Insertion (12;9)(p13;q34q34): a cryptic rearrangement involving ABL1/ETV6 fusion in a patient with Philadelphia-negative chronic myeloid leukemia.
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.
Kelly
JoAnn C
JC
Cytogenetics Department, Quest Diagnostics Nichols Institute, Chantilly, VA 20151, USA. joey.c.kelly@questdiagnostics.com
Shahbazi
Nasrin
N
Scheerle
Jay
J
Jahn
Jennifer
J
Suchen
Stephany
S
Christacos
Nicole C
NC
Mowrey
Philip N
PN
Witt
Mary H
MH
Hostetter
Alden
A
Meloni-Ehrig
Aurelia M
AM
D000368:Aged; D002881:Chromosomes, Human, Pair 12; D002899:Chromosomes, Human, Pair 9; D017809:Fatal Outcome; D006801:Humans; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D016254:Mutagenesis, Insertional; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000502:physiology; D011505:Protein-Tyrosine Kinases / Q000235:genetics* / Q000502:physiology; D000097764:ETS Translocation Variant 6 Protein
D015514:Oncogene Proteins, Fusion; D011505:Protein-Tyrosine Kinases; C426234:TEL-ABL fusion protein, human; D000097764:ETS Translocation Variant 6 Protein