Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome

Angela Mercuri, Elisa Cannata, Omar Perbellini, Chiara Cugno, Rita Balter, Ada Zaccaron, Gloria Tridello, Giovanni Pizzolo, Massimiliano De Bortoli, Mauro Krampera, Marco Cipolli, Simone Cesaro

Research output: Contribution to journalArticle

4 Citations (Scopus)

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 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.

Original languageEnglish
Pages (from-to)308-315
Number of pages8
JournalEuropean Journal of Haematology
Volume95
Issue number4
DOIs
Publication statusPublished - 1 Oct 2015
Externally publishedYes

Fingerprint

Hematopoiesis
Bone Marrow
Exocrine Pancreatic Insufficiency
Granulocytes
Bone Marrow Cells
Monocytes
Blood Cells
Flow Cytometry
Stem Cells
Shwachman syndrome

Keywords

  • Flow cytometry
  • Immunophenotyping
  • Leukemia
  • Shwachman-Bodian-Diamond Syndrome (SBDS)
  • Stem cells

ASJC Scopus subject areas

  • Hematology
  • Medicine(all)

Cite this

Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome. / Mercuri, Angela; Cannata, Elisa; Perbellini, Omar; Cugno, Chiara; Balter, Rita; Zaccaron, Ada; Tridello, Gloria; Pizzolo, Giovanni; De Bortoli, Massimiliano; Krampera, Mauro; Cipolli, Marco; Cesaro, Simone.

In: European Journal of Haematology, Vol. 95, No. 4, 01.10.2015, p. 308-315.

Research output: Contribution to journalArticle

Mercuri, A, Cannata, E, Perbellini, O, Cugno, C, Balter, R, Zaccaron, A, Tridello, G, Pizzolo, G, De Bortoli, M, Krampera, M, Cipolli, M & Cesaro, S 2015, 'Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome', European Journal of Haematology, vol. 95, no. 4, pp. 308-315. https://doi.org/10.1111/ejh.12490
Mercuri, Angela ; Cannata, Elisa ; Perbellini, Omar ; Cugno, Chiara ; Balter, Rita ; Zaccaron, Ada ; Tridello, Gloria ; Pizzolo, Giovanni ; De Bortoli, Massimiliano ; Krampera, Mauro ; Cipolli, Marco ; Cesaro, Simone. / Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome. In: European Journal of Haematology. 2015 ; Vol. 95, No. 4. pp. 308-315.
@article{38365dce6b1549afa2a91b5f383296c1,
title = "Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome",
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 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.",
keywords = "Flow cytometry, Immunophenotyping, Leukemia, Shwachman-Bodian-Diamond Syndrome (SBDS), Stem cells",
author = "Angela Mercuri and Elisa Cannata and Omar Perbellini and Chiara Cugno and Rita Balter and Ada Zaccaron and Gloria Tridello and Giovanni Pizzolo and {De Bortoli}, Massimiliano and Mauro Krampera and Marco Cipolli and Simone Cesaro",
year = "2015",
month = "10",
day = "1",
doi = "10.1111/ejh.12490",
language = "English",
volume = "95",
pages = "308--315",
journal = "European Journal of Haematology",
issn = "0902-4441",
publisher = "Wiley-Blackwell",
number = "4",

}

TY - JOUR

T1 - Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome

AU - Mercuri, Angela

AU - Cannata, Elisa

AU - Perbellini, Omar

AU - Cugno, Chiara

AU - Balter, Rita

AU - Zaccaron, Ada

AU - Tridello, Gloria

AU - Pizzolo, Giovanni

AU - De Bortoli, Massimiliano

AU - Krampera, Mauro

AU - Cipolli, Marco

AU - Cesaro, Simone

PY - 2015/10/1

Y1 - 2015/10/1

N2 - 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 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.

AB - 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 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.

KW - Flow cytometry

KW - Immunophenotyping

KW - Leukemia

KW - Shwachman-Bodian-Diamond Syndrome (SBDS)

KW - Stem cells

UR - http://www.scopus.com/inward/record.url?scp=84941260087&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84941260087&partnerID=8YFLogxK

U2 - 10.1111/ejh.12490

DO - 10.1111/ejh.12490

M3 - Article

VL - 95

SP - 308

EP - 315

JO - European Journal of Haematology

JF - European Journal of Haematology

SN - 0902-4441

IS - 4

ER -