| Autor: |
Kelly JC; Cytogenetics Department, Quest Diagnostics Nichols Institute, Chantilly, VA 20151, USA. joey.c.kelly@questdiagnostics.com, Shahbazi N, Scheerle J, Jahn J, Suchen S, Christacos NC, Mowrey PN, Witt MH, Hostetter A, Meloni-Ehrig AM |
| Jazyk: |
angličtina |
| Zdroj: |
Cancer genetics and cytogenetics [Cancer Genet Cytogenet] 2009 Jul; Vol. 192 (1), pp. 36-9. |
| DOI: |
10.1016/j.cancergencyto.2009.02.012 |
| Abstrakt: |
We report a rare cryptic ins(12;9)(p13;q34q34), a chromosomal abnormality involving the ABL1 (9q34) and the ETV6 (alias TEL; 12p13) genes, detectable only by fluorescence in situ hybridization (FISH), in a patient with Philadelphia-negative chronic myeloid leukemia (CML). Using reverse 4',6-diamidino-2-phenylindole banding on metaphase cells, FISH analysis with BCR/ABL dual-fusion and ETV6 break-apart probes showed that a third ABL signal was inserted into 12p, splitting the ETV6 signal into two adjacent signals. CML patients with an ABL1/ETV6 fusion historically have demonstrated a variable and sometimes transient response to treatment with imatinib mesylate, which was also the case in the present patient. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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