title: Insertion (12;9)(p13;q34q34): a cryptic rearrangement involving ABL1/ETV6 fusion in a patient with Philadelphia-negative chronic myeloid leukemia.
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.
authors.affiliation: Cytogenetics Department, Quest Diagnostics Nichols Institute, Chantilly, VA 20151, USA. joey.c.kelly@questdiagnostics.com
authors.forename: JoAnn C
authors.initials: JC
authors.lastname: Kelly
authors.forename: Nasrin
authors.initials: N
authors.lastname: Shahbazi
authors.forename: Jay
authors.initials: J
authors.lastname: Scheerle
authors.forename: Jennifer
authors.initials: J
authors.lastname: Jahn
authors.forename: Stephany
authors.initials: S
authors.lastname: Suchen
authors.forename: Nicole C
authors.initials: NC
authors.lastname: Christacos
authors.forename: Philip N
authors.initials: PN
authors.lastname: Mowrey
authors.forename: Mary H
authors.initials: MH
authors.lastname: Witt
authors.forename: Alden
authors.initials: A
authors.lastname: Hostetter
authors.forename: Aurelia M
authors.initials: AM
authors.lastname: Meloni-Ehrig
mesh_terms: 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
chemical_list: D015514:Oncogene Proteins, Fusion; D011505:Protein-Tyrosine Kinases; C426234:TEL-ABL fusion protein, human; D000097764:ETS Translocation Variant 6 Protein