PMID- 26740820
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20160107
LR  - 20220316
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 9
DP  - 2016
TI  - Monoallelic and biallelic deletions of 13q14 in a group of CLL/SLL patients 
      investigated by CGH Haematological Cancer and SNP array (8x60K).
PG  - 1
LID - 10.1186/s13039-015-0212-x [doi]
LID - 1
AB  - BACKGROUND: Deletion of 13q14 is the most common cytogenetic change in chronic 
      lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) and is detected in 
      about 50 % of patients by fluorescence in situ hybridization (FISH), which can 
      reveal presence of del(13)(q14) and mono- or biallelic deletion status without 
      information about the size of the lost region. Array-comparative genomic 
      hybridization (aCGH) and single nucleotide polymorphism (SNP) can detect 
      submicroscopic copy number changes, loss of heterozygosity (LOH) and uniparental 
      disomy (UPD) regions. The purpose of this study was detection of the size of 
      del(13)(q14) deletion in our group of patients, comparing the size of the 
      monoallelic and biallelic deletions, detection of LOH and UPD regions. RESULTS: 
      We have investigated 40 CLL/SLL patients by karyotype, FISH and CGH and SNP 
      array. Mutational status was of immunoglobulin heavy-chain variable-region (IGVH) 
      was also examined. The size of deletion ranged from 348,12 Kb to 38.97 Mb. 
      Detected minimal deleted region comprised genes: TRIM13, miR-3613, KCNRG, DLEU2, 
      miR-16-1, miR-15a, DLEU1. The RB1 deletions were detected in 41 % of cases. The 
      average size in monoallelic 13q14 deletion group was 7,2 Mb while in biallelic 
      group was 4,8 Mb. In two cases 13q14 deletions were located in the bigger UPD 
      regions. CONCLUSIONS: Our results indicate that bigger deletion including RB1 or 
      presence of biallelic 13q14 deletion is not sufficient to be considered as 
      adverse prognostic factor in CLL/SLL. CytoSure Haematological Cancer and SNP 
      array (8x60k) can precisely detect recurrent copy number changes with known 
      prognostic significance in CLL/SLL as well as other chromosomal imbalances. The 
      big advantage of this array is simultaneous detection of LOH and UPD regions 
      during the same test.
FAU - Grygalewicz, Beata
AU  - Grygalewicz B
AD  - Cancer Genetic Laboratory, Pathology and Laboratory Diagnostics Department, 
      Centre of Oncology, M. Sklodowska-Curie Memorial Institute, Warsaw, Poland ; 
      Department of Pathology and Laboratory Diagnostics, Maria Sklodowska-Curie 
      Memorial Cancer Center and Institute of Oncology, 15B Wawelska Str, 02-034, 
      Warsaw, Poland.
FAU - Woroniecka, Renata
AU  - Woroniecka R
AD  - Cancer Genetic Laboratory, Pathology and Laboratory Diagnostics Department, 
      Centre of Oncology, M. Sklodowska-Curie Memorial Institute, Warsaw, Poland.
FAU - Rygier, Jolanta
AU  - Rygier J
AD  - Cancer Genetic Laboratory, Pathology and Laboratory Diagnostics Department, 
      Centre of Oncology, M. Sklodowska-Curie Memorial Institute, Warsaw, Poland.
FAU - Borkowska, Klaudia
AU  - Borkowska K
AD  - Cancer Genetic Laboratory, Pathology and Laboratory Diagnostics Department, 
      Centre of Oncology, M. Sklodowska-Curie Memorial Institute, Warsaw, Poland.
FAU - Rzepecka, Iwona
AU  - Rzepecka I
AD  - Cancer Genetic Laboratory, Pathology and Laboratory Diagnostics Department, 
      Centre of Oncology, M. Sklodowska-Curie Memorial Institute, Warsaw, Poland.
FAU - Lukasik, Martyna
AU  - Lukasik M
AD  - Cancer Genetic Laboratory, Pathology and Laboratory Diagnostics Department, 
      Centre of Oncology, M. Sklodowska-Curie Memorial Institute, Warsaw, Poland.
FAU - Budzilowska, Agnieszka
AU  - Budzilowska A
AD  - Cancer Genetic Laboratory, Pathology and Laboratory Diagnostics Department, 
      Centre of Oncology, M. Sklodowska-Curie Memorial Institute, Warsaw, Poland.
FAU - Rymkiewicz, Grzegorz
AU  - Rymkiewicz G
AD  - Flow Cytometry Laboratory, Pathology and Laboratory Diagnostics Department, 
      Centre of Oncology, M. Sklodowska-Curie Memorial Institute, Warsaw, Poland.
FAU - Blachnio, Katarzyna
AU  - Blachnio K
AD  - Flow Cytometry Laboratory, Pathology and Laboratory Diagnostics Department, 
      Centre of Oncology, M. Sklodowska-Curie Memorial Institute, Warsaw, Poland.
FAU - Nowakowska, Beata
AU  - Nowakowska B
AD  - Department of Medical Genetics, Mother and Child Institute, Warsaw, Poland.
FAU - Bartnik, Magdalena
AU  - Bartnik M
AD  - Department of Medical Genetics, Mother and Child Institute, Warsaw, Poland.
FAU - Gos, Monika
AU  - Gos M
AD  - Department of Medical Genetics, Mother and Child Institute, Warsaw, Poland.
FAU - Pienkowska-Grela, Barbara
AU  - Pienkowska-Grela B
AD  - Cancer Genetic Laboratory, Pathology and Laboratory Diagnostics Department, 
      Centre of Oncology, M. Sklodowska-Curie Memorial Institute, Warsaw, Poland.
LA  - eng
PT  - Journal Article
DEP - 20160106
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC4702365
OTO - NOTNLM
OT  - 13q14 deletion
OT  - CGH and SNP array
OT  - CLL/SLL
OT  - UPD
EDAT- 2016/01/08 06:00
MHDA- 2016/01/08 06:01
PMCR- 2016/01/06
CRDT- 2016/01/08 06:00
PHST- 2015/10/15 00:00 [received]
PHST- 2015/12/30 00:00 [accepted]
PHST- 2016/01/08 06:00 [entrez]
PHST- 2016/01/08 06:00 [pubmed]
PHST- 2016/01/08 06:01 [medline]
PHST- 2016/01/06 00:00 [pmc-release]
AID - 212 [pii]
AID - 10.1186/s13039-015-0212-x [doi]
PST - epublish
SO  - Mol Cytogenet. 2016 Jan 6;9:1. doi: 10.1186/s13039-015-0212-x. eCollection 2016.