OBJECTIVES:Shwachman-Diamond syndrome is a rare disorder characterized by exocrine pancreatic insufficiency, skeletal abnormalities and bone marrow failure, with high risk of leukemic evolution. The aim of the study was the immunophenotypic characterization of bone marrow cells from Shwachman-Diamond patients to assess the maturation pathway of blood progenitor cells and to identify the presence of recurrent abnormalities.METHODS:Bone marrow samples from nineteen patients and eleven controls were analyzed by multiparameter flow-cytometry.RESULTS:We found a low frequency of CD34+ cells (p=0.0179) and myeloid progenitors (p=0.025), in the bone marrow of Shwachman-Diamond patients as compared to the controls. A significant reduction in the percentage of granulocytes (p=0.002) and an increase of monocytes (p<0.001) were also evident in the bone marrow of patients.CONCLUSIONS:On the basis of these observations, future prospective assessments may be useful to verify the contribution of bone marrow immunophenotype in the early identification of the evolution towards aplasia or myelodysplasia.
Immunophenotypic Analysis of Hematopoiesis in Patients suffering from Shwachman-Bodian-Diamond Syndrome
KRAMPERA, Mauro;
2015-01-01
Abstract
OBJECTIVES:Shwachman-Diamond syndrome is a rare disorder characterized by exocrine pancreatic insufficiency, skeletal abnormalities and bone marrow failure, with high risk of leukemic evolution. The aim of the study was the immunophenotypic characterization of bone marrow cells from Shwachman-Diamond patients to assess the maturation pathway of blood progenitor cells and to identify the presence of recurrent abnormalities.METHODS:Bone marrow samples from nineteen patients and eleven controls were analyzed by multiparameter flow-cytometry.RESULTS:We found a low frequency of CD34+ cells (p=0.0179) and myeloid progenitors (p=0.025), in the bone marrow of Shwachman-Diamond patients as compared to the controls. A significant reduction in the percentage of granulocytes (p=0.002) and an increase of monocytes (p<0.001) were also evident in the bone marrow of patients.CONCLUSIONS:On the basis of these observations, future prospective assessments may be useful to verify the contribution of bone marrow immunophenotype in the early identification of the evolution towards aplasia or myelodysplasia.
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