Hyperdiploidy with trisomy 9 and deletion of the CDKN2A locus in T-cell acute lymphoblastic leukemia
| Autor: | Gregory E. Halligan, Ann Shoemaker McKenzie, Kelley R. Healey, S. Lauren Gray, Jean-Pierre de Chadarévian, Jennifer J.D. Morrissette |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Cancer Research T cell Locus (genetics) Trisomy Biology Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Somatic evolution in cancer Trisomy 9 Genetics medicine Humans Molecular Biology Metaphase In Situ Hybridization Fluorescence medicine.diagnostic_test Genes p16 Chromosome Mapping Karyotype medicine.disease Aneuploidy Molecular biology medicine.anatomical_structure Child Preschool Karyotyping Cancer research Hyperdiploidy Gene Deletion Fluorescence in situ hybridization |
| Zdroj: | Cancer genetics and cytogenetics. 190(2) |
| ISSN: | 1873-4456 |
| Popis: | We describe the rare finding of a T-cell acute lymphoblastic leukemia (T-ALL) and a pretreatment bone marrow karyotype mosaic for four distinct cell lines in a 4-year-old boy. G-banding analysis of metaphase cells identified a hyperdiploid cell line (52 chromosomes) trisomic for chromosomes 6, 9, 11, 13, 19, and 22. Fluorescence in situ hybridization (FISH) analysis demonstrated that these hyperdiploid cells were missing all three copies of the CDKN2A locus (alias p16/Ink4) at 9p21. FISH analysis of interphase nuclei identified two abnormal cell lines: the majority of cells with homozygous deletions of the CDKN2A locus and some with a heterozygous deletion. In addition, a normal signal pattern was identified in a few cells. This case represents a rare case of hyperdiploidy in T-ALL, and characterizes the clonal evolution of the 9p21 deletion leading to the abnormal karyotype. |
| Databáze: | OpenAIRE |
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