title: Totipotent stem cells bearing del(20q) maintain multipotential differentiation in Shwachman Diamond syndrome.
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).
authors.affiliation: Haematology, IBiT Foundation, Fondazione IRCCS Biotecnologie nel Trapianto, University of Perugia, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Crescenzi
authors.forename: Roberta
authors.initials: R
authors.lastname: La Starza
authors.forename: Constantina
authors.initials: C
authors.lastname: Sambani
authors.forename: Agapi
authors.initials: A
authors.lastname: Parcharidou
authors.forename: Valentina
authors.initials: V
authors.lastname: Pierini
authors.forename: Valeria
authors.initials: V
authors.lastname: Nofrini
authors.forename: Lucia
authors.initials: L
authors.lastname: Brandimarte
authors.forename: Caterina
authors.initials: C
authors.lastname: Matteucci
authors.forename: Franco
authors.initials: F
authors.lastname: Aversa
authors.forename: Massimo Fabrizio
authors.initials: MF
authors.lastname: Martelli
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
mesh_terms: 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*