Diagnostic and prognostic significance of cytogenetics in adult primary myelodysplastic syndromes

Détails

ID Serval
serval:BIB_ECBAB3F67FB9
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Diagnostic and prognostic significance of cytogenetics in adult primary myelodysplastic syndromes
Périodique
Leukemia and Lymphoma
Auteur⸱e⸱s
Jotterand  M., Parlier  V.
ISSN
1042-8194 (Print)
Statut éditorial
Publié
Date de publication
10/1996
Volume
23
Numéro
3-4
Pages
253-66
Notes
Journal Article
Research Support, Non-U.S. Gov't
Review --- Old month value: Oct
Résumé
Cytogenetic analysis has proven to be a mandatory part of the diagnosis of myelodysplastic syndromes (MDS) as well as a major indicator for predicting clinical course and outcome. This review concentrates on the cytogenetic classifications, the incidence and types of chromosome defects and the prognostic significance of the karyotype in adult primary MDS. Two cytogenetic classifications are currently used: one is based on the karyotype complexity (normal, single, double or complex defects), the other on clonal status (all metaphases normal, abnormal or admixture of normal and abnormal clones). Chromosome abnormalities are of both numerical and structural types. Aside from the 5q-syndrome, no specific clinico-cytogenetic entity has been reported. However, several distinct clinical and cellular features have been identified that correlate with the presence of specific chromosome defects such as inv(3)/t(3;3), +6, t(5;12), del(17p) and del(20q). The presence of complex defects is associated with reduced survival and a high risk of leukemic transformation. Among single defects, specific abnormalities may define distinct prognostic groups. Patients with del(5q) as a sole chromosome defect and a refractory anemia without excess of blasts have a favourable prognosis. For patients with trisomy 8 or monosomy 7 there may be distinct types of clinical evolution. Most patients with the 3q21q26 syndrome have a short survival. The presence of two chromosome defects may constitute an independent cytogenetic entity probably associated with relative poor prognosis. Karyotypic evolution generally represents a poor risk factor. The combination of cytogenetics with clinical and hematological features has proven to provide for a better prediction of patients' survival, leukemic transformation and response to treatment. Several scoring systems have been developed. They have to be improved by the study of new patients according to strict clinical and cytogenetic criteria and by the addition of newly recognized prognostic indicators such as histopathological features and molecular genetic mutations.
Mots-clé
Adult Chromosome Aberrations Humans Karyotyping Myelodysplastic Syndromes/diagnosis/*genetics Prognosis
Pubmed
Web of science
Création de la notice
25/01/2008 14:18
Dernière modification de la notice
20/08/2019 16:14
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