| Literature DB >> 19016724 |
Barbara Crescenzi1, Roberta La Starza, Constantina Sambani, Agapi Parcharidou, Valentina Pierini, Valeria Nofrini, Lucia Brandimarte, Caterina Matteucci, Franco Aversa, Massimo Fabrizio Martelli, Cristina Mecucci.
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).Entities:
Mesh：
Year: 2008 PMID： 19016724 DOI： 10.1111/j.1365-2141.2008.07448.x
Source DB: PubMed Journal: Br J Haematol ISSN： 0007-1048 Impact factor: 6.998