PMID- 31456164
OWN - NLM
STAT- MEDLINE
DCOM- 20200210
LR  - 20231213
IS  - 2190-3883 (Electronic)
IS  - 1234-1983 (Print)
IS  - 1234-1983 (Linking)
VI  - 60
IP  - 3-4
DP  - 2019 Nov
TI  - MLPA as a complementary tool for diagnosis of chromosome 21 aberrations in 
      childhood BCP-ALL.
PG  - 347-355
LID - 10.1007/s13353-019-00509-8 [doi]
AB  - Chromosome 21 abnormalities are the most frequent genetic findings in childhood B 
      cell precursor acute lymphoblastic leukemia (BCP-ALL) cases. Majority of patients 
      are effectively diagnosed with fluorescence in situ hybridization (FISH) and 
      karyotyping; however, some cases may require additional tools to be used. Bone 
      marrow samples of 373 childhood BCP-ALL patients were tested for chromosome 21 
      copy number variations (CNVs) with Multiplex Ligation-dependent Probe 
      Amplification (MLPA) P327 array. Results from MLPA and cytogenetics were compared 
      between groups according to the type of abnormality found on chromosome 21. Out 
      the group of 235 patients, chromosome 21 multiplication was found by FISH assay 
      in 56 cases (23.81%), ETV6-RUNX1 fusion in 34 (14.47%) and iAMP21 in 3 (1.28%) 
      children, remaining 142 (60.43%) patients had no known chromosome 21 aberration. 
      Median peak ratios of all tested probes in MLPA in aforementioned groups were 
      1.47 (IQR 1.28-1.77) vs. 1.00 (IQR 1.00-1.09) vs. 2.79 (IQR 1.97-2.83) vs. 1.00 
      (1.00-1.11), respectively. Aforementioned peak ratio of ETV6-RUNX1 fusion group 
      was similar with patients of no known chromosome 21 aberration (p = 0.71). 
      Interestingly, both groups differed from patients with chromosome 21 
      multiplication (p < 10(-5)) and with iAMP21 (p < 10(-5)). All cases of iAMP21 
      were correctly recognized by MLPA. MLPA seems to be good additional tool in the 
      diagnostic process of chromosome 21 CNVs, especially in cases with iAMP21.
FAU - Wrona, Ewa
AU  - Wrona E
AUID- ORCID: 0000-0003-3247-924X
AD  - Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, 
      Lodz, Poland. ewawrona00@gmail.com.
FAU - Braun, Marcin
AU  - Braun M
AD  - Department of Pathology, Chair of Oncology, Medical University of Lodz, Lodz, 
      Poland.
FAU - Pastorczak, Agata
AU  - Pastorczak A
AD  - Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, 
      Lodz, Poland.
FAU - Taha, Joanna
AU  - Taha J
AD  - Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, 
      Lodz, Poland.
FAU - Lejman, Monika
AU  - Lejman M
AD  - Department of Pediatric Hematology and Oncology, Medical University of Lublin, 
      Lublin, Poland.
FAU - Kowalczyk, Jerzy
AU  - Kowalczyk J
AD  - Department of Pediatric Hematology and Oncology, Medical University of Lublin, 
      Lublin, Poland.
FAU - Fendler, Wojciech
AU  - Fendler W
AD  - Department of Biostatistics & Translational Medicine, Medical University of Lodz, 
      Lodz, Poland.
AD  - Department of Radiation Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
FAU - Mlynarski, Wojciech
AU  - Mlynarski W
AD  - Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, 
      Lodz, Poland.
LA  - eng
GR  - 2014/13/N/NZ5/03660/National Science Centre/
GR  - STRATEGMED3/304586/5/2017/National Center of Research and Development/
PT  - Journal Article
DEP - 20190827
PL  - England
TA  - J Appl Genet
JT  - Journal of applied genetics
JID - 9514582
RN  - 0 (Core Binding Factor Alpha 2 Subunit)
RN  - 0 (Proto-Oncogene Proteins c-ets)
RN  - 0 (RUNX1 protein, human)
RN  - 0 (Repressor Proteins)
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - Core Binding Factor Alpha 2 Subunit/genetics
MH  - Cytodiagnosis
MH  - DNA Copy Number Variations/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/*diagnosis/genetics/pathology
MH  - Proto-Oncogene Proteins c-ets/genetics
MH  - Repressor Proteins/genetics
MH  - Translocation, Genetic/genetics
MH  - ETS Translocation Variant 6 Protein
PMC - PMC6803575
OTO - NOTNLM
OT  - CNVs
OT  - Childhood BCP-ALL
OT  - ETV6-RUNX1 fusion
OT  - FISH assay
OT  - Intrachromosomal amplification of chromosome 21 (iAMP21)
OT  - MLPA
COIS- The authors declare that they have no conflict of interest.
EDAT- 2019/08/29 06:00
MHDA- 2020/02/11 06:00
PMCR- 2019/08/27
CRDT- 2019/08/29 06:00
PHST- 2019/04/04 00:00 [received]
PHST- 2019/07/23 00:00 [accepted]
PHST- 2019/07/10 00:00 [revised]
PHST- 2019/08/29 06:00 [pubmed]
PHST- 2020/02/11 06:00 [medline]
PHST- 2019/08/29 06:00 [entrez]
PHST- 2019/08/27 00:00 [pmc-release]
AID - 10.1007/s13353-019-00509-8 [pii]
AID - 509 [pii]
AID - 10.1007/s13353-019-00509-8 [doi]
PST - ppublish
SO  - J Appl Genet. 2019 Nov;60(3-4):347-355. doi: 10.1007/s13353-019-00509-8. Epub 
      2019 Aug 27.