Interphase fluorescence in situ hybridization and spectral karyotyping reveals hidden genetic aberrations in children with acute lymphoblastic leukaemia and a normal banded karyotype.

Détails

ID Serval
serval:BIB_95C14844F6A0
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Interphase fluorescence in situ hybridization and spectral karyotyping reveals hidden genetic aberrations in children with acute lymphoblastic leukaemia and a normal banded karyotype.
Périodique
British Journal of Haematology
Auteur(s)
Nordgren A., Schoumans J., Söderhäll S., Nordenskjöld M., Blennow E.
ISSN
0007-1048 (Print)
ISSN-L
0007-1048
Statut éditorial
Publié
Date de publication
2001
Volume
114
Numéro
4
Pages
786-793
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Résumé
Twenty-two cases of childhood acute lymphoblastic leukaemia (ALL) with normal G- or Q-banded karyotypes were studied by interphase fluorescence in situ hybridization (FISH) and spectral karyotyping. Probes detecting MLL, BCR/ABL and TEL/AML1 rearrangements were used for the interphase studies, along with centromere-specific probes from chromosomes 17 and X. In 10 patients (45%), previously undetected aberrations were demonstrable. Specific gene rearrangements and structural changes were found in six cases and numerical changes in five. Five of these aberrations have previously been reported to have an impact on prognosis. Three cases were massively hyperdiploid and, in one, the prognostically important BCR/ABL fusion was detected. In addition, a near-haploid karyotype with 27 chromosomes was found in one patient and TEL/AML1 rearrangements were detected in two cases. This study indicates that about half of childhood ALL cases with apparently normal karyotypes harbour genetic aberrations that may be detected using interphase FISH and spectral karyotyping.
Mots-clé
Adolescent, Child, Child, Preschool, Chromosome Aberrations, Chromosome Disorders, Chromosomes, Human, Pair 17, Core Binding Factor Alpha 2 Subunit, Female, Fusion Proteins, bcr-abl/genetics, Humans, In Situ Hybridization, Fluorescence/methods, Interphase, Karyotyping/methods, Leukemia-Lymphoma, Adult T-Cell/genetics, Male, Oncogene Proteins, Fusion/genetics, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/genetics, Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics, X Chromosome
Pubmed
Web of science
Création de la notice
17/09/2011 11:08
Dernière modification de la notice
20/08/2019 15:58
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