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Insertion (12;9)(p13;q34q34): a cryptic rearrangement involving ABL1/ETV6 fusion in a patient with Philadelphia-negative chronic myeloid leukemia

JoAnn C Kelly, Nasrin Shahbazi, Jay Scheerle, Jennifer Jahn, Stephany Suchen, Nicole C Christacos, Philip N Mowrey, Mary H Witt, Alden Hostetter, and Aurelia M Meloni-Ehrig

Cancer Genet Cytogenet 192(1):4 (2009) PMID 19480935

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.

DOI: 10.1016/j.cancergencyto.2009.02.012
Version: za2963e q8zaf q8zb1 q8zc9 q8zdf q8zef q8zff q8zg0

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