PMID- 17656258
OWN - NLM
STAT- MEDLINE
DCOM- 20080624
LR  - 20070727
IS  - 1873-4456 (Electronic)
IS  - 0165-4608 (Linking)
VI  - 176
IP  - 2
DP  - 2007 Jul 15
TI  - A novel t(8;18)(q13;q21) in acute monocytic leukemia evolving from constitutional 
      trisomy 8 mosaicism.
PG  - 144-9
AB  - Constitutional trisomy 8 mosaicism (CT8M) has been considered to be the first 
      mutation in multistep carcinogenesis. We describe the case of a 38-year-old woman 
      with a normal phenotype who developed to acute monocytic leukemia with a novel 
      t(8;18)(q13;q21). Chromosome analysis and spectral karyotyping showed 
      47,XX,+8,t(8;18)(q13;q21)[20]. Fluorescence in situ hybridization (FISH) 
      demonstrated that the breakpoint at 18q21 was centromeric to the MALT1 and BCL2 
      genes. FISH also revealed that trisomy 8 was detected in buccal mucosa cells, 
      indicating that trisomy 8 was a constitutional abnormality. These results suggest 
      that t(8;18)(q13;q21) had a crucial role in the development of leukemia as the 
      second mutation following CT8M.
FAU - Yamamoto, Katsuya
AU  - Yamamoto K
AD  - Hematology/Oncology, Department of Medicine, Kobe University Graduate School of 
      Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.
FAU - Okamura, Atsuo
AU  - Okamura A
FAU - Kawano, Hiroki
AU  - Kawano H
FAU - Katayama, Yoshio
AU  - Katayama Y
FAU - Shimoyama, Manabu
AU  - Shimoyama M
FAU - Matsui, Toshimitsu
AU  - Matsui T
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
SB  - IM
MH  - Adult
MH  - *Chromosomes, Human, Pair 18
MH  - *Chromosomes, Human, Pair 8
MH  - Female
MH  - Humans
MH  - Leukemia, Monocytic, Acute/diagnosis/*genetics/pathology
MH  - *Mosaicism
MH  - Spectral Karyotyping
MH  - *Translocation, Genetic
MH  - Trisomy/*genetics
EDAT- 2007/07/28 09:00
MHDA- 2008/06/25 09:00
CRDT- 2007/07/28 09:00
PHST- 2007/04/18 00:00 [received]
PHST- 2007/04/26 00:00 [accepted]
PHST- 2007/07/28 09:00 [pubmed]
PHST- 2008/06/25 09:00 [medline]
PHST- 2007/07/28 09:00 [entrez]
AID - S0165-4608(07)00222-1 [pii]
AID - 10.1016/j.cancergencyto.2007.04.008 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2007 Jul 15;176(2):144-9. doi: 
      10.1016/j.cancergencyto.2007.04.008.