施瓦赫曼-戴蒙德综合征：一种伴有加速血管生成的再生障碍性贫血遗传模型。

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

作者信息

Leung Elaine W, Rujkijyanont Piya, Beyene Joseph, Wei Kuiru, Abdelhaleem Mohamed, Freedman Melvin H, Dror Yigal

机构信息

Marrow Failure and Myelodysplasia Program, Division of Hematology/Oncology, Department of Pediatrics, the Hospital for Sick Children and the University of Toronto, 555 University Avenue, Toronto, Ontario, Canada.

出版信息

Br J Haematol. 2006 Jun;133(5):558-61. doi: 10.1111/j.1365-2141.2006.06069.x.

DOI:10.1111/j.1365-2141.2006.06069.x

PMID:16681645

Abstract

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.

摘要

骨髓血管生成在骨髓增生异常综合征（MDS）和急性髓系白血病（AML）中增加，但尚未在遗传性或获得性骨髓衰竭综合征中进行研究。施瓦赫曼-戴蒙德综合征（SDS）发生MDS/AML的风险很高，其特征是骨髓基质功能障碍。与对照组相比，未发生MDS/AML的SDS患者骨髓微血管密度更高。基质VEGF基因表达、基质血管内皮生长因子（VEGF）分泌以及血清和骨髓单个核细胞中的VEGF水平均正常。未来的研究应探讨SDS中血管生成增加的机制，以及血管生成增加的SDS骨髓是否促进恶性克隆的进展。