PMID- 34181122
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210714
IS  - 2090-5920 (Electronic)
IS  - 1687-157X (Print)
IS  - 1687-157X (Linking)
VI  - 19
IP  - 1
DP  - 2021 Jun 28
TI  - Evaluation of MLPA as a comprehensive molecular cytogenetic tool to detect 
      cytogenetic markers of chronic lymphocytic leukemia in Egyptian patients.
PG  - 98
LID - 10.1186/s43141-021-00198-z [doi]
LID - 98
AB  - BACKGROUND: Chronic lymphocytic leukemia (CLL) is the most common form of adult 
      leukemia. This disease is genetically heterogeneous, and approximately 85% of 
      patients with CLL harbor chromosomal aberrations that are considered effective 
      prognostic biomarkers. The most frequent aberrations include deletions in 13q14, 
      followed by trisomy 12, and deletions in 11q22.3 and 17p13 (TP53). Currently, 
      fluorescence in situ hybridization (FISH) is the most widely used molecular 
      cytogenetic technique to detect these aberrations. However, FISH is laborious, 
      time-consuming, expensive, and has a low throughput. In contrast, multiplex 
      ligation-dependent probe amplification (MLPA) is a reliable, cost-effective, and 
      relatively rapid technique that can be used as a first-line screening tool and 
      complement with FISH analysis. This study aimed to evaluate the contributions of 
      MLPA as a routine standalone screening platform for recurrent chromosomal 
      aberrations in CLL in comparison to other procedures. Thirty patients with CLL 
      were screened for the most common genomic aberrations using MLPA with SALSA MLPA 
      probemix P038-B1 CLL and FISH. RESULTS: In 24 of the 30 cases (80%), the MLPA and 
      FISH results were concordant. Discordant results were attributed to a low 
      percentage of mosaicism. Moreover, the MLPA probemix contains probes that target 
      other genomic areas known to be linked to CLL in addition to those targeting 
      common recurrent CLL aberrations. CONCLUSIONS: The usage of MLPA as the first 
      screening platform followed by FISH technique for only the negative cases is the 
      most appropriate approach for CLL diagnosis and prognosis.
FAU - Eid, Ola M
AU  - Eid OM
AD  - Human Cytogenetics Department, Human Genetics and Genome Research Division, 
      National Research Centre, Bohouth Street, 12311 Dokki, Cairo, Egypt.
FAU - Abdel Kader, Rania M A
AU  - Abdel Kader RMA
AD  - Human Cytogenetics Department, Human Genetics and Genome Research Division, 
      National Research Centre, Bohouth Street, 12311 Dokki, Cairo, Egypt. 
      Rania_m_heggy@hotmail.com.
FAU - Fathalla, Lamiaa A
AU  - Fathalla LA
AD  - Clinical Pathology Department, National Cancer Institute, Cairo University, 
      Cairo, Egypt.
FAU - Abdelrahman, Amany H
AU  - Abdelrahman AH
AD  - Clinical Pathology Department, National Research Centre, Cairo, Egypt.
FAU - Rabea, Ahmed
AU  - Rabea A
AD  - Oncology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
FAU - Mahrous, Rana
AU  - Mahrous R
AD  - Human Cytogenetics Department, Human Genetics and Genome Research Division, 
      National Research Centre, Bohouth Street, 12311 Dokki, Cairo, Egypt.
FAU - Eid, Maha M
AU  - Eid MM
AD  - Human Cytogenetics Department, Human Genetics and Genome Research Division, 
      National Research Centre, Bohouth Street, 12311 Dokki, Cairo, Egypt.
LA  - eng
PT  - Journal Article
DEP - 20210628
PL  - Netherlands
TA  - J Genet Eng Biotechnol
JT  - Journal, genetic engineering & biotechnology
JID - 101317150
PMC - PMC8239093
OTO - NOTNLM
OT  - Chromosomal aberrations
OT  - Chronic lymphocytic leukemia (CLL)
OT  - Fluorescence in situ hybridization (FISH)
OT  - Multiplex ligation-dependent probe amplification (MLPA)
COIS- The authors declare that they have no competing interests.
EDAT- 2021/06/29 06:00
MHDA- 2021/06/29 06:01
PMCR- 2021/06/28
CRDT- 2021/06/28 12:30
PHST- 2021/02/10 00:00 [received]
PHST- 2021/06/14 00:00 [accepted]
PHST- 2021/06/28 12:30 [entrez]
PHST- 2021/06/29 06:00 [pubmed]
PHST- 2021/06/29 06:01 [medline]
PHST- 2021/06/28 00:00 [pmc-release]
AID - 10.1186/s43141-021-00198-z [pii]
AID - 198 [pii]
AID - 10.1186/s43141-021-00198-z [doi]
PST - epublish
SO  - J Genet Eng Biotechnol. 2021 Jun 28;19(1):98. doi: 10.1186/s43141-021-00198-z.