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Totipotent stem cells bearing del(20q) maintain multipotential differentiation in Shwachman Diamond syndrome.

Authors
  • Crescenzi, Barbara
  • La Starza, Roberta
  • Sambani, Constantina
  • Parcharidou, Agapi
  • Pierini, Valentina
  • Nofrini, Valeria
  • Brandimarte, Lucia
  • Matteucci, Caterina
  • Aversa, Franco
  • Martelli, Massimo Fabrizio
  • Mecucci, Cristina
Type
Published Article
Journal
British Journal of Haematology
Publisher
Wiley (Blackwell Publishing)
Publication Date
Jan 01, 2009
Volume
144
Issue
1
Pages
116–119
Identifiers
DOI: 10.1111/j.1365-2141.2008.07448.x
PMID: 19016724
Source
Medline
License
Unknown

Abstract

SBDS/7q11 gene mutations underlie the congenital Shwachman Diamond syndrome (SDS), characterized by bone marrow failure and high risk of haematological malignancies. In two cases of SDS with bone marrow failure and isolated del(20q) interphase fluorescence in situ hybridization (I-FISH) found no abnormalities in FHIT/3p14.2, IKZF1/7p13, D7S486/7q31, PTEN/10q23.3, WT1/11p13, ATM/11q23, D13S25/13q14, TP53/17p13, NF1/17q11, SMAD2/18q21, RUNX1/21q22. Fluorescence immunophenotype combined with I-FISH found del(20q) in a totipotent haematopoietic stem cell (CD34(+), CD133(+)) and downstream myelocyte (CD33(+), CD14(+), CD13(+)), erythrocyte (Glycophorin A(+)) and lymphocyte lineages (CD19(+), CD20(+), CD3(+), CD7(+)). These findings and clinical follow-ups confirm the benign course of SDS with isolated del(20q).

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