marrows seeded onto them in
all three cases, but the generation of hematopoietic progenitors from
patients marrow cells inoculated onto normal stromas was reduced, thus
suggesting the defect to be of stem cell origin. The parents and unaffected
brother of one of the families have also been studied in LTBMC and all
showed normal hematopoietic and stromal cell function. From this study we
speculate that there are some similarities between DC and the defect in the
W/Wv mouse.
Volume 79,
Issue 12,
pp. 3138-3144,
06/15/1992
Copyright © 1992 by The American Society of Hematology
