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

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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

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Keywords

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

ASJC Scopus subject areas

  • Hematology
  • Medicine(all)

Cite this

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, 95(4), 308-315. https://doi.org/10.1111/ejh.12490