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Totipotent stem cells bearing del(20q) maintain multipotential differentiation in Shwachman Diamond syndrome
Author(s) -
Crescenzi Barbara,
La Starza Roberta,
Sambani Constantina,
Parcharidou Agapi,
Pierini Valentina,
Nofrini Valeria,
Brandimarte Lucia,
Matteucci Caterina,
Aversa Franco,
Martelli Massimo Fabrizio,
Mecucci Cristina
Publication year - 2009
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2008.07448.x
Subject(s) - biology , cd34 , immunophenotyping , fluorescence in situ hybridization , cd33 , stem cell , cd20 , pathology , haematopoiesis , immunology , genetics , lymphoma , medicine , flow cytometry , chromosome , gene
Summary 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).