Characterization of Chromosomal Rearrangements in Hematological Diseases Using Spectral Karyotyping
| Autor: | Joelle Tchinda, Jürgen Horst, Wolfgang E. Berdel, Sarah Volpert, Thomas Büchner, Thomas Neumann |
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| Rok vydání: | 2004 |
| Předmět: |
Adult
Aged 80 and over Gene Rearrangement Male Hematological disorders Pathology medicine.medical_specialty Adolescent Spectral Karyotyping Infant Karyotype Cell Biology Middle Aged Biology Hematologic Diseases Pathology and Forensic Medicine Hematological Diseases Child Preschool medicine Humans Fish Female Molecular Biology In Situ Hybridization Fluorescence Aged |
| Zdroj: | Diagnostic Molecular Pathology. 13:190-195 |
| ISSN: | 1052-9551 |
| DOI: | 10.1097/01.pas.0000124338.49401.ef |
| Popis: | Sincechromosomalchangesareusedbothasindependentprognostic factors and for therapy design in hematological disorders,itisnecessarytoelucidatechromosomalchangesasaccuratelyaspos-sible. We used spectral karyotyping (SKY) and fluorescence in situhybridization(FISH)tofurthercharacterizechromosomalabnormali-ties in 35 patients with hematological disorders. SKY confirmed 149aberrations, refined 117, and detected 11 hidden changes. Eighteenabnormalities were detected only by G-banding. Ten monosomiesand two deletions described by G-banding were shown to be involvedintranslocationsorringchromosomes.TheseresultsdemonstratethatSKY increases the accuracy of karyotype interpretation, which is im-portant for proper diagnosis and management of hematological ma-lignancies. Key Words: spectral karyotyping, hematological disorders( Diagn Mol Pathol 2004:13:190–195) S ince the introduction of chromosome banding techniques,numerous recurrent aberrations have been identified in he-matological malignancies, and their detection has become es-sential for accurate diagnosis and clinical management of pa-tients. Chromosomal aberrations represent one of the most im-portant independent prognostic factors, concerning thelikelihoodofremissioninductionandriskofrelapse.Recently,some of these aberrations have been used within the WHOclassification to define specific disease subgroups. |
| Databáze: | OpenAIRE |
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