PMID- 26060508
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20150610
LR  - 20201001
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 8
DP  - 2015
TI  - Evaluation of multiplex ligation dependent probe amplification (MLPA) for 
      identification of acute lymphoblastic leukemia with an intrachromosomal 
      amplification of chromosome 21 (iAMP21) in a Brazilian population.
PG  - 35
LID - 10.1186/s13039-015-0147-2 [doi]
LID - 35
AB  - BACKGROUND: An intrachromosomal amplification of chromosome 21 (iAMP21) defines a 
      unique subgroup of B-cell precursor acute lymphoblastic leukemia (BCP-ALL). The 
      finding of three or more extra copies of the RUNX1 gene by fluorescence in situ 
      hybridization (FISH) is internationally used to define an iAMP21. Genomic 
      profiling of chromosome 21 has been suggested for assisting diagnostic case 
      identification. Due to limitations of comparative genomic hybridization, in terms 
      of a routine application as first line-screening tests we evaluated the multiplex 
      ligation-dependent probe amplification (MLPA) SALSA P327_A1 and P327_B1 probe 
      sets for detecting chromosome 21 copy number alterations in Brazilian childhood 
      BCP-ALL. RESULTS: In 74 out of 368 patients gain of genetic material was 
      detected. For data confirmation RUNX1 directed FISH was performed. Cells with >/=5 
      RUNX1 signals (n = 9) were considered as "true iAMP21" while <5 RUNX1 signals 
      (n = 41) were counted as evidence for additional copies of intact chromosomes 21. 
      All patients with an iAMP21 had high MLPA peak ratios (>/=1.8), while the majority 
      of patients with <5 RUNX1 presented low MLPA peak ratios (<1.8). Observed 
      differences gained statistical strength by comparing probes located within the 
      common region of amplification. Next, a principal component analysis was 
      performed in order to illustrate distribution of cases according to their MLPA 
      peak profile in two dimensions. Cases with an iAMP21 mostly clustered together, 
      however additional cases with <5 RUNX1 signals or no available FISH data located 
      in proximity. CONCLUSIONS: MLPA qualified as a high throughput technique that 
      could be employed in future studies for a critical comparison with data obtained 
      by FISH, especially in cases where metaphase nuclei are not available. Taking 
      submicroscopic aberrations into account examined by MLPA, cases exhibiting an 
      "iAMP21 like" peak ratio profile but <5 RUNX1 signals should be considered as 
      candidates for this chromosomal abnormality.
FAU - Fuka, Gerhard
AU  - Fuka G
AD  - Pediatric Hematology-Oncology Program, Research Center, Instituto Nacional de 
      Cancer (INCA), Rua Andre Cavalcanti, 37, Rio de Janeiro, RJ 20231-050 Brazil.
FAU - Farias-Vieira, Tallita M
AU  - Farias-Vieira TM
AD  - Pediatric Hematology-Oncology Program, Research Center, Instituto Nacional de 
      Cancer (INCA), Rua Andre Cavalcanti, 37, Rio de Janeiro, RJ 20231-050 Brazil.
FAU - Hummel, Leticia
AU  - Hummel L
AD  - Pediatric Hematology-Oncology Program, Research Center, Instituto Nacional de 
      Cancer (INCA), Rua Andre Cavalcanti, 37, Rio de Janeiro, RJ 20231-050 Brazil.
FAU - Blunck, Caroline B
AU  - Blunck CB
AD  - Pediatric Hematology-Oncology Program, Research Center, Instituto Nacional de 
      Cancer (INCA), Rua Andre Cavalcanti, 37, Rio de Janeiro, RJ 20231-050 Brazil.
FAU - Santoro, Julio C
AU  - Santoro JC
AD  - Pediatric Hematology-Oncology Program, Research Center, Instituto Nacional de 
      Cancer (INCA), Rua Andre Cavalcanti, 37, Rio de Janeiro, RJ 20231-050 Brazil.
FAU - Terra-Granado, Eugenia
AU  - Terra-Granado E
AD  - Pediatric Hematology-Oncology Program, Research Center, Instituto Nacional de 
      Cancer (INCA), Rua Andre Cavalcanti, 37, Rio de Janeiro, RJ 20231-050 Brazil.
FAU - Barbosa, Thayana Conceicao
AU  - Barbosa TC
AD  - Pediatric Hematology-Oncology Program, Research Center, Instituto Nacional de 
      Cancer (INCA), Rua Andre Cavalcanti, 37, Rio de Janeiro, RJ 20231-050 Brazil.
FAU - Emerenciano, Mariana
AU  - Emerenciano M
AD  - Pediatric Hematology-Oncology Program, Research Center, Instituto Nacional de 
      Cancer (INCA), Rua Andre Cavalcanti, 37, Rio de Janeiro, RJ 20231-050 Brazil.
FAU - Pombo-de-Oliveira, Maria S
AU  - Pombo-de-Oliveira MS
AD  - Pediatric Hematology-Oncology Program, Research Center, Instituto Nacional de 
      Cancer (INCA), Rua Andre Cavalcanti, 37, Rio de Janeiro, RJ 20231-050 Brazil.
LA  - eng
PT  - Journal Article
DEP - 20150610
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC4460763
OTO - NOTNLM
OT  - B-cell precursor acute lymphoblastic leukemia (BCP-ALL)
OT  - Fluorescence in situ hybridization (FISH)
OT  - Intrachromosomal amplification of chromosome 21 (iAMP21)
OT  - Multiplex ligation dependent probe amplification (MLPA)
EDAT- 2015/06/11 06:00
MHDA- 2015/06/11 06:01
PMCR- 2015/06/10
CRDT- 2015/06/11 06:00
PHST- 2015/04/22 00:00 [received]
PHST- 2015/05/20 00:00 [accepted]
PHST- 2015/06/11 06:00 [entrez]
PHST- 2015/06/11 06:00 [pubmed]
PHST- 2015/06/11 06:01 [medline]
PHST- 2015/06/10 00:00 [pmc-release]
AID - 147 [pii]
AID - 10.1186/s13039-015-0147-2 [doi]
PST - epublish
SO  - Mol Cytogenet. 2015 Jun 10;8:35. doi: 10.1186/s13039-015-0147-2. eCollection 
      2015.