Shwachman-Diamond syndrome: an inherited model of aplastic anaemia with accelerated angiogenesis. | Read by QxMD (original) (raw)
Journal Article
Research Support, Non-U.S. Gov't
Elaine W Leung, Piya Rujkijyanont, Joseph Beyene, Kuiru Wei, Mohamed Abdelhaleem, Melvin H Freedman, Yigal Dror
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.
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