Totipotent stem cells bearing del(20q) maintain multipotential differentiation in Shwachman Diamond syndrome.
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).
Crescenzi
Barbara
B
Haematology, IBiT Foundation, Fondazione IRCCS Biotecnologie nel Trapianto, University of Perugia, Italy.
La Starza
Roberta
R
Sambani
Constantina
C
Parcharidou
Agapi
A
Pierini
Valentina
V
Nofrini
Valeria
V
Brandimarte
Lucia
L
Matteucci
Caterina
C
Aversa
Franco
F
Martelli
Massimo Fabrizio
MF
Mecucci
Cristina
C
D000741:Anemia, Aplastic / Q000235:genetics / Q000473:pathology*; D002454:Cell Differentiation; D002675:Child, Preschool; D005500:Follow-Up Studies; D017353:Gene Deletion; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007399:Interphase; D008297:Male; D013577:Syndrome; D039901:Totipotent Stem Cells / Q000473:pathology*