Multicolor spectral karyotyping identifies novel translocations in childhood acute lymphoblastic leukemia
| Autor: | Susana C. Raimondi, James R. Downing, Susan Mathew, James Dalton, PH Rao |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Cancer Research medicine.medical_specialty Adolescent Chromosomal translocation Biology Translocation Genetic Acute lymphocytic leukemia medicine Humans Child Metaphase Childhood Acute Lymphoblastic Leukemia In Situ Hybridization Fluorescence Genetics medicine.diagnostic_test Cytogenetics Chromosome Infant Karyotype Hematology Precursor Cell Lymphoblastic Leukemia-Lymphoma medicine.disease Oncology Child Preschool Karyotyping Fluorescence in situ hybridization |
| Zdroj: | Leukemia. 15(3) |
| ISSN: | 0887-6924 |
| Popis: | We used a recently described molecular cytogenetic method, spectral karyotyping (SKY), to analyze metaphase chromosomes from 30 pediatric patients with acute lymphoblastic leukemia (ALL). This group included 20 patients whose leukemic blast cells lacked chromosomal abnormalities detected by conventional cytogenetics and 10 patients whose blast cells had multiple chromosomal abnormalities that could not be completely identified by G-banding analysis. In two of the 20 patients (10%) with apparently normal karyotypes, SKY identified three cryptic translocations: a t(7;8)(q34-35;q24.1) in one patient and a t(13;17)(q22;q21) and a der(19)t(17;19)(q22;p13) in another. Fluorescence in situ hybridization using subtelomeric probes proved the latter translocation to be a t(17;19). SKY analysis was also successful in defining the nature of the chromosomal abnormalities in four of the 10 patients with marker and derivative chromosomes. The identified abnormalities in the latter group included three novel translocations: a der(X)t(X;5)(p11.4;q31), a der(21)t(X;21)(p11.4;p11.2) and a t(X;9)(p11.4;p13). The presence of the t(X;9) was suggested by conventional cytogenetics. The application of fluorescence in situ hybridization using chromosome-specific painting probes and locus-specific probes complemented the SKY analysis by confirming the nature of the chromosome rearrangements defined by SKY and by identifying the amplification of the AML1/CBFA2 gene in one patient with a duplicated 21q. Our study demonstrates the utility of SKY in identifying novel translocations and in refining the identity of chromosomal abnormalities in leukemias. |
| Databáze: | OpenAIRE |
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