Author/Authors :
Kelly، نويسنده , , JoAnn C. and Shahbazi، نويسنده , , Nasrin and Scheerle، نويسنده , , Jay and Jahn، نويسنده , , Jennifer and Suchen، نويسنده , , Stephany and Christacos، نويسنده , , Nicole C. and Mowrey، نويسنده , , Philip N. and Witt، نويسنده , , Mary H. and Hostetter، نويسنده , , Alden and Meloni-Ehrig، نويسنده , , Aurelia M.، نويسنده ,
Abstract :
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.
