Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes

Summary The bone marrow failure syndromes (BMFS) are a heterogeneous group of rare blood disorders characterized by inadequate haematopoiesis, clonal evolution, and increased risk of leukaemia. Single nucleotide polymorphism arrays (SNP‐A) have been proposed as a tool for surveillance of clonal evol...

Full description

Saved in:
Bibliographic Details
Published in:British journal of haematology 2014-01, Vol.164 (1), p.73-82
Main Authors: Babushok, Daria V., Xie, Hongbo M., Roth, Jacquelyn J., Perdigones, Nieves, Olson, Timothy S., Cockroft, Joshua D., Gai, Xiaowu, Perin, Juan C., Li, Yimei, Paessler, Michele E., Hakonarson, Hakon, Podsakoff, Gregory M., Mason, Philip J., Biegel, Jaclyn A., Bessler, Monica
Format: Article
Language:English
Subjects:
Adolescent
Adult
Anemia, Aplastic
aplastic anaemia
Base Sequence
Biological and medical sciences
Bone Marrow - pathology
Bone Marrow Diseases
bone marrow failure
Child
Child, Preschool
chromosomal rearrangements
Chromosome Aberrations
clonal evolution
Cohort Studies
cytogenetic diagnosis
DNA Copy Number Variations
Female
Hematologic and hematopoietic diseases
Hemoglobinuria, Paroxysmal - genetics
Hemoglobinuria, Paroxysmal - pathology
Humans
Infant
Loss of Heterozygosity
Male
Medical sciences
Middle Aged
Molecular Sequence Data
Other diseases. Hematologic involvement in other diseases
Polymorphism, Single Nucleotide
Prospective Studies
Retrospective Studies
Tumors
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Summary The bone marrow failure syndromes (BMFS) are a heterogeneous group of rare blood disorders characterized by inadequate haematopoiesis, clonal evolution, and increased risk of leukaemia. Single nucleotide polymorphism arrays (SNP‐A) have been proposed as a tool for surveillance of clonal evolution in BMFS. To better understand the natural history of BMFS and to assess the clinical utility of SNP‐A in these disorders, we analysed 124 SNP‐A from a comprehensively characterized cohort of 91 patients at our BMFS centre. SNP‐A were correlated with medical histories, haematopathology, cytogenetic and molecular data. To assess clonal evolution, longitudinal analysis of SNP‐A was performed in 25 patients. We found that acquired copy number‐neutral loss of heterozygosity (CN‐LOH) was significantly more frequent in acquired aplastic anaemia (aAA) than in other BMFS (odds ratio 12·2, P 
ISSN:0007-1048
1365-2141
DOI:10.1111/bjh.12603