PMID- 10719368
OWN - NLM
STAT- MEDLINE
DCOM- 20000518
LR  - 20211203
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 27
IP  - 4
DP  - 2000 Apr
TI  - Amplification of the MLL gene on double minutes, a homogeneously staining region, 
      and ring chromosomes in five patients with acute myeloid leukemia or 
      myelodysplastic syndrome.
PG  - 380-6
AB  - Gene amplification is one of the mechanisms for activating proto-oncogenes 
      resulting in an enhanced expression of the corresponding gene product. By 
      fluorescence in situ hybridization (FISH), amplification of the proto-oncogene 
      MLL has been described only in seven patients with acute myeloid leukemia (AML). 
      We report five new patients (four had de novo AML, one had a de novo 
      myelodysplastic syndrome) displaying different mechanisms of MLL amplification, 
      suspected by G-banding and confirmed by FISH analysis. In two patients, MLL was 
      amplified on double-minute chromosomes (dmins). In both cases, an interstitial 
      deletion in 11q23 including the MLL gene was associated with the occurrence of 
      the dmins containing MLL. As a rarely described mechanism, MLL amplification in 
      the form of size-variable ring chromosomes was observed in two patients. 
      Remodeling of the ring chromosomes leads to multiple copies of MLL and obviously 
      provided a selective growth advantage. In one of the two cases with ring 
      chromosomes, the centromeric alpha-satellite DNA of the ring chromosome was not 
      detectable. Our fifth patient showed the unique finding of MLL amplification 
      within a uniformly (homogeneously?) stained region in interaction with amplified 
      ribosomal DNA sequences. Also, one of the patients with ring chromosomes 
      exhibited the amplification of ribosomal DNA on the ring chromosomes. The 
      transcriptionally active genes for ribosomal RNA could probably enhance the 
      expression of MLL. In one of our five patients, we found the new combination of 
      concomitant amplification of the proto-oncogenes MLL and MYC.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Streubel, B
AU  - Streubel B
AD  - Institut fur Medizinische Biologie der Universitat Wien, Vienna, Austria.
FAU - Valent, P
AU  - Valent P
FAU - Jager, U
AU  - Jager U
FAU - Edelhauser, M
AU  - Edelhauser M
FAU - Wandt, H
AU  - Wandt H
FAU - Wagner, T
AU  - Wagner T
FAU - Buchner, T
AU  - Buchner T
FAU - Lechner, K
AU  - Lechner K
FAU - Fonatsch, C
AU  - Fonatsch C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Female
MH  - Gene Amplification/*genetics
MH  - Humans
MH  - Leukemia, Myeloid, Acute/*genetics
MH  - Male
MH  - Middle Aged
MH  - Myelodysplastic Syndromes/*genetics
MH  - Proto-Oncogene Mas
MH  - *Proto-Oncogenes
MH  - *Ring Chromosomes
MH  - Staining and Labeling/methods
EDAT- 2000/03/17 09:00
MHDA- 2000/05/20 09:00
CRDT- 2000/03/17 09:00
PHST- 2000/03/17 09:00 [pubmed]
PHST- 2000/05/20 09:00 [medline]
PHST- 2000/03/17 09:00 [entrez]
AID - 10.1002/(SICI)1098-2264(200004)27:4<380::AID-GCC7>3.0.CO;2-# [pii]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2000 Apr;27(4):380-6.