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

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) foun...

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Published in:British journal of haematology 2009-01, Vol.144 (1), p.116-119
Main 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
Format: Article
Language:English
Subjects:
20q deletion
Anemia, Aplastic - genetics
Anemia, Aplastic - pathology
Biological and medical sciences
Cell Differentiation
Child, Preschool
Fluorescence Immunophenotype and Interphase Cytogenetics as a Tool for Investigations of Neoplasms (FICTION)
Follow-Up Studies
Gastroenterology. Liver. Pancreas. Abdomen
Gene Deletion
Hematologic and hematopoietic diseases
Humans
Immunophenotyping
In Situ Hybridization, Fluorescence
Infant
Interphase
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
Medical sciences
Other diseases. Hematologic involvement in other diseases
Other diseases. Semiology
Shwachman Diamond syndrome
Syndrome
Totipotent Stem Cells - pathology
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Summary: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).
ISSN:0007-1048
1365-2141
DOI:10.1111/j.1365-2141.2008.07448.x