Shwachman–Diamond syndrome: an inherited model of aplastic anaemia with accelerated angiogenesis

EW Leung, P Rujkijyanont, J Beyene… - British journal of …, 2006 - Wiley Online Library
EW Leung, P Rujkijyanont, J Beyene, K Wei, M Abdelhaleem, MH Freedman, Y Dror
British journal of haematology, 2006Wiley Online Library
Bone marrow angiogenesis is increased in myelodysplastic syndromes (MDS) and acute
myeloid leukaemia (AML), but has not been studied in inherited or acquired marrow failure
syndromes. Shwachman–Diamond syndrome (SDS) carries a high risk of MDS/AML and is
characterised by marrow stromal dysfunction. Compared with controls, SDS patients without
MDS/AML had higher marrow microvessel density. Stromal VEGF gene expression, stromal
vascular endothelial growth factor (VEGF) secretion and VEGF levels in serum and marrow …
Summary
Bone marrow angiogenesis is increased in myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML), but has not been studied in inherited or acquired marrow failure syndromes. Shwachman–Diamond syndrome (SDS) carries a high risk of MDS/AML and is characterised by marrow stromal dysfunction. Compared with controls, SDS patients without MDS/AML had higher marrow microvessel density. Stromal VEGF gene expression, stromal vascular endothelial growth factor (VEGF) secretion and VEGF levels in serum and marrow mononuclear cells were normal. Future studies should investigate the mechanism for increased angiogenesis in SDS, and whether SDS marrow, with its increased angiogenesis, promotes progression of malignant clones.
Wiley Online Library