Shwachman-Diamond syndrome: Prime suspect found “not guilty”

Schwachman-Diamond syndrome (SDS) is a rare congenital disorder characterized by exocrine pancreatic dysfunction, hematological abnormalities and growth retardation. It is also the second cause of exocrine pancreatic insufficiency in children after cystic fibrosis. Development of bone marrow or blood malignancies in SDS patients may be the consequence of a defect occurring early in the hematopoietic system and affecting either the hematopoietic (HSCs) or the mesenchymal (MSCs) stem cell populations. In their publication in Blood Cancer Journal, Dr. André and colleagues from the Centro Ricerca Matilde Tettamanti showed that MSCs from SDS patients (SDS-MSCs) shared a lot of MSC-typical features with MSCs from healthy donors (HD-MSCs) such as morphology, proliferation, expression of surface markers and ability to self-differentiate and block mitogen-dependent lymphocytes proliferation. Viability of neutrophils co-cultured with SDS-MSCs was determined using Enzo’s Apoptosis/Necrosis detection kit and demonstrated a significant inhibition of neutrophil apoptosis. Looking further into their genetic background, SDS-MSCs were found to have normal karyotypes and did not exhibit copy number aberrations. These results suggest that MSCs are not directly responsible for hematological defects in SDS patients but careful monitoring of the genetic profile of this cell population over the course and evolution of the disease should be envisaged in order to gain new insights into its pathogenesis.

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