Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome.
OBJECTIVE
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 patients with Shwachman-Diamond syndrome 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 patients with Shwachman-Diamond syndrome 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 toward aplasia or myelodysplasia.
Pediatric Hematology, University of Verona, Verona, Italy.
Angela
A
Mercuri
Pediatric Hematology, University of Verona, Verona, Italy.
Elisa
E
Cannata
Section of Hematology, Department of Medicine, University of Verona, Verona, Italy.
Omar
O
Perbellini
Pediatric Hematology, University of Verona, Verona, Italy.
Chiara
C
Cugno
Pediatric Hematology, University of Verona, Verona, Italy.
Rita
R
Balter
Pediatric Hematology, University of Verona, Verona, Italy.
Ada
A
Zaccaron
Pediatric Hematology, University of Verona, Verona, Italy.
Gloria
G
Tridello
Section of Hematology, Department of Medicine, University of Verona, Verona, Italy.
Giovanni
G
Pizzolo
Pediatric Hematology, University of Verona, Verona, Italy.
Massimiliano
M
De Bortoli
Section of Hematology, Department of Medicine, University of Verona, Verona, Italy.
Mauro
M
Krampera
Cystic Fibrosis Center, University of Verona, Verona, Italy.
Marco
M
Cipolli
Pediatric Hematology, University of Verona, Verona, Italy.
Simone
S
Cesaro
D000293:Adolescent; D000328:Adult; D015703:Antigens, CD / Q000378:metabolism; D001853:Bone Marrow / Q000473:pathology; D001854:Bone Marrow Cells / Q000378:metabolism / Q000473:pathology; D001855:Bone Marrow Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D016022:Case-Control Studies; D002454:Cell Differentiation; D019070:Cell Lineage; D002648:Child; D002675:Child, Preschool; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005434:Flow Cytometry; D006410:Hematopoiesis / Q000235:genetics; D006412:Hematopoietic Stem Cells / Q000166:cytology / Q000378:metabolism; D006801:Humans; D016130:Immunophenotyping; D007223:Infant; D059785:Karyotype; D008068:Lipomatosis / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D008297:Male; D009154:Mutation; D000081003:Shwachman-Diamond Syndrome; D055815:Young Adult
D015703:Antigens, CD
Shwachman-Bodian-Diamond Syndrome (SBDS); flow cytometry; immunophenotyping; leukemia; stem cells