PMID- 11503956
OWN - NLM
STAT- MEDLINE
DCOM- 20020912
LR  - 20181113
IS  - 0925-5710 (Print)
IS  - 0925-5710 (Linking)
VI  - 73
IP  - 4
DP  - 2001 Jun
TI  - Chromosome and molecular abnormalities in myelodysplastic syndromes.
PG  - 429-437
LID - 10.1007/BF02994004 [doi]
AB  - Cytogenetic abnormalities are seen in approximately 50% of cases of 
      myelodysplastic syndrome (MDS) and 80% of cases of secondary MDS (following 
      chemotherapy or radiotherapy). These abnormalities generally consist of partial 
      or complete chromosome deletion or addition (del5q, -7, +8, -Y, del20q), whereas 
      balanced or unbalanced translocations are rarely found in MDS. Fluorescence 
      hybridization techniques (fluorescence in situ hybridization [FISH], multiplex 
      FISH, and spectral karyotyping) are useful in detecting chromosomal anomalies in 
      cases in which few mitoses are obtained or rearrangements are complex. Ras 
      mutations are the molecular abnormalities most frequently found in MDS, followed 
      by p15 gene hypermethylation, FLT3 duplications, and p53 mutations, but none of 
      these abnormalities are specific for MDS. The rare cases of balanced 
      translocations in MDS have allowed the identification of genes whose 
      rearrangements appear to play a role in the pathogenesis of some cases of MDS. 
      These genes include MDS1-EVI1 in t(3;3) or t(3;21) translocations, TEL in 
      t(5;12), HIP1 in t(5;7), MLF1 in t(3;5), and MEL1 in t(1;3). Genes more 
      frequently implicated in the pathogenesis of MDS cases, such as those involving 
      del5q, remain unknown, although some candidate genes are currently being studied. 
      Cytogenetic and known molecular abnormalities generally carry a poor prognosis in 
      MDS and can be incorporated into prognostic scoring systems such as the 
      International Prognostic Scoring System.
FAU - Fenaux, Pierre
AU  - Fenaux P
AD  - CHU de Lille, France. pfenaux@chru-lille.fr.
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Japan
TA  - Int J Hematol
JT  - International journal of hematology
JID - 9111627
SB  - IM
MH  - *Chromosome Aberrations
MH  - Cytogenetics
MH  - Humans
MH  - Mutation
MH  - Myelodysplastic Syndromes/*genetics
RF  - 76
EDAT- 2001/08/16 10:00
MHDA- 2002/09/13 10:01
CRDT- 2001/08/16 10:00
PHST- 2001/08/16 10:00 [pubmed]
PHST- 2002/09/13 10:01 [medline]
PHST- 2001/08/16 10:00 [entrez]
AID - 10.1007/BF02994004 [pii]
AID - 10.1007/BF02994004 [doi]
PST - ppublish
SO  - Int J Hematol. 2001 Jun;73(4):429-437. doi: 10.1007/BF02994004.