PMID- 17350468
OWN - NLM
STAT- MEDLINE
DCOM- 20070411
LR  - 20220419
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 174
IP  - 1
DP  - 2007 Apr 1
TI  - Translocations as a mechanism for homozygous deletion of 13q14 and loss of the 
      ATM gene in a patient with B-cell chronic lymphocytic leukemia.
PG  - 57-60
AB  - Chromosomal aberrations detected by fluorescence in situ hybridization (FISH) on 
      interphase nuclei are important prognostic markers in chronic lymphocytic 
      leukemia (CLL). Deletions in 13q14 and in 11q22.3 are two of the most frequent 
      aberrations in this disease entity (55 and 18%, respectively) and are usually 
      effected by interstitial deletions. Here, we report on the case of a 66-year-old 
      woman with CLL who was analyzed by conventional metaphase cytogenetics as well as 
      fluorescence in situ hybridization. Deletion-specific probes detected a 
      homozygous loss of two anonymous loci in chromosomal band 13q14 in parallel with 
      a heterozygous loss of the ATM gene located in chromosomal band 11q22.3. 
      Karyotype analysis indicated reciprocal but unbalanced translocations involving 
      chromosomes 3, 11, and 13. Deleted sites on 13q14 appeared to be located within 
      the breakpoint regions of the translocations. We show that mechanisms other than 
      interstitial deletions may lead to loss of critical chromosomal regions in CLL.
FAU - Herholz, Hannes
AU  - Herholz H
AD  - MLL Munich Leukemia Laboratory, Max-Lebsche-Platz 31, 81377 Munich, Germany. 
      hannes.herholz@mll-online.com
FAU - Kern, Wolfgang
AU  - Kern W
FAU - Schnittger, Susanne
AU  - Schnittger S
FAU - Haferlach, Torsten
AU  - Haferlach T
FAU - Dicker, Frank
AU  - Dicker F
FAU - Haferlach, Claudia
AU  - Haferlach C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (Cell Cycle Proteins)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Tumor Suppressor Proteins)
RN  - EC 2.7.11.1 (ATM protein, human)
RN  - EC 2.7.11.1 (Ataxia Telangiectasia Mutated Proteins)
RN  - EC 2.7.11.1 (Protein Serine-Threonine Kinases)
SB  - IM
MH  - Aged
MH  - Ataxia Telangiectasia Mutated Proteins
MH  - Cell Cycle Proteins/*genetics
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosome Painting
MH  - Chromosomes, Human, Pair 11/*genetics
MH  - Chromosomes, Human, Pair 13/*genetics
MH  - Chromosomes, Human, Pair 3/genetics
MH  - DNA-Binding Proteins/*genetics
MH  - Female
MH  - Gene Deletion
MH  - *Homozygote
MH  - Humans
MH  - Karyotyping
MH  - Leukemia, Lymphocytic, Chronic, B-Cell/*genetics
MH  - Protein Serine-Threonine Kinases/*genetics
MH  - *Translocation, Genetic
MH  - Tumor Suppressor Proteins/*genetics
EDAT- 2007/03/14 09:00
MHDA- 2007/04/12 09:00
CRDT- 2007/03/14 09:00
PHST- 2006/10/13 00:00 [received]
PHST- 2006/11/06 00:00 [accepted]
PHST- 2007/03/14 09:00 [pubmed]
PHST- 2007/04/12 09:00 [medline]
PHST- 2007/03/14 09:00 [entrez]
AID - S0165-4608(06)00733-3 [pii]
AID - 10.1016/j.cancergencyto.2006.11.006 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2007 Apr 1;174(1):57-60. doi: 
      10.1016/j.cancergencyto.2006.11.006.