Characterisation of hairy cell leukaemia by tiling resolution array-based comparative genome hybridisation: a series of 13 cases and review of the literature.

Détails

ID Serval
serval:BIB_A4C46B185EC7
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Characterisation of hairy cell leukaemia by tiling resolution array-based comparative genome hybridisation: a series of 13 cases and review of the literature.
Périodique
European Journal of Haematology
Auteur(s)
Nordgren A., Corcoran M., Sääf A., Bremer A., Kluin-Nelemans H.C., Schoumans J., Grandér D.
ISSN
1600-0609 (Electronic)
ISSN-L
0902-4441
Statut éditorial
Publié
Date de publication
2010
Volume
84
Numéro
1
Pages
17-25
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; ReviewPublication Status: ppublish
Résumé
Little is known about the cytogenetic features and molecular mechanisms behind hairy cell leukaemia (HCL), despite the advances in diagnosis and treatment. Therefore, we used high-resolution genome-wide array-based comparative genomic hybridisation (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) to characterise copy number alterations (CNAs) in DNA from 13 cases of HCL. We also summarise CNAs and cytogenetic features in 109 HCL cases comprising our 13 cases and 96 cases from the literature. Genomic array-CGH revealed imbalances in two out of 13 cases in addition to previously described copy number variants (CNVs) found in healthy individuals. In one case, a 700 kb deletion of 20q11.22 was detected encompassing ten characterised genes, among them the TP53INP2, DNCL2A and ITCH genes. In the second case, trisomy 5, and a deletion of 5p15.2 encompassing a non-characterised gene AY328033 was found. Altogether only 20/81 (25%) of all cases studied by CGH or gene dose array revealed CNAs. The most common recurrent deletions and breakpoints were 14q22-32 (33%), 6q25 (16%), 2p12 (10%), 22q11 (10%), 17p11-13 (10%), 7q32-36 (9%), 18q11-13 (7%), 1q32-44 (6%), 8p22-23 (6%) and 7q11 (6%). Trisomy 5 occurred in 15%. In addition, several other recurrent breakpoints were identified. Although a number of genomic imbalances were identified in the HCL samples, the genome appeared remarkably stable.
Mots-clé
Adult, Aged, Chromosome Banding, Chromosome Breakpoints, Chromosomes, Artificial, Bacterial/genetics, Chromosomes, Human/genetics, Chromosomes, Human/ultrastructure, Comparative Genomic Hybridization/methods, DNA, Neoplasm/genetics, Female, Gene Dosage, Gene Library, Humans, Karyotyping, Leukemia, Hairy Cell/genetics, Leukemia, Hairy Cell/pathology, Male, Middle Aged, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Spleen/pathology
Pubmed
Web of science
Création de la notice
17/09/2011 9:36
Dernière modification de la notice
03/03/2018 20:14
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