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Mesenchymal stromal cells from Shwachman‐Diamond syndrome patients fail to recreate a bone marrow niche in vivo and exhibit impaired angiogenesis
Author(s) -
Bardelli Donatella,
Dander Erica,
Bugarin Cristina,
Cappuzzello Claudia,
Pievani Alice,
Fazio Grazia,
Pierani Paolo,
Corti Paola,
Farruggia Piero,
Dufour Carlo,
Cesaro Simone,
Cipolli Marco,
Biondi Andrea,
D'Amico Giovanna
Publication year - 2018
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.15388
Subject(s) - mesenchymal stem cell , bone marrow , angiogenesis , medicine , haematopoiesis , bone marrow failure , neovascularization , immunology , pathology , stromal cell , cancer research , stem cell , biology , microbiology and biotechnology
Summary Shwachman‐Diamond syndrome ( SDS ) is a rare multi‐organ recessive disease mainly characterised by pancreatic insufficiency, skeletal defects, short stature and bone marrow failure ( BMF ). As in many other BMF syndromes, SDS patients are predisposed to develop a number of haematopoietic malignancies, particularly myelodysplastic syndrome and acute myeloid leukaemia. However, the mechanism of cancer predisposition in SDS patients is only partially understood. In light of the emerging role of mesenchymal stromal cells ( MSC s) in the regulation of bone marrow homeostasis, we assessed the ability of MSC s derived from SDS patients ( SDS ‐ MSC s) to recreate a functional bone marrow niche, taking advantage of a murine heterotopic MSC transplant model. We show that the ability of semi‐cartilaginous pellets ( SCP s) derived from SDS ‐ MSC s to generate complete heterotopic ossicles in vivo is severely impaired in comparison with HD ‐ MSC ‐derived SCP s. Specifically, after in vitro angiogenic stimuli, SDS ‐ MSC s showed a defective ability to form correct networks, capillary tubes and vessels and displayed a marked decrease in VEGFA expression. Altogether, these findings unveil a novel mechanism of SDS ‐mediated haematopoietic dysfunction based on hampered ability of SDS ‐ MSC s to support angiogenesis. Overall, MSC s could represent a new appealing therapeutic target to treat dysfunctional haematopoiesis in paediatric SDS patients.

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