PMID- 21638517
OWN - NLM
STAT- MEDLINE
DCOM- 20111024
LR  - 20151119
IS  - 1098-2264 (Electronic)
IS  - 1045-2257 (Linking)
VI  - 50
IP  - 9
DP  - 2011 Sep
TI  - Multiplex ligation-dependent probe amplification and fluorescence in situ 
      hybridization to detect chromosomal abnormalities in chronic lymphocytic 
      leukemia: a comparative study.
PG  - 726-34
LID - 10.1002/gcc.20894 [doi]
AB  - Chronic lymphocytic leukemia (CLL) is a clinically heterogeneous disease 
      characterized by recurrent chromosomal aberrations of prognostic significance. We 
      aimed to evaluate the potential of the multiplex ligation-dependent probe 
      amplification (MLPA) assay to detect genomic alterations in CLL. Highly purified 
      (>90%) peripheral mononuclear CD19+ cell populations from 100 untreated CLL 
      patients (pts) in early stage disease (Binet stage A) were included in this 
      study. All samples were investigated by fluorescence in situ hybridization (FISH) 
      for the presence of trisomy 12 and 17p13.1, 11q22.3, and 13q14.3 deletions. For 
      MPLA analysis, DNA was amplified by means of two commercially available probes 
      sets allowing the simultaneous screening of 56 genomic sequences. Overall, a high 
      degree of concordance (95%) between MPLA and FISH results was found, if the 
      abnormal clone was present in more than 30% of the leukemic cell population. The 
      use of multiple MPLA probes allowed the fine-mapping of the 13q14 deletion and 
      the identification of intragenic or small alterations undetected by FISH. 
      Moreover, additional alterations in 2p24 (MYCN) (3 pts), 8q24 (MYC) (1 pt), 9p21 
      (CDKN2A2B) (1 pt), 1q21 (LMNA) (1 pt), and 6q25-26 (1 pt) regions not covered by 
      a standard FISH assay were detected and all confirmed by FISH. Our data extend 
      previously limited evidence that MLPA may represent a useful technique for the 
      characterization of well-known lesions as well as the investigation of additional 
      genomic changes in CLL.
CI  - Copyright (c) 2011 Wiley-Liss, Inc.
FAU - Fabris, Sonia
AU  - Fabris S
AD  - Ematologia 1-CTMO, Fondazione Ca Granda IRCCS Policlinico and Dipartimento di 
      Scienze Mediche, Universita di Milano, Via F. Sforza 35, Milan, Italy.
FAU - Scarciolla, Oronzo
AU  - Scarciolla O
FAU - Morabito, Fortunato
AU  - Morabito F
FAU - Cifarelli, Rosa Anna
AU  - Cifarelli RA
FAU - Dininno, Caterina
AU  - Dininno C
FAU - Cutrona, Giovanna
AU  - Cutrona G
FAU - Matis, Serena
AU  - Matis S
FAU - Recchia, Anna Grazia
AU  - Recchia AG
FAU - Gentile, Massimo
AU  - Gentile M
FAU - Ciceri, Gabriella
AU  - Ciceri G
FAU - Ferrarini, Manlio
AU  - Ferrarini M
FAU - Ciancio, Angela
AU  - Ciancio A
FAU - Mannarella, Clara
AU  - Mannarella C
FAU - Neri, Antonino
AU  - Neri A
FAU - Fragasso, Alberto
AU  - Fragasso A
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20110602
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (Antigens, CD19)
RN  - 0 (Biomarkers, Tumor)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Antigens, CD19/metabolism
MH  - Biomarkers, Tumor/*genetics
MH  - *Chromosome Aberrations
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 11
MH  - Chromosomes, Human, Pair 12
MH  - Chromosomes, Human, Pair 13
MH  - Chromosomes, Human, Pair 17
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Leukemia, Lymphocytic, Chronic, B-Cell/diagnosis/*genetics/pathology
MH  - Leukocytes, Mononuclear/metabolism
MH  - Male
MH  - Middle Aged
MH  - Prognosis
MH  - Sequence Analysis, DNA/*methods
MH  - Trisomy
EDAT- 2011/06/04 06:00
MHDA- 2011/10/25 06:00
CRDT- 2011/06/04 06:00
PHST- 2011/03/18 00:00 [received]
PHST- 2011/04/29 00:00 [accepted]
PHST- 2011/06/04 06:00 [entrez]
PHST- 2011/06/04 06:00 [pubmed]
PHST- 2011/10/25 06:00 [medline]
AID - 10.1002/gcc.20894 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2011 Sep;50(9):726-34. doi: 10.1002/gcc.20894. Epub 
      2011 Jun 2.