PMID- 24967369
OWN - NLM
STAT- MEDLINE
DCOM- 20150212
LR  - 20211021
IS  - 2314-6141 (Electronic)
IS  - 2314-6133 (Print)
VI  - 2014
DP  - 2014
TI  - Genetic abnormalities in chronic lymphocytic leukemia: where we are and where we 
      go.
PG  - 435983
LID - 10.1155/2014/435983 [doi]
LID - 435983
AB  - Chromosomal abnormalities in chronic lymphocytic leukemia (CLL) are detected in 
      up to 80% of patients. Among them, deletions of 11q, 13q, 17p, and trisomy 12 
      have a known prognostic value and play an important role in CLL pathogenesis and 
      evolution, determining patients outcome and therapeutic strategies. Standard 
      methods used to identify these genomic aberrations include both conventional 
      G-banding cytogenetics (CGC) and fluorescence in situ hybridization (FISH). 
      Although FISH analyses have been implemented as the gold standard, CGC allows the 
      identification of chromosomal translocations and complex karyotypes, the latest 
      associated with poor outcome. Genomic arrays have a higher resolution that allows 
      the detection of cryptic abnormalities, although these have not been fully 
      implemented in routine laboratories. In the last years, next generation 
      sequencing (NGS) methods have identified a wide range of gene mutations (e.g., 
      TP53, NOTCH1, SF3B1, and BIRC3) which have improved our knowledge about CLL 
      development, allowing us to refine both the prognostic subgroups and better 
      therapeutic strategies. Clonal evolution has also recently arisen as a key point 
      in CLL, integrating cytogenetic alterations and mutations in a dynamic model that 
      improve our understanding about its clinical course and relapse.
FAU - Puiggros, Anna
AU  - Puiggros A
AUID- ORCID: 0000-0001-9627-4978
AD  - Laboratori de Citogenetica Molecular, Servei de Patologia, Hospital del Mar, 
      Passeig Maritim 25-29, 08003 Barcelona, Spain ; GRETNHE, Programa de Recerca en 
      Cancer, Institut Hospital del Mar d'Investigacions Mediques, Doctor Aiguader 88, 
      08003 Barcelona, Spain.
FAU - Blanco, Gonzalo
AU  - Blanco G
AUID- ORCID: 0000-0001-6557-3764
AD  - Laboratori de Citogenetica Molecular, Servei de Patologia, Hospital del Mar, 
      Passeig Maritim 25-29, 08003 Barcelona, Spain ; GRETNHE, Programa de Recerca en 
      Cancer, Institut Hospital del Mar d'Investigacions Mediques, Doctor Aiguader 88, 
      08003 Barcelona, Spain ; Department of Experimental and Health Sciences, 
      Universitat Pompeu Fabra, Doctor Aiguader 88, 08003 Barcelona, Spain.
FAU - Espinet, Blanca
AU  - Espinet B
AUID- ORCID: 0000-0002-4294-8145
AD  - Laboratori de Citogenetica Molecular, Servei de Patologia, Hospital del Mar, 
      Passeig Maritim 25-29, 08003 Barcelona, Spain ; GRETNHE, Programa de Recerca en 
      Cancer, Institut Hospital del Mar d'Investigacions Mediques, Doctor Aiguader 88, 
      08003 Barcelona, Spain.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20140522
PL  - United States
TA  - Biomed Res Int
JT  - BioMed research international
JID - 101600173
RN  - 0 (Neoplasm Proteins)
RN  - Chromosome 12, 12p trisomy
SB  - IM
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 12/genetics
MH  - High-Throughput Nucleotide Sequencing/methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Leukemia, Lymphocytic, Chronic, B-Cell/*genetics
MH  - Neoplasm Proteins/*genetics
MH  - Oligonucleotide Array Sequence Analysis/methods
MH  - Trisomy/*genetics
PMC - PMC4054680
EDAT- 2014/06/27 06:00
MHDA- 2015/02/13 06:00
PMCR- 2014/05/22
CRDT- 2014/06/27 06:00
PHST- 2014/03/13 00:00 [received]
PHST- 2014/04/22 00:00 [accepted]
PHST- 2014/06/27 06:00 [entrez]
PHST- 2014/06/27 06:00 [pubmed]
PHST- 2015/02/13 06:00 [medline]
PHST- 2014/05/22 00:00 [pmc-release]
AID - 10.1155/2014/435983 [doi]
PST - ppublish
SO  - Biomed Res Int. 2014;2014:435983. doi: 10.1155/2014/435983. Epub 2014 May 22.