PMID- 24263214
OWN - NLM
STAT- MEDLINE
DCOM- 20160921
LR  - 20141015
IS  - 1804-7521 (Electronic)
IS  - 1213-8118 (Linking)
VI  - 158
IP  - 3
DP  - 2014 Sep
TI  - Molecular genetic methods in the diagnosis of myelodysplastic syndromes. A 
      review.
PG  - 339-45
LID - 10.5507/bp.2013.084 [doi]
AB  - BACKGROUND: Myelodysplastic syndromes (MDS) represent a heterogeneous group of 
      premalignant hematologic disorders characterized by ineffective hematopoiesis, 
      peripheral blood cytopenias and increased risk of progression to acute leukemia. 
      Cytogenetic analysis still plays a central role in the diagnosis of MDS, as 
      clonal chromosomal abnormalities are observed in 30-50% of MDS patients. Despite 
      their technical limitations, standard karyotyping and fluorescence in situ 
      hybridization (FISH) are routinely used for identifying recurrent chromosomal 
      rearrangements. However, using this approach means that submicroscopic and not 
      targeted chromosomal aberrations, as well as somatic mutations and epigenetic 
      changes remain largely undetected. METHODS AND RESULTS: Introduction of methods 
      for the analysis of copy-number variations (CNV), including array-based 
      technologies and Multiplex ligation-dependent probe amplification (MLPA) has 
      provided novel insights into the molecular pathogenesis of MDS and considerably 
      extended possibilities for genetic laboratory testing. Several novel molecular 
      markers have been discovered and used for diagnosis and prognostic evaluation of 
      patients with MDS. At present, mutational analysis is not routinely performed, as 
      the clinical significance of somatic mutations in MDS has only begun to emerge. 
      However, recently introduced Next-generation sequencing (NGS) technologies could 
      help to elucidate the relationship between chromosomal and molecular aberrations 
      in MDS and lead to further improvement in its diagnosis. CONCLUSION: This review 
      focuses on the advantages, limitations, clinical applications and future 
      perspectives of three molecular methods (array-based analysis, MLPA and NGS) 
      currently used in genetic testing and/ or translational research of MDS. In 
      conclusion, a brief summary for clinicians from the routine diagnostic point of 
      view is given.
FAU - Lukackova, Renata
AU  - Lukackova R
AD  - Department of Clinical Genetics, Medirex a.s., Bratislava, Slovak Republic.
FAU - Gerykova Bujalkova, Maria
AU  - Gerykova Bujalkova M
FAU - Majerova, Lubica
AU  - Majerova L
FAU - Mladosievicova, Beata
AU  - Mladosievicova B
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20131120
PL  - Czech Republic
TA  - Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
JT  - Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, 
      Czechoslovakia
JID - 101140142
SB  - IM
MH  - Chromosome Aberrations
MH  - Cytogenetic Analysis
MH  - *Cytological Techniques
MH  - DNA Copy Number Variations
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Multiplex Polymerase Chain Reaction
MH  - Myelodysplastic Syndromes/*diagnosis
MH  - Phenotype
MH  - Prognosis
EDAT- 2013/11/23 06:00
MHDA- 2016/09/23 06:00
CRDT- 2013/11/23 06:00
PHST- 2013/05/22 00:00 [received]
PHST- 2013/11/06 00:00 [accepted]
PHST- 2013/11/23 06:00 [entrez]
PHST- 2013/11/23 06:00 [pubmed]
PHST- 2016/09/23 06:00 [medline]
AID - 10.5507/bp.2013.084 [doi]
PST - ppublish
SO  - Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2014 Sep;158(3):339-45. doi: 
      10.5507/bp.2013.084. Epub 2013 Nov 20.