Cytogenetics in the genomic era.

Chromosome Aberrations Cytogenetic Analysis Hematologic Neoplasms / diagnosis Humans Leukemia, Lymphocytic, Chronic, B-Cell / diagnosis Lymphoma, Non-Hodgkin / diagnosis Multiple Myeloma / diagnosis Myelodysplastic Syndromes / diagnosis
Chromosomal banding DNA microarrays Fluorescence in situ hybridization Haematologic neoplasms Leukaemia Lymphoma Next generation sequencing

Journal

Best practice & research. Clinical haematology
ISSN: 1532-1924
Titre abrégé: Best Pract Res Clin Haematol
Pays: Netherlands
ID NLM: 101120659

Informations de publication

Date de publication:
09 2020
Historique:
received: 24 02 2020
revised: 30 04 2020
accepted: 27 05 2020
entrez: 11 10 2020
pubmed: 12 10 2020
medline: 8 10 2021
Statut: ppublish

Résumé

Haematological neoplasms are characterised by the presence of recurrent chromosomal abnormalities, making cytogenetics essential for establishing the diagnosis and prognosis. Chromosome banding analysis is mandatory for chronic myeloid leukaemia, neoplasms with eosinophilia, myelodysplastic syndromes and acute leukaemias. In contrast, in other myeloid neoplasms, chronic lymphocytic leukaemia, non-Hodgkin lymphoma and multiple myeloma, the study must be complemented with fluorescence in situ hybridization and/or microarrays, which can overcome some of the shortcomings of banding analysis to identify potential cryptic alterations or reciprocal translocations. In the genomic era, novel technologies such as next generation sequencing are now being used in clinical routine analysis, since they offer the possibility of studying mutations and copy number alterations in a single study at a higher resolution and/or sensitivity. However, they require highly qualified staff and further standardisation, especially regarding data analysis, thereby limiting their current applicability.

Identifiants

DOI: 10.1016/j.beha.2020.101196 PMID: 33038985
pubmed: 33038985
pii: S1521-6926(20)30057-8
doi: 10.1016/j.beha.2020.101196
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

101196

Informations de copyright

Copyright © 2020 Elsevier Ltd. All rights reserved.

Auteurs

Isabel Granada (I)

Hematology Laboratory Service, ICO-Hospital GermansTrias i Pujol, Carretera de Canyet, s/n, 08916, Badalona, Barcelona, Spain. Electronic address: igranada@iconcologia.net.

Laura Palomo (L)

MDS Research Group, Josep Carreras Leukaemia Research Institute, ICO-Hospital GermansTrias i Pujol, Universitat Autònoma de Barcelona, Carretera de Can Ruti, Camí de les escoles, s/n, 08916, Badalona, Barcelona, Spain. Electronic address: lpalomo@carrerasresearch.org.

Neus Ruiz-Xivillé (N)

Hematology Laboratory Service, ICO-Hospital GermansTrias i Pujol, Carretera de Canyet, s/n, 08916, Badalona, Barcelona, Spain. Electronic address: nruiz@iconcologia.net.

Mar Mallo (M)

MDS Research Group, Josep Carreras Leukaemia Research Institute, ICO-Hospital GermansTrias i Pujol, Universitat Autònoma de Barcelona, Carretera de Can Ruti, Camí de les escoles, s/n, 08916, Badalona, Barcelona, Spain. Electronic address: mmallo@carrerasresearch.org.

Francesc Solé (F)

Hematology Laboratory Service, ICO-Hospital GermansTrias i Pujol, Carretera de Canyet, s/n, 08916, Badalona, Barcelona, Spain; MDS Research Group, Josep Carreras Leukaemia Research Institute, ICO-Hospital GermansTrias i Pujol, Universitat Autònoma de Barcelona, Carretera de Can Ruti, Camí de les escoles, s/n, 08916, Badalona, Barcelona, Spain. Electronic address: fsole@carrerasresearch.org.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Aberrations des chromosomes › Cytogenetics in the genomic era.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse cytogénétique › Cytogenetics in the genomic era.
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Tumeurs hématologiques › Cytogenetics in the genomic era.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Cytogenetics in the genomic era.
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladie chronique › Leucémie chronique lymphocytaire à cellules B › Cytogenetics in the genomic era.
questionsmedicales.fr › Maladies du système immunitaire › Syndromes immunoprolifératifs › Syndromes lymphoprolifératifs › Lymphomes › Lymphome malin non hodgkinien › Cytogenetics in the genomic era.
questionsmedicales.fr › Maladies du système immunitaire › Syndromes immunoprolifératifs › Paraprotéinémies › Myélome multiple › Cytogenetics in the genomic era.
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Maladies de la moelle osseuse › Syndromes myélodysplasiques › Cytogenetics in the genomic era.