PMID- 18617061
OWN - NLM
STAT- MEDLINE
DCOM- 20080730
LR  - 20091119
IS  - 1873-4456 (Electronic)
IS  - 0165-4608 (Linking)
VI  - 184
IP  - 2
DP  - 2008 Jul 15
TI  - Spectral karyotyping and fluorescence in situ hybridization analyses identified a 
      novel three-way translocation involving inversion 16 in therapy-related acute 
      myeloid leukemia M4eo.
PG  - 113-8
LID - 10.1016/j.cancergencyto.2008.04.008 [doi]
AB  - We report a novel three-way translocation involving inversion 16 and chromosome 
      12 at bands 16p13, 16q22, and 12q24 in a patient with therapy-related acute 
      myeloid leukemia (AML)-M4eo. Conventional G-banding of bone marrow cells at 
      diagnosis was suggestive of inv(16)(p13q22) and a translocation of chromosomes 12 
      and 16. The presence of inv(16) was confirmed by reverse-transcription polymerase 
      chain reaction (RT-PCR) analysis, which corresponded to the type A CBFB-MYH11 
      chimeric transcript. Spectral karyotyping (SKY) analysis clearly identified a 
      reciprocal translocation between chromosomes 12 and 16. In addition, dual-color 
      fluorescence in situ hybridization (FISH) analysis revealed a fusion signal for 
      the CBFB and MYH11 probes and a signal for the MYH11 probe on the der(16) 
      chromosome, as well as a signal for the CBFB probe on the der(12) chromosome. 
      Thus, the karyotype was refined to 
      46,XX,der(12)t(12;16)(q24;q22),der(16)inv(16)(p13q22)t(12;16). Although we could 
      not establish that this complex chromosomal aberration occurred either as a 
      one-step, three-way event, or a sequential event with inv(16)(p13q22) followed by 
      t(12;16)(q24;q22), SKY in combination with FISH and RT-PCR analyses successfully 
      detected this complex chromosome abnormality in the patient.
FAU - Ohsaka, Akimichi
AU  - Ohsaka A
AD  - Department of Transfusion Medicine and Stem Cell Regulation, Juntendo University 
      School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan. 
      ohsaka@med.juntendo.ac.jp
FAU - Otsubo, Kaori
AU  - Otsubo K
FAU - Yokota, Harushige
AU  - Yokota H
FAU - Hisa, Tomoko
AU  - Hisa T
FAU - Saito, Hajime
AU  - Saito H
FAU - Kozaki, Takazumi
AU  - Kozaki T
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
SB  - IM
MH  - Antineoplastic Combined Chemotherapy Protocols/adverse effects
MH  - *Chromosome Inversion
MH  - *Chromosomes, Human, Pair 16
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Leukemia, Myeloid, Acute/chemically induced/*genetics
MH  - Middle Aged
MH  - Neoplasms, Second Primary/*genetics
MH  - *Spectral Karyotyping
MH  - *Translocation, Genetic
EDAT- 2008/07/12 09:00
MHDA- 2008/07/31 09:00
CRDT- 2008/07/12 09:00
PHST- 2008/01/21 00:00 [received]
PHST- 2008/04/04 00:00 [revised]
PHST- 2008/04/09 00:00 [accepted]
PHST- 2008/07/12 09:00 [pubmed]
PHST- 2008/07/31 09:00 [medline]
PHST- 2008/07/12 09:00 [entrez]
AID - S0165-4608(08)00237-9 [pii]
AID - 10.1016/j.cancergencyto.2008.04.008 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2008 Jul 15;184(2):113-8. doi: 
      10.1016/j.cancergencyto.2008.04.008.