PMID- 19480935
OWN - NLM
STAT- MEDLINE
DCOM- 20090615
LR  - 20091119
IS  - 1873-4456 (Electronic)
IS  - 0165-4608 (Linking)
VI  - 192
IP  - 1
DP  - 2009 Jul
TI  - Insertion (12;9)(p13;q34q34): a cryptic rearrangement involving ABL1/ETV6 fusion 
      in a patient with Philadelphia-negative chronic myeloid leukemia.
PG  - 36-9
LID - 10.1016/j.cancergencyto.2009.02.012 [doi]
AB  - 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.
FAU - Kelly, JoAnn C
AU  - Kelly JC
AD  - Cytogenetics Department, Quest Diagnostics Nichols Institute, Chantilly, VA 
      20151, USA. joey.c.kelly@questdiagnostics.com
FAU - Shahbazi, Nasrin
AU  - Shahbazi N
FAU - Scheerle, Jay
AU  - Scheerle J
FAU - Jahn, Jennifer
AU  - Jahn J
FAU - Suchen, Stephany
AU  - Suchen S
FAU - Christacos, Nicole C
AU  - Christacos NC
FAU - Mowrey, Philip N
AU  - Mowrey PN
FAU - Witt, Mary H
AU  - Witt MH
FAU - Hostetter, Alden
AU  - Hostetter A
FAU - Meloni-Ehrig, Aurelia M
AU  - Meloni-Ehrig AM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (TEL-ABL fusion protein, human)
RN  - EC 2.7.10.1 (Protein-Tyrosine Kinases)
SB  - IM
MH  - Aged
MH  - *Chromosomes, Human, Pair 12
MH  - *Chromosomes, Human, Pair 9
MH  - Fatal Outcome
MH  - Humans
MH  - Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative/diagnosis/*genetics
MH  - Male
MH  - *Mutagenesis, Insertional
MH  - Oncogene Proteins, Fusion/*genetics/physiology
MH  - Protein-Tyrosine Kinases/*genetics/physiology
EDAT- 2009/06/02 09:00
MHDA- 2009/06/16 09:00
CRDT- 2009/06/02 09:00
PHST- 2008/12/22 00:00 [received]
PHST- 2009/02/12 00:00 [revised]
PHST- 2009/02/13 00:00 [accepted]
PHST- 2009/06/02 09:00 [entrez]
PHST- 2009/06/02 09:00 [pubmed]
PHST- 2009/06/16 09:00 [medline]
AID - S0165-4608(09)00106-X [pii]
AID - 10.1016/j.cancergencyto.2009.02.012 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2009 Jul;192(1):36-9. doi: 
      10.1016/j.cancergencyto.2009.02.012.