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

被引：17

作者：

Crescenzi, Barbara ^{[1
]}

La Starza, Roberta ^{[1
]}

Sambani, Constantina ^{[2
]}

Parcharidou, Agapi ^{[3
]}

Pierini, Valentina ^{[1
]}

Nofrini, Valeria ^{[1
]}

Brandimarte, Lucia ^{[1
]}

Matteucci, Caterina ^{[1
]}

Aversa, Franco ^{[1
]}

Martelli, Massimo Fabrizio ^{[1
]}

Mecucci, Cristina ^{[1
]}

机构：

[1] Univ Perugia, Monteluce Policlin, Haematol & Bone Marrow Transplantat Unit, IBiT Fdn,Fdn IRCCS Biotecnol Trapianto, I-06123 Perugia, Italy

[2] NCSR Demokritos, Lab Cytogenet, Athens, Greece

[3] Aghia Sophia Childrens Hosp, Dept Haematol Oncol, Athens, Greece

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2009年 / 144卷 / 01期

关键词：

Shwachman Diamond syndrome; Fluorescence Immunophenotype and Interphase Cytogenetics as a Tool for Investigations of Neoplasms (FICTION); 20q deletion; MYELODYSPLASTIC SYNDROMES; ISOCHROMOSOME; 7Q;

D O I：

10.1111/j.1365-2141.2008.07448.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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).

引用

页码：116 / 119

页数：4

共 15 条

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